| 释义 |
myoclonic epilepsy myopathy sensory ataxia myoclonic epilepsy myopathy sensory ataxia An autosomal recessive condition that was once thought to be a distinct clinical entity, which is now recognised as part of the polymerase-gamma (POLG)-related disorder spectrum. MEMSA is characterised by epilepsy, myopathy and ataxia without ophthalmoplegia, and encompasses those disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). |