GOSR2-related progressive myoclonus ataxia

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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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Additional resources

GOSR2-related progressive myoclonus ataxia

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