Spinal muscular atrophy with progressive myoclonic epilepsy
| Spinal muscular atrophy with progressive myoclonic epilepsy | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 159950 |
| Patient UK | Spinal muscular atrophy with progressive myoclonic epilepsy |
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy), predominantly affecting distal muscles, combined with denervation and myoclonic seizures.[1]
SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the ASAH1 gene and is inherited in an autosomal recessive manner.[2] As with many genetic disorders, there is no known cure to SMA-PME.
The condition was first described in 1979 by American researchers Joseph Jankovic and Victor M. Rivera.[3]
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