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| Jankovic–Rivera syndrome ： ウィキペディア英語版 |
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.
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. 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.
== See also ==
* Spinal muscular atrophies
* Progressive myoclonus epilepsy
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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