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Diseases » Myoclonic seizures » Glossary
 

Glossary for Myoclonic seizures

  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Brain conditions: Medical conditions that affect the brain
  • Carnosinase deficiency: A very rare inherited metabolic disorder characterized by severe neurological abnormalities such as mental retardation and myoclonic seizures.
  • Carnosinemia: Excessive amounts of carnisine in the blood.
  • Ceroid lipofuscinosis, neuronal 1, infantile: 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) needed to process it.
  • 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 3, Juvenile: A progressive genetic disorder where defective lipid metabolism that causes blindness, neurological deterioration, dementia leading to total incapication within years and death within 10-15 years.
  • Chromosome 5p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies.
  • Dravet syndrome: A rare, severe form of generalized infant epilepsy that starts after a fever. Initial infant development is normal but once the seizures start, psychomotor development slows and mental decline occurs. The seizures usually occur every month or two to start with.
  • Epilepsy: Brain condition causing seizures or spasms.
  • Epilepsy, Juvenile Absence, Susceptibility to, 1: A susceptibility to juvenile absence seizures linked to a particular gene - 6p12-p11.
  • Epilepsy, Juvenile Absence, Susceptibility to, 2: A susceptibility to juvenile absence seizures linked to a particular gene - 3q26.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 1: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 6p12-p11.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 2: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 15q14.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 3: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 6p21.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 4: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 5q12-q14.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 5: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 5q34-q35.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 6: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 2q22-q23.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 7: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 1p36.3.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 8: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 3q26.
  • Gangliosidosis, generalized GM1 type 2: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase 1) 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. Death can occur early in life in severe cases but milder cases can survive into late childhood.
  • Generalized Epilepsy with Febrile Seizures Plus: An inherited seizure disorder characterized by febrile seizures during early childhood and persisting seizures after early childhood which may or may not involve fever. The range and severity of symptoms is variable and may include febrile seizures, partial seizures and generalized seizures. The seizure disorder persists after the age of six which differentiates it from the similarly names seizure disorder called generalized epilepsy with febrile seizures. There are five (perhaps more) subtypes of the condition, each originating from a different genetic defect.
  • Generalized Epilepsy with Febrile Seizures Plus, type 1: Generalized epilepsy with febrile seizures plus is an inherited seizure disorder characterized by febrile seizures during early childhood and persisting seizures after early childhood which may or may not involve fever. The range and severity of symptoms is variable and may include febrile seizures, partial seizures and generalized seizures. The seizure disorder persists after the age of six which differentiates it from the similarly names seizure disorder called generalized epilepsy with febrile seizures. There are five (perhaps more) subtypes of the condition, each originating from a different genetic defect. Type 1 is caused by a defect on chromosome 19q13.
  • Generalized Epilepsy with Febrile Seizures Plus, type 2: Generalized epilepsy with febrile seizures plus is an inherited seizure disorder characterized by febrile seizures during early childhood and persisting seizures after early childhood which may or may not involve fever. The range and severity of symptoms is variable and may include febrile seizures, partial seizures and generalized seizures. The seizure disorder persists after the age of six which differentiates it from the similarly names seizure disorder called generalized epilepsy with febrile seizures. There are five (perhaps more) subtypes of the condition, each originating from a different genetic defect. Type 2 is caused by a defect on chromosome 2q24.
  • Generalized Epilepsy with Febrile Seizures Plus, type 3: Generalized epilepsy with febrile seizures plus is an inherited seizure disorder characterized by febrile seizures during early childhood and persisting seizures after early childhood which may or may not involve fever. The range and severity of symptoms is variable and may include febrile seizures, partial seizures and generalized seizures. The seizure disorder persists after the age of six which differentiates it from the similarly names seizure disorder called generalized epilepsy with febrile seizures. There are five (perhaps more) subtypes of the condition, each originating from a different genetic defect. Type 3 is caused by a defect on chromosome 15q31.1-q33.1.
  • Generalized Epilepsy with Febrile Seizures Plus, type 5: Generalized epilepsy with febrile seizures plus is an inherited seizure disorder characterized by febrile seizures during early childhood and persisting seizures after early childhood which may or may not involve fever. The range and severity of symptoms is variable and may include febrile seizures, partial seizures and generalized seizures. The seizure disorder persists after the age of six which differentiates it from the similarly names seizure disorder called generalized epilepsy with febrile seizures. There are five (perhaps more) subtypes of the condition, each originating from a different genetic defect. Type 5 is caused by a defect on the GABRD gene.
  • Generalized Epilepsy with Febrile Seizures Plus, type 6: Generalized epilepsy with febrile seizures plus is an inherited seizure disorder characterized by febrile seizures during early childhood and persisting seizures after early childhood which may or may not involve fever. The range and severity of symptoms is variable and may include febrile seizures, partial seizures and generalized seizures. The seizure disorder persists after the age of six which differentiates it from the similarly names seizure disorder called generalized epilepsy with febrile seizures. There are five (perhaps more) subtypes of the condition, each originating from a different genetic defect. Type 6 is caused by a defect on chromosome 8p23-p21.
  • Glutamate decarboxylase deficiency: A rare disorder of amino acid metabolism characterized by a deficiency of the enzyme called glutamate decarboxylase which causes seizures that will only respond to pyridoxine (vitamin B6).
  • Glycine synthase deficiency: A rare genetic disorder characterized by high blood glycine levels which is toxic to the body. The severity of the condition varies according to the degree of deficiency and age of onset. The classical neonatal form is generally quite severe, the atypical mild form which generally includes symptoms such as aggressiveness, behavioral problems and speech problems. The transient neonatal form involves high blood glycine levels at birth which then returns to normal within a couple of months - there was no neurological or developmental impairment.
  • Histidinuria, renal tubular defect: A very rare syndrome where a kidney defect causes high levels of histidine in the urine.
  • Infantile Spasms: Seizure condition in infants.
  • 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.
  • Movement disorders: Medical conditions affecting the movement systems, such as walking or tremor.
  • Muscle conditions: Any condition that affects the muscles of the body
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Myoclonus with epilepsy with ragged red fibers: A rare disorder of mitochondrial metabolism characterized by myoclonic epilepsy and ragged-red muscle fibers. Mitochondria are the part of the body cells that produce energy.
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • Precocious myoclonic encephalopathy: An early-onset form of myoclonic seizures. It is caused by brain abnormalities due to such things as brain malformations and inborn errors of metabolism.

 

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