Jokela type spinal muscular atrophy

From WikiMD's Wellness Encyclopedia


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]

Symptoms[edit | edit source]

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[edit | edit source]

As of 2016 

it has been found only in Finland.[4]

History[edit | edit source]

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

See also[edit | edit source]

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References[edit | edit source]

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 "Uusi hitaasti etenevä motoneuronitauti löydetty Suomesta (Väitös: LL Manu Jokela, 11.12.2015, neurologia)" (in suomi). Retrieved 3 November 2016.
  2. ↑
  3. ↑ 3.0 3.1 Viljakainen, Veera. "Perinnöllistä Late-Onset Spinal Motor Neuronopathy –motoneuronitautia aiheuttavan CHCHD10-geenin sekvensointi". www.theseus.fi (in suomi). Retrieved 3 November 2016.
  4. ↑ 4.0 4.1 "Neurologi kuvasi uuden taudin - erityisen yleinen Pohjois-Karjalassa" (in suomi). Retrieved 3 November 2016.

Further reading[edit | edit source]

External links[edit | edit source]

Classification


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Contributors: Prab R. Tumpati, MD