Disease

spinal muscular atrophy with progressive myoclonic epilepsy

Definition

A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22.

Synonyms

hereditary myoclonus-progressive distal muscular atrophy syndrome
Jankovic-Rivera syndrome

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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