Spinal muscular atrophy with progressive myoclonic epilepsy
id:
spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy-181-6104885
title:
Spinal muscular atrophy with progressive myoclonic epilepsy
text:
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 loss (atrophy), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures. Only 12 known human families are described in scientific literature to have SMA-PME. SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the ASAH1 gene and i
brand slug:
wiki
category slug:
encyclopedia
description:
Rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting
original url:
https://en.wikipedia.org/wiki/Spinal_muscular_atrophy_with_progressive_myoclonic_epilepsy
date created:
2012-06-16T00:22:49Z
date modified:
2024-09-05T17:33:30Z
main entity:
{"identifier":"Q7577468","url":"https://www.wikidata.org/entity/Q7577468"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
16