PRICKLE1-related progressive myoclonus epilepsy with ataxia
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| PRICKLE1-related progressive myoclonus epilepsy with ataxia | |
|---|---|
| Other names | Progressive myoclonus epilepsy-ataxia syndrome |
| Specialty | Medical genetics |
| Symptoms | Myoclonus, epilepsy, and ataxia |
| Usual onset | Mid/late childhood |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Medium |
| Frequency | very rare, only 17 cases from families across Western Asia and the Middle East have been described in medical literature |
| Deaths | - |
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a very rare genetic disorder which is characterized by myoclonic epilepsy and ataxia.
Ataxia is usually one of the first symptoms of this disorder, followed by early/mid childhood-onset myoclonus, which can lead to dysarthria, and mid/late childhood-onset epilepsy. It is more common for the epileptic grand-mal seizures to begin at night. This is one of few genetic disorders which do not affect the intellect of the person afflicted by it.[1]
Causes
As its name suggests, this disorder is caused by mutations (usually a point one) of the PRICKLE1 gene, in chromosome 12. This gene produces a protein called "prickle homolog 1" which is thought (but not certainly known) to be essential in brain development.[2] These mutations are inherited either by autosomal recessive or autosomal dominant inheritance.[3]