GOSR2-related progressive myoclonus ataxia
| GOSR2-related progressive myoclonus ataxia | |
|---|---|
| Synonyms | Progressive myoclonus epilepsy, North Sea progressive myoclonus epilepsy |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Myoclonus, ataxia, seizures, cognitive decline |
| Complications | N/A |
| Onset | Childhood |
| Duration | Progressive |
| Types | N/A |
| Causes | Mutations in the GOSR2 gene |
| Risks | Genetic predisposition |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other forms of progressive myoclonus epilepsy |
| Prevention | N/A |
| Treatment | Antiepileptic drugs, physical therapy, occupational therapy |
| Medication | N/A |
| Prognosis | Variable, generally progressive |
| Frequency | Rare |
| Deaths | N/A |
Alternate names
EPM6; PME type 6; Progressive myoclonic epilepsy type 6; North Sea progressive myoclonus epilepsy; Progressive myoclonus epilepsy type 6
Definition
A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.
NIH genetic and rare disease info
GOSR2-related progressive myoclonus ataxia is a rare disease.
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Rare diseases - GOSR2-related progressive myoclonus ataxia
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Resources
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GOSR2-related progressive myoclonus ataxia
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