Peripheral motor neuropathy-dysautonomia syndrome

Orpha code: 2400OMIM code: 252320

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.

Disease data
Classification

Disease

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl