| 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]
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.[ citation needed ]
This condition is usually managed with occupational therapy, physical therapy, and speech therapy, anti-seizure medications, and adaptive devices. [3]
According to OMIM, only 17 cases from families in the Middle East and Western Asia [4] (more specifically, Saudi Arabia and Jordan). [5] [6] [7]