Peripheral motor neuropathy-dysautonomia syndrome

Orpha code: 2400OMIM code: 252320

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Lisker-Garcia-Ramos syndrome
Zespół Liskera, Garcia i Ramosa
Kod ORPHA
2400
Kod OMIM
252320
Kod ICD10
G60.8
Kod ICD11
8C2Y

No additional description.

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