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Peripheral motor neuropathy-dysautonomia syndrome

Disease definition

Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.

ORPHA:2400

Classification level: Disorder
  • Synonym(s):
    • Lisker-Garcia-Ramos syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 252320
  • UMLS: C1854961
  • MeSH: C536988
  • GARD: -
  • MedDRA: -
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