| 单词 | myoclonic epilepsy myopathy sensory ataxia |
| 释义 | myoclonic epilepsy myopathy sensory ataxiamyoclonic epilepsy myopathy sensory ataxiaAn 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). |
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