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Hereditary myoclonus - progressive distal muscular atrophy

Orpha number ORPHA2590
Synonym(s) Jankovic-Rivera syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset No data available
ICD-10
  • G25.3
ICD-O -
OMIM
UMLS
  • C1834569
MeSH -
MedDRA -
SNOMED CT -

Summary

This 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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