" /> Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - CISMeF





Preferred Label : Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;

Symbol : SANDO;

CISMeF acronym : EPM5; SANDO; SCAE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive;

Included titles and symbols : Spinocerebellar ataxia with epilepsy; Epilepsy, progressive myoclonic, with sensory ataxic neuropathy; Epilepsy, progressive myoclonic, 5; SCAE; EPM5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNA polymerase-gamma gene (POLG, 174763.0002);

Laboratory abnormalities : Mildly increased serum lactate; Mildly increased serum creatine kinase;

Prefixed ID : #607459;

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03/05/2025


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