Results 1 -
8
of
8
for
Myoclonic epilepsy myopathy sensory ataxia
Did you mean mayoclinic epilepsy myopathy sensory ataxia?
- Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The ... noticeable during exercise (exercise intolerance). The prevalence of myoclonic epilepsy myopathy sensory ataxia is unknown. MEMSA is caused by mutations in ...
- ... POLG gene cause another POLG-related disorder called myoclonic epilepsy myopathy sensory ataxia (MEMSA), which is characterized by recurrent seizures (epilepsy), ...
- ... in a few people with variant forms of myoclonic epilepsy with ragged-red fibers ... hearing loss, seizures, and intellectual impairment. Two mutations ...
- ... found in a few people with features of myoclonic epilepsy with ragged-red fibers ... (ataxia), hearing loss, seizures, and diabetes.Mutations that cause ...
- ... is characterized by recurrent severe headaches, muscle weakness (myopathy), hearing ... movement (ataxia), and abnormal muscle cells known as ragged-red ...
- ... new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ... myopathy, deafness, and sporadic seizures associated with a novel ...
- ... TK gene have been identified in people with myoclonic epilepsy with ragged-red fibers (MERRF). This condition is ... MT-TK gene. Affected individuals may also have myopathy and ataxia. This mutation (written as G8363A) replaces the nucleotide ...
- ... TS1, can cause the signs and symptoms of myoclonic epilepsy with ragged-red fibers (MERRF). These genes provide ...