spinal muscular atrophy with progressive myoclonic epilepsy

Term ID

DOID:0111527

Synonyms

• hereditary myoclonus-progressive distal muscular atrophy syndrome
• Jankovic-Rivera syndrome
• SMA-PME
• SMAPME

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. (2)

References

• GARD:3044
• GARD:3875
• MESH:C537563
• MIM:159950
• ORDO:2590
• SNOMEDCT_US_2023_03_01:703524005
• UMLS_CUI:C1834569

Ontology

Human Disease   ( DOID:0111527 )