Prickle1 related progressive myoclonus epilepsy with ataxia

 PRICKLE1-related progressive myoclonus epilepsy with ataxia is a very rare genetic disorder which is characterized by myoclonic epilepsy and ataxia.

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	-

Signs and symptomsEdit

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]

CausesEdit

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]}

TreatmentEdit

This condition is usually managed with occupational therapy, physical therapy, and speech therapy, anti-seizure medications, and adaptive devices.^[3]

EpidemiologyEdit

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]