Peripheral motor neuropathy-dysautonomia syndrome
Peripheral motor neuropathy-dysautonomia syndrome
Definition
Peripheral motor neuropathy-dysautonomia syndrome is characterized 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.
Also known as Lisker-Garcia-Ramos syndrome — per MONDO