" /> Spinal muscular atrophy with progressive myoclonic epilepsy - CISMeF





Preferred Label : Spinal muscular atrophy with progressive myoclonic epilepsy;

Symbol : SMAPME;

CISMeF acronym : SMAPME;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myoclonus, hereditary, with progressive distal muscular atrophy;

Description : Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal motor neurons, followed by the onset of myoclonic seizures. The disorder is progressive, and usually results in loss of ambulation and early death from respiratory insufficiency (summary by Zhou et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-acylsphingosine amidohydrolase 1 gene (ASAH1, 613468.0006);

Laboratory abnormalities : Normal serum creatine kinase;

Prefixed ID : #159950;

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27/07/2025


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