Late-onset spinal motor neuronopathy

Late-onset spinal motor neuronopathy
Synonyms	LOSMoN; Spinal muscular atrophy, Jokela type (SMAJ)
Classification and external resources
OMIM	615048
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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.

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.

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^[update] it has been found only in Finland.

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