Jokela type spinal muscular atrophy
| Late-onset spinal motor neuronopathy | |
|---|---|
| Other names | LOSMoN; Spinal muscular atrophy, Jokela type (SMAJ) |
Late-Onset Spinal Motor Neuronopathy (LOSMoN) is a slowly progressing motor neuron disease.[1] It is caused by a mutation in CHCHD10,[2] and it is inherited in an autosomally dominant pattern.[1]
Symptoms
The first symptoms include muscle cramps and muscle twitches affecting the upper and lower limbs, usually after age of 40. The disease is slowly progressive with adult-onset, and it results in weakness and mild muscle atrophy.[1][3] The disease does not reduce life expectancy.[1] However, it is difficult to differentiate the disease from a more fatal amyotrophic lateral sclerosis in diagnosis.[1]
History
The disease was first discovered in 2011.[3] It was first described by Manu Jokela, who was awarded with Young Researcher of the Year prize on 3 November 2016.[1][4] As of 2016[update] it has been found only in Finland.[4]
See also
References
- ^ a b c d e f "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. Retrieved 3 November 2016 – via PubMed.
- ^ a b Viljakainen, Veera. "Perinnöllistä Late-Onset Spinal Motor Neuronopathy –motoneuronitautia aiheuttavan CHCHD10-geenin sekvensointi". www.theseus.fi (in Finnish). Retrieved 3 November 2016.
- ^ a b "Neurologi kuvasi uuden taudin - erityisen yleinen Pohjois-Karjalassa" (in Finnish). Retrieved 3 November 2016.