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Diseases » Dystonias » Glossary
 

Glossary for Dystonias

  • 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer's Disease: Dementia-causing brain disease mostly in seniors and the elderly.
  • Aromatic amino acid decarboxylase deficiency: A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests as movement and neurological problems.
  • 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.
  • 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.
  • Basal ganglia calcification, idiopathic 1: Abnormal calcium deposits in the part of the brain called the basal ganglia. Type 1 results in psychiatric, cognitive or neurological problems associated with the calcification. The symptoms experienced are variable.
  • Basal ganglia disease, biotin-responsive: A neurological disease that affects the part of the brain called the basal ganglia. The disease responds well to biotin administration but relapses within a month if the biotin is stopped. If the condition is diagnosed late or there are recurring episodes, the patient may suffer ongoing symptoms such as paraparesis, mild mental retardation or dystonia.
  • Benign paroxysmal torticollis of infancy: A harmless condition characterized by recurring periods of head tilting resulting from dystonia (sustained muscle contractions) of the neck muscles. Other symptoms such as vomiting and irritability may also occur variably. Episodes tend to occur without any noticeable triggers and may last from hours to days. Episodes can occur as often as every two weeks or as infrequently as every couple of months.
  • Beta-ureidopropionase deficiency: A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however.
  • Birth Injury: An injury to the mother caused by childbirth
  • Brain cancer: Cancer of the brain.
  • Brain conditions: Medical conditions that affect the brain
  • Cerebrovascular accident: Occurs when the blood supply to the brain is interrupted and results in cell injury and death.
  • Chemical poisoning -- 4-Aminopyridine: 4-Aminopyridine is a pesticide used mainly to control bird pests. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chlorpromazine -- Teratogenic Agent: There is evidence to indicate that exposure to Chlorpromazine (a neuroleptic drug) 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.
  • Choreoacanthocytosis amyotrophic: A rare inherited disease involving neurological degeneration and abnormal red blood cell shape. The disorder progresses slowly and causes involuntary movements, loss of cognitive ability, behavioral changes and seizures.
  • Choreoathetosis-spasticity, episodic: A dominantly inherited movement disorder characterized by episodes of involuntary movments. Symptom episodes are often triggered by fatigue, alcohol, physical exertion and stress.
  • Convulsions: Involuntary spasms especially those affecting the full body
  • Developmental malformations -- deafness -- dystonia: A rare syndrome characterized mainly by deafness, movement disorder and malformations that occur during fetal development.
  • Dystonia 12: A very rare syndrome involving the early start of symptoms of dystonia and parkinsonism. The onset of the symptoms usually occurs suddenly over weeks or even hours and then progresses slowly.
  • Dystonia 4, Torsion, Autosomal Dominant: An inherited movement disorder where the muscles contract and contort uncontrollably due to neurological dysfunction. Usually speech is affected first.
  • Dystonia 6, torsion: A rare inherited movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. Symptoms usually start in one limb and then spread to other limbs.
  • Dystonia musculorum deformans type 1: A rare movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. The trunk, neck and limbs are usually involved first.
  • Dystonia musculorum deformans type 2: A rare recessively inherited movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. The hands and feet are usually involved first.
  • Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency: A movement disorder resulting from an enzyme deficiency (sepiapterin reductase). A deficiency of this enzyme leads to low levels of serotonin and dopamine which manifests as neurological impairment in the form of motor and cognitive problems. The severity of symptoms is variable.
  • Dystonia-Parkinsonism, Adult-Onset: A rare condition characterized by the association of parkinsonism and dystonia due to a neurodegenerative disorder which progresses quickly.
  • Encephalopathy due to GLUT1 deficiency: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • 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.
  • Foot symptoms: Symptoms affecting one or both feet
  • Glutaric Acidemia Type I: A condition which results in an inability to process the amino acids lysine, hydroxylysine and tryptophan
  • Glutaric aciduria 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Glutaricaciduria I: A rare inherited enzyme deficiency disorder where deficiency of the glutaryl-CoA dehydrogenase enzyme results in dystonia, dyskinesia and sometimes mental retardation.
  • Glutaricaciduria type 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Glutaryl-CoA dehydrogenase deficiency: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Hallervorden-Spatz disease: Nerve disorder causing movement problems.
  • Haloperidol -- Teratogenic Agent: There is evidence to indicate that exposure to Haloperidol (an antipsychotic drug) 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.
  • Hoarse: Hoarseness or loss of voice
  • Huntington's Disease: Inherited disease causing progressive mental deterioration.
  • Hydroxyacyl-coa dehydrogenase, type 2, deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Some cases simply involve developmental delay.
  • Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia: An inherited muscle wasting disorder associated with dementia and bone disease.
  • Infantile convulsions and paroxysmal choreoathetosis, familial: A very rare inherited syndrome characterized mainly by convulsions during infancy and choreoathetosis which can occur randomly or be triggered by certain stimuli such as exercise.
  • Infantile epileptic-dyskinetic encephalopathy: A genetic disorder characterized by severe epilepsy and dyskinesia that starts during infancy. This form of the condition is caused by a defect on the ARX gene.
  • Infantile parkinsonism: A rare disorder of amino acid metabolism characterized by a defect in the enzyme tyrosine hydroxylase. The enzyme is needed to convert phenylalanine to dopamine.
  • Infection: Infections as a symptom.
  • Injury: Any damage inflicted in the body
  • Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
  • Leber optic atrophy: An inherited biochemical disorder due to mitochondrial mutation.
  • Lesch-Nyhan syndrome: Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT.
  • Lipoamide dehydrogenase deficiency: A very rare enzyme deficiency (dihydrolipoamide dehydrogenase) which can cause lactic acidosis. The age of onset and symptoms are variable.
  • Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.
  • Marsden syndrome: A rare disorder characterized by loss of vision and dystonia. It is believed to be a variant of Leber's atrophy associated with dystonia.
  • Mental retardation, X-linked -- dystonia -- dysarthria: A very rare X-linked disorder characterized by the association of mental retardation with dystonia (movement disorder) and dysarthria (speech disorder).
  • Methylmalonicaciduria, vitamin B12 unresponsive, mut 0: A metabolic disorder whose severity is somewhat variable - most patients die within months of birth with survivors having neurological problems. The condition involves abnormal metabolism of vitamin B12 which doesn't respond to treatment using vitamin B12 administration. This disorder is more severe than the mut (-) form
  • Microcephaly -- pontocerebellar hypoplasia -- dyskinesia: A rare, recessively inherited disorder characterized by an abnormally small brain and brainstem which manifests as a small head and mental retardation. The brain progressively degenerates.
  • 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.
  • Movement disorders: Medical conditions affecting the movement systems, such as walking or tremor.
  • Muscle conditions: Any condition that affects the muscles of the body
  • Muscle cramps: A condition which is characterized by the uncontrolled contractions of muscles
  • Muscle spasms: Involuntary movement or contraction of muscles without full control
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Myoclonic dystonia: A very rare inherited syndrome characterized mainly by mild dystonia and myoclonic jerks that occur mainly in the arms, neck and trunk. Alcohol makes the condition worse. Psychiatric disorders are also often present.
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • 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.
  • 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.
  • Neuromuscular conditions: Conditions affecting the nerve-muscle systems.
  • 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.
  • Olivopontocerebellar atrophy I: A disorder where degeneration of certain parts of the brain and spinal cord and results in symptoms such as muscle problems, chorea and speech disturbance.
  • Pantothenate kinase-associated neurodegeneration: A rare, inherited, progressive neurological movement disorder where accumulation of iron in the brain causes degeneration of the nervous system.
  • Parkinson disease 2, autosomal recessive juvenile (PARK2): Type 2 Parkinson disease is juvenile form of the condition and is linked to a genetic mutation on chromosome 6q25.2-q27. The condition may be inherited in a recessive manner and symptoms tend to be milder following sleep. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 6, autosomal recessive early-onset (PARK6): Type 6 Parkinson disease is an early-onset form of the condition and is linked to a genetic mutation on the PINK1 gene on chromosome 1p36. The condition may be inherited in a recessive manner and symptoms tend to fluctuate during the day. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson's Disease: Degenerative brain condition characterised by tremor.
  • Poisoning: The condition produced by poison
  • Pontocerebellar Hypoplasia Type 2B: A rare inherited condition where the brainstem and part of the brain (cerebellum) is abnormally small. Type 2B differs from other types with respect to the location of the genetic defect.
  • Pontocerebellar Hypoplasia Type 2C: A rare inherited condition where the brainstem and part of the brain (cerebellum) is abnormally small. Type 2C differs from other types with respect to the location of the genetic defect.
  • Psychogenic Movement Disorders: Movement problems for which no neurological, chemical or structural cause can be determined. The condition is believed to be the result of a psychiatric problem and symptoms occur subconsciously.
  • Restless Legs Syndrome: A neurological disorder where legs develop and crawling, aching skin sensation which is relived by moving the legs.
  • Restless leg syndrome: Restless leg syndrome is a condition that is characterized by an irresistible urge to move one's body to stop uncomfortable or odd sensations. It most commonly affects the legs, but can also affect the arms or torso.
  • SCHAD deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • Sandifer syndrome: A rare disorder where torticollis (neck spasms) is associated with a hiatus hernia. All the symptoms seem to be as a result of the hiatus hernia.
  • Segawa Syndrome: A disorder characterized by dystonia of the lower limbs which becomes worse towards nighttime. The condition usually starts during childhood.
  • Segawa syndrome, autosomal dominant: A rare inherited disorder involving progressive dystonia (neurological movement disorder) which would improve in the mornings and then deteriorate towards the evening.
  • Segawa syndrome, autosomal recessive: A very rare birth disorder characterized mainly by involuntary jerky movements that start during infancy. The disorder is caused by a genetic defect resulting in a deficiency of an enzyme called tyrosine hydroxylase. The disorder is usually treatable by administering low doses of L-DOPA medication.
  • Speech difficulties: Any difficulties that one may experience in communicating
  • Spinocerebellar ataxia 12: A rare genetic disorder (chromosome 5q31-q33 defect) characterized by variable symptoms such as arm tremors, gait ataxia and dysarthria (speech disorder) with other.
  • Spinocerebellar ataxia 17: A rare genetic disorder (chromosome 6q27 defect) characterized by . Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
  • Spinocerebellar ataxia 21: A rare genetic disorder (chromosome 7p21.3-p15.1 defect) characterized by extrapyramidal features and cognitive impairment. The condition progresses slowly over decades. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
  • 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 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.
  • Stroke: Serious brain event from bleeding or blood clots.
  • Torsion dystonia 7: A rare inherited movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. Usually the onset of symptoms is focused on one part of the body, usually the neck, eyes or hands.
  • Torsion dystonia with onset in infancy: A rare inherited movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. The disorder occurs during infancy and tends to affect the legs severely and the face and arms to a lesser degree.
  • Tremor: Involuntary trembling most commonly of the hands.
  • 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.
  • Type 10 17b-hydroxysteroid dehydrogenase deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • 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.
  • Variant Creutzfeldt-Jakob disease: The bovine spongiform encephalopathy affects cattle but the variant form can infect humans. Human infection can occur by consuming infected cattle products, especially the brain and other central nervous system tissues.
  • Wilson's Disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.
  • Writing symptoms: Problems with writing ability
  • 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.
  • Ziehen-Oppenheim syndrome: A very rare genetic condition involving progressive spasming of the muscles causing the body to twist and turn.

 

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