Details of Disease | DrugMAP

General Information of Disease (ID: DISN54P4)

Disease Name	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Synonyms	Jankovic Rivera syndrome; hereditary myoclonus and progressive distal muscular atrophy; myoclonus hereditary progressive distal muscular atrophy; SMAPME; myoclonus, hereditary, with progressive distal muscular atrophy; spinal muscular atrophy with progressive myoclonic epilepsy; Jankovic-Rivera syndrome; hereditary myoclonus-progressive distal muscular atrophy syndrome
Definition	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.
Disease Hierarchy	DISVPLB4: ASAH1-related disorders DISTLKOB: Spinal muscular atrophy DIS1MTJJ: ASAH1-related sphingolipidosis DIS6XNI0: Hereditary motor neuron disease DISOJJ2D: Movement disorder DISN54P4: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Disease Identifiers	MONDO ID MONDO_0008045 MESH ID C537563 UMLS CUI C1834569 OMIM ID 159950 MedGen ID 371854 Orphanet ID 2590 SNOMED CT ID 703524005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASAH1	OT1DNGXL	Definitive	Autosomal recessive	[1]
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References

1	Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am J Hum Genet. 2012 Jul 13;91(1):5-14. doi: 10.1016/j.ajhg.2012.05.001. Epub 2012 Jun 14.