Jokela Type Spinal Muscular Atrophy

Watchlist
Retrieved
2021-01-18
Source
Trials
—
Genes
Drugs
—

Jokela type spinal muscular atrophy (SMAJ), also known as late-onset spinal motor neuronopathy (LOSMoN), is a slowly progressing neuromuscular disorder. It is caused by a mutation in the CHCHD10 gene and is inherited in an autosomal dominant pattern.

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 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.

Epidemiology

As of 2016 it has been found only in Finland.

History

The disease was first described by Manu Jokela in 2011.

See also

  • Chromosome 22
  • Finnish heritage disease
  • Spinal muscular atrophies