Jokela type spinal muscular atrophy

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.

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 and signs

The first symptoms include muscle cramps and muscle twitches affecting the upper and lower limbs. They appear 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]

Ultimately, SMAJ can lead to reduced ability in motor function for skills such as walking. SMAJ may also reduce one’s nerve function and ability to sense vibrations.[4]

Cause

Epidemiology

As of 2016 it has been found only in a handful of families living in the Karelia region of Finland.[5]

History

The disease was first described by the Finnish neurologist Manu Jokela in 2011 who has also identified the gene responsible for the disease.[3][1][5]

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. S2CID 34294906.
  3. Viljakainen, Veera. "Perinnöllistä Late-Onset Spinal Motor Neuronopathy –motoneuronitautia aiheuttavan CHCHD10-geenin sekvensointi". www.theseus.fi (in Finnish). Retrieved 3 November 2016.
  4. "Spinal muscular atrophy, jokela type (Concept Id: C3554398) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 5 May 2021.
  5. "Neurologi kuvasi uuden taudin - erityisen yleinen Pohjois-Karjalassa" (in Finnish). Retrieved 3 November 2016.

Further reading


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