Global InformationJokela type spinal muscular atrophy information
| Jokela type spinal muscular atrophy | |
|---|---|
| Other names | Late-onset spinal motor neuronopathy, LOSMoN; Spinal muscular atrophy, Jokela type (SMAJ) |
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| The disease is common in North Karelia | |
Jokela type spinal muscular atrophy (SMAJ), also known as late-onset spinal motor neuronopathy (LOSMoN), is an ultra-rare neuromuscular disorder characterized by muscle twitches and cramps.[1] The symptoms appear in adulthood and gradually progress. The disease is caused by a mutation in the CHCHD10 gene[2] and is inherited in an autosomal dominant pattern.[1] It was first described by the Finnish neurologist Manu Jokela in 2011.
- ^ a b "Uusi hitaasti etenevä motoneuronitauti löydetty Suomesta (Väitös: LL Manu Jokela, 11.12.2015, neurologia)" (in Finnish). Retrieved 3 November 2016.
- ^ Penttilä, Sini; Jokela, Manu; Bouquin, Heidi; Saukkonen, Anna Maija; Toivanen, Jari; Udd, Bjarne (1 January 2015). "Late onset spinal motor neuronopathy is caused by mutation in CHCHD10". Ann. Neurol. 77 (1): 163–172. doi:10.1002/ana.24319. PMID 25428574. S2CID 34294906.