• Source: 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. The symptoms appear in adulthood and gradually progress. The disease is caused by a mutation in the CHCHD10 gene and is inherited in an autosomal dominant pattern. It was first described by the Finnish neurologist Manu Jokela in 2011.




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. The disease does not affect life expectancy. However, it is difficult to differentiate the disease from a more fatal amyotrophic lateral sclerosis in diagnosis.
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.




Cause






Epidemiology


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




History


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




See also



Chromosome 22
Finnish heritage disease
Spinal muscular atrophies




References






Further reading


Late-onset spinal motor neuronopathy- a new neuromuscular disease at www.doria.fi
Penttilä, Sini; Jokela, Manu; Huovinen, Sanna; Saukkonen, Anna Maija; Toivanen, Jari; Lindberg, Christopher; Baumann, Peter; Udd, Bjarne (March 2014). "Late-onset spinal motor neuronopathy – A common form of dominant SMA". Neuromuscular Disorders. 24 (3): 259–268. doi:10.1016/j.nmd.2013.11.010. PMID 24360573. S2CID 100532.




External links

Kata Kunci Pencarian:

• Spinal muscular atrophies
• Jokela type spinal muscular atrophy
• Jokela (disambiguation)
• CHCHD10
• Pseudoathletic appearance