Entry - 252320 - MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA - OMIM

 
ICD+
252320

MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA


Clinical Synopsis
 

Muscle
- Progressive muscle weakness
- Muscle hypotrophy
Neuro
- Orthostatic hypotension
- Autonomic dysfunction
Skin
- Profuse sweating
- Distal cyanosis related to cold
GI
- Esophageal achalasia
Lab
- Slow nerve conduction velocity
- Nonspecific sural nerve demyelination
Inheritance
- Autosomal recessive
▲ Close

▼ TEXT

Lisker et al. (1981) described 2 sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, and autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold, orthostatic hypotension, and esophageal achalasia. Nerve conduction velocity of several motor nerves was slow. Although no sensory abnormality was found, sural nerve biopsy showed nonspecific demyelination. No similar patients were identified in the literature.


▼ REFERENCES

  1. Lisker, R., Garcia-Ramos, G., de la Rosa-Laris, C., Diaz-Mitoma, F. Peripheral motor neuropathy associated with autonomic dysfunction in two sisters: new hereditary syndrome? Am. J. Med. Genet. 9: 255-259, 1981. [PubMed: 7282784, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
terry : 08/26/2008
mimman : 2/8/1996
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986

252320

MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA


SNOMEDCT: 230557001;   ORPHA: 2400;  



TEXT

Lisker et al. (1981) described 2 sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, and autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold, orthostatic hypotension, and esophageal achalasia. Nerve conduction velocity of several motor nerves was slow. Although no sensory abnormality was found, sural nerve biopsy showed nonspecific demyelination. No similar patients were identified in the literature.


REFERENCES

  1. Lisker, R., Garcia-Ramos, G., de la Rosa-Laris, C., Diaz-Mitoma, F. Peripheral motor neuropathy associated with autonomic dysfunction in two sisters: new hereditary syndrome? Am. J. Med. Genet. 9: 255-259, 1981. [PubMed: 7282784] [Full Text: https://doi.org/10.1002/ajmg.1320090311]


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
terry : 08/26/2008
mimman : 2/8/1996
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 9, 2024