GOSR2-related progressive myoclonus ataxia
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| GOSR2-related progressive myoclonus ataxia | |
|---|---|
| Other names | EPM6, PME type 6, Progressive myoclonic epilepsy type 6, North Sea progressive myoclonus epilepsy, Progressive myoclonus epilepsy type 6 |
| Specialty | Medical genetics |
| Symptoms | Myoclonic epilepsy with progressive ataxia |
| Complications | Walking, consciousness, sanity |
| Usual onset | Early |
| Duration | Lifelong |
| Types | This disorder is a type of progressive myoclonic epilepsy, but it doesn't have any subtypes itself |
| Causes | Autosomal recessive genetic mutation |
| Diagnostic method | Genetic testing |
| Treatment | Physical therapy |
| Frequency | very rare, only 12 cases have been described in medical literature |
| Deaths | - |
GOSR2-related progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of progressive myoclonus ataxia which is characterized by progressive myoclonic epilepsy with an early onset which is associated with generalized tonic-clonic seizures, petit mal seizures, and drop attacks, variable degrees of scoliosis, areflexia, high levels of creatine kinase serum, and late-onset cognitive decline.
According to OMIM, only 12 cases have been described in medical literature. It is caused by autosomal recessive loss of function mutations in the (as the name implies) GOSR2 gene, in chromosome 17.