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Symptoms » Spasticity » Glossary
 

Glossary for Spasticity

Medical terms related to Spasticity or mentioned in this section include:

  • 3-methylglutaconic aciduria, type 1: A recessively inherited metabolic disorder characterized by methylglutaconic acid in the urine.
  • 3-methylglutaconic aciduria, type 4: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • ADANE: A potentially fatal inherited neurological disease involving brain lesions. Symptoms tend to occur during childhood after an illness involving a fever. The disease is similar to Leigh syndrome but the course is acute rather than chronic.
  • Acidic dry cell batteries inhalation poisoning: Acidic dry cell batteries contain toxic chemicals which can cause symptoms if inhaled. The smoke emitted from burning batteries can also cause poisoning symptoms if sufficient quantities are inhaled. The type and severity of symptoms varies depending on the amount of chemical involved.
  • Adrenoleukodystrophy: A rare hereditary metabolic disease that only occurs in male children and is characterized by adrenal atrophy and extensive cerebral demyelination causing progressive loss of mental functioning, aphasia, apraxia and sometimes blindness. The patient usually dies within 5 years.
  • Agyria: Abnormal condition where the body excessively absorbs silver salts and deposits it in the tissues. Symptoms include gray skin and mucous membranes.
  • Agyria-pachygyria type 1: Abnormal brain development where the brain fails to develop normally during the fetal stage.
  • Aicardi-Goutieres syndrome: A rare inherited progressive disease that affects the brain and immune system.
  • Aicardi-Goutieres syndrome 1: A rare inherited progressive disease that affects the brain and immune system. Type 1 is caused by a defect on chromosome 3p21.3-p21.2.
  • Aicardi-Goutieres syndrome 2: A rare inherited progressive disease that affects the brain and immune system. Type 2 is caused by a defect on chromosome 13q14-q21.
  • Aicardi-Goutieres syndrome 3: A rare inherited progressive disease that affects the brain and immune system. Type 3 is caused by a defect on chromosome 11q13.2.
  • Aicardi-Goutieres syndrome 4: A rare inherited progressive disease that affects the brain and immune system. Type 4 is caused by a defect on chromosome 19p13.13.
  • Aicardi-Goutieres syndrome 5: A rare inherited progressive disease that affects the brain and immune system. Type 5 is caused by a defect on chromosome 3p21.3-p21.2.
  • Akesson syndrome: A very rare syndrome characterized by excessive skin folds and furrows on the scalp, mental retardation the failure of the thyroid to develop.
  • Alexander Syndrome: Brain myelin disorder causing mental degeneration.
  • Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
  • Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
  • Altered muscle tone: Where there is an alteration in the resting muscle tone.
  • Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
  • Amyotrophic lateral sclerosis: A degenerative motor neuron disease marked by weakness and wasting of the muscles which starts at the hands and legs and spreads to the rest of the body. Death occurs in 2 to 5 years. Also called Lou Gehrig's disease or wasting palsy.
  • Amyotrophic lateral sclerosis 2, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 2 is caused by a defect on chromosome 2q33.
  • Amyotrophic lateral sclerosis 3: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 3 is caused by a defect on chromosome 18q21.
  • Amyotrophic lateral sclerosis 4, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 4 is caused by a defect on chromosome 9q34.
  • Amyotrophic lateral sclerosis 5: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 5 is caused by a defect on chromosome 15q15.1-q21.1.
  • Amyotrophic lateral sclerosis 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Amyotrophic lateral sclerosis 7: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 7 is caused by a defect on chromosome 20p13.
  • Amyotrophic lateral sclerosis 8: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 9 is caused by a defect on chromosome 20q13.3 and is a dominantly inherited, late-onset form.
  • Amyotrophic lateral sclerosis, 11: An inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 11 is differentiated by the origin of the genetic defect involved (6q21).
  • Amyotrophic lateral sclerosis, type 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Angiokeratoma -- mental retardation -- coarse face: A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
  • Arginase deficiency: A very rare urea cycle disorder caused by a deficiency of the enzyme (arginase) needed to convert ammonia to the urea which can then be removed in the urine. The condition leads to excess build-up of ammonia in the body which is toxic to the nervous system.
  • Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
  • Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Ataxia spastic congenital miosis: A rare, dominantly inherited disorder characterized mainly by ataxia, spasticity and small pupils that respond poorly to light.
  • Ataxia, Hereditary, Autosomal Dominant: A group of rare, dominantly inherited neuromuscular disorder involving degeneration of the brain and spinal cord. The range, progression and severity of symptoms can vary quite considerably depending on the genetic defect involved.
  • Ataxia, spastic, 3, autosomal recessive: A recessively inherited disorder characterized mainly by spasticity and ataxia.
  • Bahemuka Brown syndrome: A very rare syndrome characterized by spastic paraplegia and skin pigmentation irregularities.
  • Basal Ganglia Disease, Adult-Onset: A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
  • Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Behavioral symptoms: Symptoms of personal behavior.
  • Bonneman-Meinecke-Reich syndrome: A very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the part of the eye called the retina.
  • Bonnemann-Meinecke-Reich syndrome: A rare disorder characterized mainly by growth problems, vision problems and brain disease.
  • Brain -- bone -- fat: A rare inherited disease characterized by bone cysts and progressive presenile dementia.
  • Brain symptoms: Symptoms affecting the brain
  • Bruyn-Scheltens syndrome: A rare syndrome characterized by limb weakness and muscle wasting in the hands and feet.
  • CACH syndrome: A rare syndrome characterized mainly by childhood ataxia and reduced myelination of the cerebral nerves. Motor and mental development in the first few years of life is normal with progressive neurodegeneration occurring between 2 and 5 years of age. Fever and trauma to the head can speed up disease progression.
  • CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
  • Canavan disease: Rare genetic degenerative brain disease in infants.
  • Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A rare inherited condition characterized primarily by progressive degeneration of the brain white matter and disease of the brain blood vessels as well as additional symptoms not involving the brain e.g. thin skin, alopecia and spinal disc disease.
  • Cerebral Palsy: Any brain disorder causing movement disability
  • Cerebral Palsy, Spastic Quadriplegic, 1: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 1 refers to a developmental brain abnormality linked to the GAD1 gene on chromosome 2q31.
  • Cerebral Palsy, Spastic Quadriplegic, 2: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 2 refers to a developmental brain abnormality linked to the ANKRD15 gene on chromosome 9p24.3.
  • Cerebral Palsy, Spastic Quadriplegic, 3: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 3 refers to a developmental brain abnormality linked to the AP4M1 gene on chromosome 7q22.1.
  • Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
  • Cerebrotendinous Xanthomatosus: A rare syndrome where a genetic mutation results in a metabolic disorders caused by a deficiency of sterol 27-hydroxylase deficiency. The condition causes progressive neurological dysfunction, cataracts and premature atherosclerosis. Deposits of cholesterol and cholestanol can be found in any part of the body including the brain. The rate of progression and severity of symptoms varying amongst patients. The degree of neurological involvement is also variable.
  • Cerebrovascular accident: Brain-related symptoms of bleeding or blockage.
  • Ceroid lipofuscinosis, neuronal 2, late infantile type: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (protease tri-peptidyl-peptidase) needed to process it.
  • Ceroid lipofuscinosis, neuronal 4: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase 1) needed to process it.
  • Chemical poisoning -- Acidic dry cell batteries: Acidic dry cell batteries contain toxic chemicals and eating the batteries can cause various symptoms if the chemical is released from the battery. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chondrodysplasia Punctata, Rhizomelic type: A rare genetic disorder characterized by slow growth, mental deficiency, characteristic facial features and skeletal deformities particularly of the limbs, spine and pelvis.
  • Chromosome 1, monosomy 1q25 q32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as digital defects, facial dysmorphism, retarded growth, mental retardation and spasticity.
  • Chromosome 11q partial deletion: A rare chromosomal disorder where a portion of chromosome 11 is missing and is characterized by trigonencephaly, heart defects and a large, carp-shaped mouth.
  • Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
  • Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 7, monosomy 7q3: A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities.
  • Chylomicron retention disease with Marinesco-Sjogren syndrome: A rare condition characterized by abnormal lipid metabolism, vitamin E deficiency, incoordination and short stature.
  • Coenzyme Q 10 (CoQ10), deficiency: A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable.
  • Coffin syndrome 1: A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development.
  • Cognitive impairment: General loss of mental or cognitive ability
  • Congenital Gigantism with Skeletal Dysplasia: A rare syndrome characterized mainly by the association of a large size at birth with various skeletal anomalies.
  • Corneal cerebellar syndrome: A very rare syndrome involving eye problems and progressive motor control problems such as ataxia and weakness on one side of the body.
  • Corpus callosum dysgenesis X-linked recessive: Partial or complete lack of development of the structure that divides two sides of the brain (corpus callosum). As the condition is X-linked, it only occurs in males.
  • Cree leukoencephalopathy: A rare form of brain demyelination which usually starts between 3 and 9 months of age and death occurs by 21 months.
  • Creutzfeldt-Jakob Disease: A very rare degenerative brain disease that can be inherited, transmitted (eg in surgical transplants using infected tissue) or as a result of genetic mutations. The condition is fatal.
  • Cutis verticis gyrata mental deficiency: A rare inherited disorder characterized by mental retardation, seizures and eye and movement problems.
  • Cystinuria -- lysinuria: A rare metabolic disorder characterized by the excessive excretion of certain amino acids (lysine and cystine) in the urine. Neurological symptoms are common.
  • Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures: A rare X-linked syndrome characterized mainly by mental retardation and seizures.
  • De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well neurologic involvement.
  • Degenerative motor system disease: Any of a number of condition characterized by destruction of nerves that carry signals to muscles (motor neurons) and results in various muscle problems. The nerve destruction is often progressive leading to increasingly severe muscle problems.
  • Del (3) (pter-25.3): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations vary considerably from patient to patient.
  • Dementia, familial British: A rare, early-onset inherited form of dementia caused by deposits of amyoid substances (amyloid) and degenerative nerve changes in the brain.
  • Dihydropyrimidine dehydrogenase deficiency: A metabolic error where a deficiency of an enzyme called dihydropyrimidine dehydrogenase prevents the normal metabolism of certain proteins. High levels of certain proteins are excreted in the urine. The enzyme is also needed the breakdown a chemotherapy drug called 5-flurouracil and its absence can result in a severe toxicity reaction.
  • Dystonia-Parkinsonism, Adult-Onset: A rare condition characterized by the association of parkinsonism and dystonia due to a neurodegenerative disorder which progresses quickly.
  • Encephalitis: Infection of the brain (as a symptom)
  • Encephalo cranio cutaneous lipomatosis: A rare genetic disorder characterized by craniofacial lipomas, cerebral atrophy and patches of alopecia.
  • Encephalocele anterior: Protrusion of a portion of the brain tissue through a skull defect in the anterior portion of the skull. The severity of symptoms depends on the exact location and size of the deformity.
  • Encephalocele frontal: Protrusion of a portion of the frontal brain tissue through a skull defect. The severity of symptoms depends on the exact location and size of the deformity.
  • Encephalopathy -- intracranial calcification -- growth hormone deficiency -- microcephaly -- retinal degeneration: A rare condition characterized mainly by brain disease, poor growth due to a deficiency of growth hormone, a small head and vision impairment.
  • Encephalopathy due to sulphite oxidase deficiency: An inborn error of metabolism where an enzyme (sulphite oxidase) deficiency results in encephalopathy. Symptoms usually start at birth.
  • Epileptic encephalopathy, early infantile, 1: A genetic form of epilepsy which is severe and starts during infancy. This form of the condition is caused by a defect on the ARX gene.
  • Epileptic encephalopathy, early infantile, 3: A genetic form of epilepsy which is severe and starts during infancy. This form of the condition is caused by a defect on the SLC25A22 gene on chromosome 11p15.5.
  • Excessive muscle tone: also called hypertonia is the increase in the contractility of the muscle with decreased stretching
  • Face symptoms: Symptoms affecting the face
  • Fahr's Syndrome: A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function.
  • Fischer Syndrome: A rare condition characterized by unusual facial appearance, thickened skin on palms and soles, physical and mental delay and various other anomalies.
  • Franek-Bocker-Kahlen syndrome: A rare syndrome characterized mainly by a small head, brain defect, spasticity and high sodium level.
  • Fucosidosis: A rare progressive biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues.
  • Gangliosidosis GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
  • Gangliosidosis, generalized GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
  • Gaucher disease type 2: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 2 is acute neurological form apparent in infancy.
  • Glucose transport defect, blood-brain barrier: A rare metabolic disorder involving a deficiency of a molecule needed to transport glucose (GLUT1). The glucose is unable to be transported from the blood and into the brain and cerebrospinal fluid. Sugar transport to the brain is essential for normal development. The blood sugar level remains normal. Fasting exacerbates symptoms which can very in severity depending on the degree of deficiency.
  • Glut-1 Deficiency Syndrome: A condition which is characterized by a deficiency of the GLUT-1 transported of cells
  • Goossens-Devriendt syndrome: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
  • Graeck-Imerslund disease:
  • Grasbeck-Imerslund Disease: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
  • Griscelli syndrome type II: A rare genetic condition characterized by a partial lack of pigmentation in the eye, skin and hair, clumps of pigmentation in hair shafts, immunodeficiency and neurological symptoms.
  • Grix-Blankenship-Peterson syndrome: A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities.
  • Gustavson syndrome: A very rare condition characterized by features such as mental retardation, spasticity, seizures and eye and ear problems.
  • Hallervorden-Spatz Syndrome: A rare neurodegenerative disease occurring in children and involving iron accumulation in the brain. It is characterized by dementia, rigidity and athetosis.
  • Hallervorden-Spatz disease: Nerve disorder causing movement problems.
  • Head injury: Any injury that occurs to the head
  • Head symptoms: Symptoms affecting the head or brain
  • Head trauma: injury to the haed
  • Herpes, Neonatal: Neonatal herpes is the infection of a newborn with the herpes virus within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions.
  • Herpes, Neonatal -- Central Nervous System Infection: Central nervous system herpes infection in neonates is a herpes infection of the central nervous system (brain, spinal cord) that develops in infants within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions. Central nervous system infection will occur in nearly three quarters of infants with a herpes infection.
  • Holoprosencephaly deletion 2p: A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies.
  • Homocarnosinosis: A very rare metabolic disorder where a deficiency of homocarnosinase causes a harmful buildup of homcarnosine. Symptoms include mental retardation, retinal pigmentation and spastic diplegia.
  • Howard-Young syndrome: A very rare syndrome characterized mainly by a small head, facial cleft and an extra big toe.
  • Hyperexplexia: A rare condition where the startle reflex is exaggerated. Triggers include sudden noise, movement or touch.
  • Hyperglycinemia: Increased blood levels of glycine. There are two types of hyperglycinemia (ketotic and nonketotic) with different symptoms.
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: A very rare inherited metabolic disorder where ammonia builds up in the body due to a defect in the transport of ornithine which prevents ammonia being converted to urea and being excreted through the urine. The severity of the condition is variable.
  • Hypomyelination -- hypogonadotropic hypogonadism -- hypodontia: A rare syndrome characterized by delayed puberty, missing teeth and reduced myelination which causes progressive ataxia.
  • IBIDS syndrome: A rare inherited skin disorder characterized by red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as PIBIDS syndrome but doesn't involve photosensitivity.
  • Ichthyosis mental retardation asymptomatic spasticity: A rare syndrome characterized mainly by mental retardation, spasticity and dry scaly skin.
  • Inborn errors of thyroid hormone synthesis related to hypothyroidism: Congenital hypothyroidism is inadequate thyroid hormone production in newborn infants. This can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency.
  • Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
  • Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
  • Injury: Any damage inflicted in the body
  • Isaacs syndrome: A rare disorder where muscles suffer from stiffness and cramping, particularly limb muscles.
  • Johnston Aarons Schelley syndrome: A very rare lethal syndrome characterized mainly by contractures and thickened skin.
  • Kernicterus: Kernicterus refers to neurological damage (brain damage) resulting from the passageof bilirubin through the immature blood brain barrier in infants. It can occur in jaundiced infants but not all jaundiced infants will develop kernicterus.
  • Koone-Rizzo-Elias syndrome: A rare congenital disorder characterized by mental retardation, spasticity and dry, scaly skin.
  • Krabbe leukodystrophy: A rare inherited biochemical disorder involving the deficiency of an enzyme called galactocerebrosidase. It is a leukodystrophy which refers to a group of genetic disorders that affect the growth of the protective coating around the brain nerves.
  • Krabbé Disease: Brain myelin disorder with various symptoms.
  • Kuf Disease:
  • Laurence-Moon Syndrome: A rare inherited disorder characterized by vision loss, impaired hormone production, mental retardation and spastic paraplegia.
  • Lesch-Nyhan syndrome: Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT.
  • Leukoencephalopathy -- palmoplantar keratoderma: A very rare inherited disorder characterized mainly by skin problems involving the palms and soles during childhood and neurological problems such as cognitive impairment during adulthood.
  • Leukomalacia: Softening or destruction of the white matter of the brain. Brain tissue that surrounds fluid-filled parts of the brain (ventricles) is destroyed. It tends to occur mainly in premature or newborn babies who have been deprived of oxygen or have poor blood flow to parts of the brain. Intrauterine infections and premature membrane rupture tend to predispose infants to this condition. This type of brain destruction can cause cerebral palsy. Severity of symptoms varies according to the degree of injury to the brain.
  • Lindstrom syndrome: A rare disorder characterized by mental retardation, facial anomalies, short stature and seizures.
  • Lissencephaly -- immunodeficiency: A very rare syndrome characterized mainly by abnormal brain development and a poor immune system.
  • Lissencephaly type 1, due to LIS 1 anomalies: A rare brain malformation where the surface of the brain is smoother than normal. Type 1 is caused by a defect on the LIS1 gene on chromosome 17p13.3. The severity of the symptoms are variable depending on the severity of the brain abnormality. Miller-Dieker syndrome is a subtype of this condition.
  • Lubs X-linked mental retardation syndrome: A severe inherited form of X-linked mental retardation.
  • Lupine poisoning: A flowering herb which produced long clusters of flowers in various colors. It also produces flat, seed-filled pods. The seeds contain toxic chemicals (alkaloids such as lupinine, anagyrine, sparteine) which can cause poisoning if eaten in large quantities. Different species have different amounts of the toxin and some species are not toxic at all.
  • MGA 4: MGA (methylglutaconic aciduria) is a rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • MacDermot-Winter syndrome: A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella).
  • Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.
  • Malformations in neuronal migration: A rare disorder where the brain fails to develop normally - usually the cerebral cortex is involved. Various parts of the brain can be affected to various degrees depending on what stage of development the defect occurs. Mental retardation is one of the most common symptoms associated with brain malformations.
  • Marinesco-Sjogren syndrome: A group of recessively inherited disorder characterized mainly by incoordination due to a brain anomaly.
  • Massa-Casaer-Ceulemans syndrome: A very rare syndrome characterized mainly by abnormal brain development (lissencephaly - smooth brain) and multiple joint contractures at birth.
  • Medulloblastoma: A type of brain tumor.
  • Megalencephalic leukoencephalopathy with subcortical cysts: A very rare syndrome characterized mainly by a progressive brain destruction that causes mental retardation and incoordination that starts early in life.
  • Megaloblastic Anemia 1: A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megaloblasts).
  • Megaloblastic anemia: Megaloblastic anemia, also called pernicious anemia, is a condition in which there is a low number of red blood cells most often caused by a lack of vitamin B12.
  • Meningoencephalitis: A condition which is characterized by inflammation of the brain and meninges
  • Mental retardation -- spasticity -- ectrodactyly: A very rare syndrome characterized mainly by mental retardation, spasticity and a cleft hand. In the reported case, the parents came from the same bloodline.
  • Mental retardation athetosis microphthalmia: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Mental retardation progressive spasticity: A condition characterized by mental retardation and progressive spasticity.
  • Mental retardation progressive spasticity, X-linked: A very rare syndrome characterized mainly by mental retardation and progressive spasticity and seizures. The disorder is X-linked and hence only affects males.
  • Mental retardation, X-linked -- Dandy Walker malformation -- Basal ganglia disease -- Seizures:
  • Mental retardation, X-linked -- hypotonia -- recurrent Infections: A severe inherited form of X-linked mental retardation.
  • Mercury -- Teratogenic Agent: There is strong evidence to indicate that exposure to Mercury during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
  • Methylmalonic aciduria -- microcephaly -- cataract: A very rare syndrome characterized mainly by excess methylmalonic acid in the urine, small head and cataracts.
  • Methylmercury -- Teratogenic Agent: There is evidence to indicate that exposure to Methyl Mercury during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Microcephaly -- mental retardation -- spasticity -- epilepsy: A very rare disorder characterized by an abnormally small head, mental retardation, spasticity and epilepsy.
  • Microcephaly brain defect spasticity hypernatremia: A rare syndrome characterized mainly by a small head, brain defect, spasticity and high sodium level.
  • Microlissencephaly -- micromelia: A rare syndrome characterized mainly by short arms, a brain defect called microlissencephaly, small head and early death.
  • Microphthalmia -- brain atrophy: A rare syndrome characterized by small eyes and degeneration of brain tissue which causes various abnormalities such as mental retardation. Usually the infant is relatively normal for a number of months after birth followed by rapid loss of previous acquired skills due to degeneration of the white matter of the brain.
  • Microphthalmia -- mental deficiency: A very rare syndrome characterized mainly by small eyes and mental deficiency.
  • Microphthalmia and mental deficiency: A very rare syndrome characterized mainly by small eyes and mental deficiency.
  • Microphthalmia syndromic, type 10: A rare inherited syndrome characterized mainly by small eyes and wasting of brain tissue.
  • Mild citrullinemia: Citrullinemia is an inherited urea cycle disorder which causes toxic substances including ammonia to build up in the blood. There are two main subtypes of Citrullinemia (I and II) which are caused by different genetic abnormalities and result in different symptoms. Milder forms may present in childhood and rare late-onset forms (type II) may not cause symptoms until adulthood.
  • Miller-Dieker syndrome: A rare genetic disorder characterized by a smooth brain surface. The condition occurs because of deletion of genetic material from the short arm of chromosome 17 ath a particular location (17p13.3).
  • Mixed Cerebral Palsy: Cerebral palsy is movement disorder originating from some sort of damage to the brain. There are a few different types of cerebral palsy (e.g. spastic, athetoid, ataxic) and a combination of two or more types is known as mixed cerebral palsy. The symptoms of mixed cerebral palsy usually involves spasticity and athetoid movements but other variations such as ataxia can occur.
  • Motor and cognitive disorder due to sepiapterin reductase deficiency: A rare condition characterized by an enzyme deficiency (sepiapterin reductase) which results in motor and cognitive problems.
  • Motor neuron diseases: Any of various disorders of the "motor neurons", nerves that control movement.
  • Movement symptoms: Changes to movement or motor abilities
  • Mucopolysaccharidosis type 2 Hunter syndrome- severe form: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down.
  • Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
  • Muscle stiffness: A difficulty in stretching a muscle
  • Muscle symptoms: Symptoms affecting the muscles of the body
  • Muscle weakness: Weakness of the muscles or loss of tone
  • Musculoskeletal symptoms: Symptoms affecting muscles or bones of the skeleton.
  • N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
  • N-acetyl-alpha-D-galactosaminidase: A very rare enzyme deficiency (N-acetyl-alpha-D-galactosaminidase) which can occur in three forms: type I (infantile-onset neuroaxonal dystrophy), type II or Kanzaki disease (adult-onset) and type III (mild or moderate form).
  • Nephronophthisis familial, adult -- spastic quadriparesis: A very rare syndrome characterized mainly by progressive kidney destruction and spasticity and weakness of arms and legs.
  • Nerve sheath neoplasm: Tumors that develop from the protective sheath surrounding nerves. There are two types of nerve sheath tumors: schwannomas and neurofibromas. They most often occur around the spinal cord. Symptoms are determined by the size and exact location of the tumor.
  • Nerve symptoms: Symptoms affecting the nerves
  • Neuroaxonal dystrophy -- renal tubular acidosis: A very rare syndrome characterized mainly by muscle and kidney abnormalities.
  • Neurodegeneration With Brain Iron Accumulation 2: A rare, inherited, progressive neurological movement disorder where accumulation of iron in the brain causes degeneration of the nervous system. Type 2 is linked to a defect in the PLA2G6 gene on chromosome 22q13.1.
  • Neurodegenerative syndrome, X-linked, Hamel type: A very rare neurodegenerative disorder characterized mainly by mental retardation, blindness, convulsions, spasticity and early death. The disorder is X-linked and thus only males suffer the full extent of the symptoms whereas female carriers may be asymptomatic or have only mild symptoms.
  • Neuroferritinopathy: A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
  • Neuroferritinopathy (adult-onset basal ganglia disease): A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
  • Neurological symptoms: Any symptoms that are caused by neurological conditions
  • Neuromyelitis Optica: A demyelinating disorder associated with transverse myelopathy and optic neuritis
  • Neuronal intranuclear inclusion disease: A very rare syndrome characterized mainly by muscle and nerve degeneration.
  • Neuropathy sensory spastic paraplegia: A very rare syndrome characterized mainly by sensory nerve degeneration and spastic paraplegia. The extremities of the hands and feet have reduced pain sensation and disfiguring ulcers tend to develop.
  • Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body.
  • Niemann-Pick disease, type C1: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type C is a juvenile or subacute form of the condition which usually starts during childhood and survival into adulthood is possible.
  • Niemann-Pick disease, type D: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. Type D is no longer a relevant term as research has shown that it has the same genetic mutation as Type C and is therefore the same condition.
  • Non-ketotic hyperglycinemia: A rare disorder of amino acid metabolism where glycine and proline are unable to be metabolized properly due to defects in the glycine cleavage system.
  • Nyssen-Van Bogaert-Meyer syndrome: A very rare genetic disorder characterized by progressive degeneration of the central nervous system.
  • Oculopalatocerebral syndrome: A rare inherited syndrome characterized mainly by short stature, small head, mental retardation, cleft palate and eye problems.
  • Orofaciodigital syndrome, type 3: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger, teeth and eye abnormalities.
  • Ossification of the posterior longitudinal ligament of the spine: Abnormal calcification of a spinal ligament. The progressive calcification can starts within months of birth and affects the ability to move arms and legs. The severity of the condition is highly variable with most patients noticing symptoms in the sixth decade.
  • Ovarioleukodystrophy: A rare syndrome characterized by ovarian failure and degeneration of the brain white matter which causes mental and motor problems.
  • PIBIDS syndrome: A rare inherited skin disorder characterized by photosensitivity (P), red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as IBIDS syndrome but involves photosensitivity.
  • Parkinson disease 9: A genetic form of Parkinson disease (a progressive degeneration of the central nervous system) that progresses rapidly once it starts. Dementia, spasticity and eye movement problems are also characteristic of this form of Parkinson disease.
  • Parkinson disease 9 (PARK9): Type 9 Parkinson disease is linked to a mutation in the ATP13A2 gene on chromosome 1p36. This condition progresses rapidly and usually starts during the second decade of life. Dementia, eye movement problems and wasting of the brain tissue occur in addition to the typical symptoms of Parkinson's disease. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinsonism, early onset with mental retardation: An early onset form of Parkinson's disease as well as mental retardation.
  • Parkinsonism, early-onset -- mental retardation: An early onset form of Parkinson's disease as well as mental retardation.
  • Pelizaeus-Merzbacher Disease: Rare brain myelin disorder.
  • Pelizaeus-Merzbacher brain sclerosis: A degenerative brain disease involving deterioration of the brain white matter which affects motor and mental functioning.
  • Pelizaeus-Merzbacher disease, adult onset: A degenerative brain disease involving deterioration of the brain white matter which affects motor and mental functioning. The adult onset form starts later in life.
  • Periodic hyperlysinemia: A rare genetic disorder where the body lacks enzymes to metabolize lysine which then causes a harmful builds up of lysine and ammonia in the body.
  • Pernicious anemia: A megaloblastic anaemia due to malabsorption of the vitamin B12
  • Personality symptoms: Symptoms or changes to the personality.
  • Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
  • Pilo dento ungular dysplasia -- microcephaly: A very rare syndrome characterized mainly by hair, tooth and nail abnormalities as well as a small head.
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract: A very rare, recessively inherited condition characterized by the association of vision, hearing and neurological problems. The condition generally starts during the second decade of life and progresses slowly.
  • Pontocerebellar hypoplasia with infantile spinal muscular atrophy: A rare, recessively inherited disorder characterized by an abnormally small brain and brainstem which manifests as a small head and mental retardation. The disorder is lethal with death usually occurring within the first year. The brain progressively degenerates.
  • Powell-Venencie-Gordon syndrome: A very rare syndrome characterized mainly by thickened skin on the palms and soles as well as spastic paralysis.
  • Premature chromosome condensation with microcephaly and mental retardation: A genetic disorder characterized mainly by a small head and mental retardation.
  • Primary Lateral Sclerosis: A neurological disorder involving the upper motor nerves and causing progressive muscle weakness in the extremities and facial area. This condition involves mutations in the same gene and overlapping symptoms with juvenile primary lateral sclerosis but the difference is that primary lateral sclerosis only involves degeneration of the upper motor neurons whereas infantile-onset spastic paralysis is more severe and involves degeneration of upper and lower motor neurons.
  • Primary lateral sclerosis, adult: A rare adult-onset genetic disorder characterized by increasing weakness and stiffness of the limb muscles due to damage to nerve cells that control motor movement.
  • Progressive Rubella Panencephalitis: A very rare complication of rubella infection where neurological symptoms develop following a congenital rubella infection and very rarely with childhood rubella. It is believed that the condition is the result of persistent rubella virus infection.
  • Proud-Levine-Carpenter syndrome: A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities.
  • Pseudo-torch syndrome: A rare genetic syndrome characterized by a small head, eye disease and brain abnormalities. The symptoms are often very similar to another disorder caused by certain infections during pregnancy.
  • Purine nucleoside phosphorylase (PNP) deficiency: A condition which is characterized by a deficiency of purine nucleoside phosphorylate
  • Pyruvate dehydrogenase phosphatase deficiency: A genetic disease involving an enzyme deficiency which causes exercise intolerance and mild developmental delay. Symptoms are variable.
  • Renier-Gabreels-Jasper syndrome: A very rare inherited syndrome characterized by a small head, severe mental retardation, spasticity, deafness and epilepsy.
  • Retinis pigmentosa -- deafness -- hypogenitalism: A very rare syndrome characterized mainly by progressive retinal damage, deafness and genital anomalies.
  • Rett-like syndrome: A very rare syndrome characterized mainly by neurological problems such as mental retardation and seizures as well as various physical anomalies.
  • Rhizomelic chondrodysplasia punctata, type 1: A rare genetic disorder involving abnormal development of bones which causes abnormal calcification of bones near the joints. The genetic defect is located on chromosome 6q22-q24.
  • Rhizomelic chondrodysplasia punctata, type 3: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (alkyldihydroxyacetonephosphate synthase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 2q31.
  • Richards-Rundle syndrome: A very rare syndrome characterized mainly by mental retardation, ataxia, deafness and ketoaciduria.
  • Rubella panencephalitis: A very rare complication of rubella infection where neurological symptoms develop following a congenital rubella infection and very rarely with childhood rubella. It is believed that the condition is the result of persistent rubella virus infection.
  • Schimke, X-linked, mental retardation syndrome: A very rare syndrome characterized by mental retardation, abnormal involuntary movements and retarded growth.
  • Schindler disease: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. The most severe form usually results in death within a few years of birth whereas the mild form doesn't cause symptoms until after the age of 30. The type and severity of symptoms varies depending on which form of the disease is involved.
  • Schindler disease, type 1: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. Type 1 is an infantile form and is the most severe form. It usually results in death within a few years of birth.
  • Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
  • Segawa Syndrome: A disorder characterized by dystonia of the lower limbs which becomes worse towards nighttime. The condition usually starts during childhood.
  • Selective Vitamin B12 malabsorption with Proteinuria: A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megaloblasts).
  • Severe head injury: injury to the head due to external forces
  • Sialuria, Finnish type: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. This condition is an adult form of sialuria.
  • Sjogren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
  • Spasms: Involuntary muscle movements without full control.
  • Spastic Paraplegia 42, Autosomal Dominant: A rare disorder characterized mainly by muscle wasting and weakness in the legs.
  • Spastic ataxia, Charlevoix-Saguenay type: A rare disorder characterized mainly by spasticity of the legs, uncoordinated leg movements and eye anomalies.
  • Spastic gait: A gait in which it appears the legs are held together and the toes and feet dragged one moving
  • Spastic paraparesis: A rare disorder where parts of the body develop spasticity and weakness. Usually the limbs are involved. The disorder is usually an inherited condition.
  • Spastic paraplegia 10, autosomal dominant: An extremely mild form of lower leg spasticity and weakness. Most sufferers are have symptoms so mild they go unnoticed.
  • Spastic paraplegia 14, autosomal recessive: A rare genetic disorder characterized mainly by lower leg spasticity and mild mental retardation.
  • Spastic paraplegia 17: A rare syndrome characterized by progressive weakness and wasting mainly in the hands and feet.
  • Spastic paraplegia 2, X-linked: A very rare genetic disorder characterized by lower leg spasticity and weakness. It has an early onset, progresses slowly and eventually the brain becomes involved as well which produces sensory, speech and eye problems.
  • Spastic paraplegia 20, autosomal recessive: A rare disorder characterized mainly by progressive stiffness, weakness and wasting of the lower leg muscles. The thumb muscle and speech is also affected.
  • Spastic paraplegia 23: A rare disorder characterized mainly by progressive stiffness and weakness of the leg muscles, premature graying, characteristic facial appearance and a skin pigmentation anomaly. Pigmentation anomalies usually start from the age of 6 months and leg problems may be noticed around the middle of the first decade.
  • Spastic paraplegia 3, autosomal dominant: A an early onset, very slow progressing form of spastic paraplegia which involves lower leg spasticity and weakness.
  • Spastic paraplegia 31, autosomal dominant: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
  • Spastic paraplegia 4, autosomal dominant: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles. The severity of the condition is very variable as is the age of onset.
  • Spastic paraplegia 7, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
  • Spastic paresis -- glaucoma -- mental retardation: A very rare syndrome characterized by progressive stiffness and weakness of the legs, glaucoma and mental retardation.
  • Spastic quadriplegia -- retinitis pigmentosa -- mental retardation: A very rare syndrome characterized mainly by progressive stiffness and weakness of the legs and arms, eye problems and mental retardation. The spastic paraplegia is not progressive.
  • Spasticity -- mental retardation: A rare disorder characterized by the association of spasticity and mental retardation.
  • Spasticity -- mental retardation -- epilepsy, X-linked: A rare syndrome characterized by epilepsy, spasticity and mental retardation. The disorder is inherited in a X-linked manner and thus only males present with symptoms though female carriers may have some mild symptoms such as hyperreflexia.
  • Spasticity -- multiple exostoses: A very rare syndrome characterized by stiff legs and numerous bone outgrowths.
  • Spasticity in children: Spasticity in children is a condition in which a child's muscles are unusually stiff and rigid and have over-reactive deep tendon reflexes.
  • Spasticity of both legs: Spasticity of both legs refers to leg muscles that are unusually stiff and rigid and have over-reactive deep tendon reflexes.
  • Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
  • Spina bifida: A congenital condition which is characterized by the abnormal closure of the vertebral arch
  • Spinal Cord Tumor: Cancer of the spinal cord or central nervous system.
  • Spinal atrophy -- ophthalmoplegia -- pyramidal syndrome: A very rare syndrome characterized by weak eye muscles, progressive spinal cord deterioration resulting in muscle weakness and wasting
  • Spinal cord injury: spinal cord injury causes myelopathy or damage to white matter or myelinated fiber tracts that carry sensation and motor signals to and from the brain
  • Spine symptoms: Symptoms affecting the spine
  • Spinocerebellar ataxia 3: A rare genetic disorder (chromosome 14q32.1defect) characterized by . Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types. The duration of the disease is 1-20 years.
  • Spinocerebellar ataxia, Machado-Joseph type I: A rare genetic disorder (chromosome 14q32.1defect) characterized by early onset of symptoms - ataxia, bulging eyes and extrapyramidal symptoms. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
  • Spinocerebellar ataxia, Machado-Joseph type II: A rare genetic disorder (chromosome 14q32.1defect) characterized by intermediate onset of symptoms. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
  • Spinocerebellar ataxia, Machado-Joseph type III: A rare genetic disorder (chromosome 14q32.1defect) characterized by later onset of symptoms such as weak eye muscles and peripheral neuropathy. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
  • Spinocerebellar ataxia, Machado-Joseph type V: A rare genetic disorder (chromosome 14q32.1defect) characterized by spastic paraparesis. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
  • Spinocerebellar ataxia, X-linked, 2: A rare neurological disorder characterized mainly by ataxia, spasticity and early death.
  • Spinocerebellar ataxia, autosomal dominant: A group of disorder involving slow progressing incoordination and speech and eye movement problems due to degeneration of the cerebellum of the brain. The various forms of the disorder vary according to the degree and range of muscle involvement.
  • Spinocerebellar ataxia, autosomal recessive 5: A rare neurological disorder caused by a genetic defect (chromosome 15q24-q26, recessive) and resulting in ataxia, mental problems and a skin disorder. Symptoms start during infancy and more than half of the patients never gain the ability to walk.
  • Spinocerebellar degenerescence, book type: A very rare syndrome characterized by movement problems and mental retardation that originates from a brain defect.
  • Stratton-Parker syndrome: A very rare syndrome characterized by short stature, heart positioned on the wrong side of the chest (dextrocardia) and a bone development anomaly.
  • Stroke: Brain-related symptoms of bleeding or blockage.
  • Stroke symptoms: Brain-related symptoms of bleeding or blockage.
  • Sturge-Weber Syndrome: A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.
  • Subacute Sclerosing Panencephalitis: A progressive neurological disorder involving inflammation of the brain caused by a complication of the measles virus. It can occur up to 10 years after the initial measles virus and may be due to a defective immune response to the virus or a reactivation of the virus.
  • Suffocation: The death of an individual due to a lack of oxygen
  • Superficial siderosis of the central nervous system: A rare disorder where hemosiderin (free iron) is deposited in parts of the central nervous system (brain and spinal cord tissue). It is often caused by repeated periods of bleeding in the brain (subarachnoid space).
  • Symmetrical thalamic calcifications: A very rare disorder involving the calcification of a part of the brain called the thalamus which results in various abnormalities.
  • Syringomelia: A rare disorder characterized by the presence of cavities in the spinal cord which are filled with cerebrospinal fluid. The condition may occur for no apparent reason (primary) or may have a known causes (secondary) such as Chiari malformation, posttraumatic spinal canal compression, posttraumatic myelomalacia, intraspinal tumor or postinfective arachnoiditis. The severity of the condition is greatly variable with some people remaining generally asymptomatic whereas others suffer disability and require surgical intervention.
  • Syringomyelia: Spinal cord cysts
  • Syringomyelia, lumbar lesion: A slowly-progressing neurological disorder characterized by a fluid-filled cavity in the spinal cord in the region between the lower ribs and pelvis.
  • Tetany: Involuntary cramps of the muscles caused by low blood calcium levels.
  • Thalamic degeneration symmetrical infantile: A very rare brain disorder characterized by abnormal brain development, seizures, respiratory distress and movement disorders.
  • Thalamic degenerescence infantile: A rare genetic brain disorder.
  • The Methylmalonic Acidemias: A condition which is characterized by an excess of methylmalonic acid in the blood
  • Thompson-Baraitser syndrome: A very rare syndrome characterized mainly by liver fibrosis, kidney cysts and mental retardation.
  • Thrombocytopenia -- cerebellar hypoplasia -- short stature: A very rare syndrome characterized mainly by short stature, low blood platelets and abnormal brain development.
  • Tome-Brune-Fardeau syndrome: A rare syndrome involving neurological impairment which manifests as movement disorders and dementia.
  • Triose phosphate-isomerase deficiency: A very rare inherited condition involving a deficiency of triose phosphate-isomerase.
  • Triosephosphate isomerase 1: A rare inherited blood disorder involving a deficiency of red cell triosephosphate isomerase which is involved in the glycolysis (glucose metabolism) process to produce energy. The disorder is characterized by anemia, recurring infection and often progressive neurological degeneration. The severity of the disorder is variable with some patients having central nervous system involvement while others don't.
  • Tumor: Abnormal tissue growth which may be malignant or benign.
  • Upper motor neuron weakness: Muscle weakness caused by neurological problems.
  • Van Bogaert disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
  • Van Bogaert's disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
  • Van Bogaert-Scherer-Epstein Disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
  • Vanishing white matter leukodystrophy: Degeneration of the brain white matter. The condition tends to progress relatively slowly but a sudden deterioration of symptoms can occur after a head trauma or an illness involving fever. Some degree of recovery can occur after the sudden deterioration but other cases can result in coma and death. Survival is possible into the third decade.
  • Variant CJD: New human CJD subtype linked to mad cow disease (BSE).
  • Vocal cord dysfunction familial: A rare inherited disorder where the vocal cord closes while breathing in which causes breathing difficulty which can be severe in some cases. Mental retardation is also associated.
  • Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
  • Wells Jankovic syndrome: A syndrome that is characterised with spastic paraparesis and deafness
  • Woods Black Norbury syndrome: A condition that is characterised by immune deficiency in the newborn ultimately resulting in death
  • X-linked alpha thalassemia mental retardation syndrome (ATR-X): An x-linked condition that features mental retardation, dysmorphic features, and alpha thalassemia
  • X-linked hydrocephalus spectrum: A rare genetic disorder characterized by hydrocephalus, short flexed thumbs and mental deficiency.
  • X-linked mental retardation -- hypotonia: A very rare inherited disorder characterized primarily by mental retardation. Initial symptoms of muscle weakness gives way to spasticity and contractures.
  • Xanthomatosis cerebrotendinous: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
  • Xeroderma pigmentosum: A rare pigmentary disease that is caused by an enzyme deficiency
  • Xeroderma pigmentosum, type 1: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation - type 1 has the lowest level of repair and the most neurological complications.
  • Xeroderma pigmentosum, type 2: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type B is often associated with signs of Cockayne syndrome.

Conditions listing medical symptoms: Spasticity:

The following list of conditions have 'Spasticity' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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Conditions listing medical complications: Spasticity:

The following list of medical conditions have 'Spasticity' or similar listed as a medical complication in our database.

 

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