SNP Shot: Genomic Insights

Myoclonic Epilepsy Myopathy Sensory Ataxia (MEMSA) is a type of POLG-related disorder. POLG-related disorders share similar characteristics affecting muscles, nerves, and brain function. MEMSA symptoms usually manifest in early adulthood. It was formerly known as spinocerebellar ataxia with epilepsy (SCAE).

Cerebellar ataxia, characterized by impaired coordination and balance due to cerebellar dysfunction, is often the initial symptom of MEMSA. Epilepsy (recurrent seizures), often accompanied by myoclonus (involuntary muscle jerks), typically develops later. Seizures often start in the right arm before becoming generalized. Other symptoms may include severe brain dysfunction (encephalopathy) and muscle weakness (myopathy). Myopathy can affect proximal muscles (e.g., hips, thighs, upper arms, neck) or distal muscles (e.g., hands, feet). Exercise intolerance can make the myopathy more apparent.

Inheritance:

MEMSA follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. While carrying one copy of the mutated gene, the parents typically remain asymptomatic.