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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-08-2010
Symbol CBSMA
Location 12q24.11
Name congenital non-progressive (benign), spinal muscular atrophy
Corresponding gene TRPV4
Other symbol(s) SMAD2, DSMAC
Main clinical features
  • affecting lower limbs and spine muscles, presenting at birth with arthrogryposis
  • nonprogressive congenital lower motor neuron disorder restricted to the lower part of the body, antenatal onset
  • bilateral talipes equinovarus and flexion contractures of the knees and hips
  • reflexes decreased or absent; no sensory abnormalities
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease