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| Spinal muscular atrophy with progressive myoclonic epilepsy | |
|---|---|
| Classification and external resources | |
| OMIM | 159950 |
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) — is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy) combined with progressive myoclonus epilepsy.[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.
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References[]
- ↑ DOI:10.1055/s-2002-37087
This citation will be automatically completed in the next few minutes. You can jump the queue or expand by hand - ↑ DOI:10.1016/j.ajhg.2012.05.001
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Category:Spinal muscular atrophy with progressive myoclonic epilepsy