Jokela type spinal muscular atrophy

Jokela type spinal muscular atrophy (SMAJ), also known as late-onset spinal motor neuronopathy (LOSMoN), is a slowly progressing neuromuscular disorder.[1] It is caused by a mutation in the CHCHD10 gene[2] and is inherited in an autosomal dominant pattern.[1]

Jokela type spinal muscular atrophy
Other namesLate-onset spinal motor neuronopathy, LOSMoN; Spinal muscular atrophy, Jokela type (SMAJ)
The disease is common in North Karelia

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 results in weakness and mild muscle atrophy.[1][3] The disease does not affect life expectancy.[1] However, it is difficult to differentiate the disease from a more fatal amyotrophic lateral sclerosis in diagnosis.[1]

Epidemiology

As of 2016 it has been found only in Finland.[4]

History

The disease was first described by Manu Jokela in 2011.[3][1][4]

See also

References
  1. "Uusi hitaasti etenevä motoneuronitauti löydetty Suomesta (Väitös: LL Manu Jokela, 11.12.2015, neurologia)" (in Finnish). Retrieved 3 November 2016.
  2. 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.
  3. Viljakainen, Veera. "Perinnöllistä Late-Onset Spinal Motor Neuronopathy –motoneuronitautia aiheuttavan CHCHD10-geenin sekvensointi". www.theseus.fi (in Finnish). Retrieved 3 November 2016.
  4. "Neurologi kuvasi uuden taudin - erityisen yleinen Pohjois-Karjalassa" (in Finnish). Retrieved 3 November 2016.

Further reading
Classification


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.