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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-08-2012
Location 8p22
Name spinal muscular atrophy associated with progressive myoclonic epilepsy
Corresponding gene ASAH
Main clinical features
  • associate lower-motor-neuron disease with progressive myoclonic epilepsy in childhood
  • onset of motor deficits at the age of 3 years after normal developmental milestones. and progressive muscle paralysis is caused by the involvement of lower motor neurons
  • disorder is progressive, and usually results in loss of ambulation and early death from respiratory insufficiency
  • milder reduction of enzymatic activity leads to a later-onset of symptoms restricted to spinal-cord motor neurons and other areas of the CNS
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease