𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Peripheral motor neuropathy associated with autonomic dysfunction in two sisters: New hereditary syndrome?

✍ Scribed by Lisker, Rubén ;García-Ramos, Guillermo ;de la Rosa-Laris, Carlos ;Díaz-Mitoma, Francisco ;Opitz, John M.


Publisher
John Wiley and Sons
Year
1981
Tongue
English
Weight
404 KB
Volume
9
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis


Abstract

We describe two sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. Nerve conduction velocity of several motor nerves was slow, and although no sensory abnormalities were present, sural nerve biopsy revealed severe nonspecific demyelination. No similar patients could be found in the literature and we therefore suggest the possibility that these individuals have a newly recognized hereditary syndrome.