GOSR2-related progressive myoclonus ataxia
Don’t fight GOSR2-related progressive myoclonus ataxia alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with GOSR2-related progressive myoclonus ataxia and get the support you need.
Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 280620
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Connect with other users with GOSR2-related progressive myoclonus ataxia on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
