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Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Synonym(s) Hereditary myoclonus-progressive distal muscular atrophy syndrome
Jankovic-Rivera syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset No data available
  • G25.3
  • C1834569
MeSH -
MedDRA -


Disease definition

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

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