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References OMIM Gene GeneReviews HGMD HGNC
last update : 16-04-2019
Symbol SMALO
Location 22q12
Name spinal muscular atrophy late onset
Other name(s)
  • late-onset spinal motor neuronopathy
  • spinal muscular atrophy, Jokela type
  • Corresponding gene CHCHD10
    Other symbol(s) LOSMON, SMAJ
    Main clinical features
  • disorder characterized by degeneration of lower motor neuron with weakness distal, and proximal
  • adult onset of painful cramps and slowly progressive very late-onset weakness and atrophy of proximal and distal muscles; all patients were still ambulant, at least for short distances
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease