OMIM 615048 | ||
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Synonym LOSMoN; Spinal muscular atrophy, Jokela type (SMAJ) | ||
Late-Onset Spinal Motor Neuronopathy (LOSMoN) is a slowly progressing motor neuron disease. It is caused by a mutation in CHCHD10, and it is inherited in an autosomally dominant pattern.
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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. The disease does not reduce life expectancy. However, it is difficult to differentiate the disease from a more fatal amyotrophic lateral sclerosis in diagnosis.
History
The disease was first discovered in 2011. It was first described by Manu Jokela, who was awarded with Young Researcher of the Year prize on 3 November 2016. As of 2016 it has been found only in Finland.