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Autosomal recessive lower motor neuron disease with childhood onset

Disease definition

A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive distal spinal muscular atrophy type 4
    • Distal spinal muscular atrophy type 4
    • dSMA4
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G12.2
  • ICD-11: 8B61.4
  • OMIM: 611067
  • UMLS: C1970211
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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