Tags

Type your tag names separated by a space and hit enter

Dominantly inherited hypertrophic neuropathy.
Can J Neurol Sci. 1978 May; 5(2):239-46.CJ

Abstract

Clinical, electrophysiological, and histopathological studies of some members of a family with dominantly inherited hypertrophic neuropathy are presented. Twenty-five members were studied. Seventeen were abnormal on clinical examination. Their ages varied from 2 1/2 to 78 years. Age at onset in 14 of the 17 varied between 2 1/2 and 56 years. Pes cavus and palpable nerve thickening were present in more than half of the affected individuals. All patients had areflexia. Fifteen of the 17 had distal motor weakness as well as mild to moderate sensory impairment. Motor weakness affecting the proximal hip and shoulder girdle muscles was seen in 13 patients. Four patients gave a history of trigeminal neuralgia. Motor nerve conduction velocities were markedly impaired in all the clinically affected members. These studies were normal in the 8 unaffected members. Motor conduction velocities of the proximal segment of the ulnar nerve were slower compared to the distal segment in almost all the affected members. There was no significant correlation between the degree of clinical disability and the extent of impairment in the motor nerve conduction velocities. Sural nerve biopsies were studied. These observations are discussed.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

667751

Citation

Mongia, S K., et al. "Dominantly Inherited Hypertrophic Neuropathy." The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, vol. 5, no. 2, 1978, pp. 239-46.
Mongia SK, Ghanem Q, Preston D, et al. Dominantly inherited hypertrophic neuropathy. Can J Neurol Sci. 1978;5(2):239-46.
Mongia, S. K., Ghanem, Q., Preston, D., Lewis, A. J., & Atack, E. A. (1978). Dominantly inherited hypertrophic neuropathy. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 5(2), 239-46.
Mongia SK, et al. Dominantly Inherited Hypertrophic Neuropathy. Can J Neurol Sci. 1978;5(2):239-46. PubMed PMID: 667751.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dominantly inherited hypertrophic neuropathy. AU - Mongia,S K, AU - Ghanem,Q, AU - Preston,D, AU - Lewis,A J, AU - Atack,E A, PY - 1978/5/1/pubmed PY - 1978/5/1/medline PY - 1978/5/1/entrez SP - 239 EP - 46 JF - The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques JO - Can J Neurol Sci VL - 5 IS - 2 N2 - Clinical, electrophysiological, and histopathological studies of some members of a family with dominantly inherited hypertrophic neuropathy are presented. Twenty-five members were studied. Seventeen were abnormal on clinical examination. Their ages varied from 2 1/2 to 78 years. Age at onset in 14 of the 17 varied between 2 1/2 and 56 years. Pes cavus and palpable nerve thickening were present in more than half of the affected individuals. All patients had areflexia. Fifteen of the 17 had distal motor weakness as well as mild to moderate sensory impairment. Motor weakness affecting the proximal hip and shoulder girdle muscles was seen in 13 patients. Four patients gave a history of trigeminal neuralgia. Motor nerve conduction velocities were markedly impaired in all the clinically affected members. These studies were normal in the 8 unaffected members. Motor conduction velocities of the proximal segment of the ulnar nerve were slower compared to the distal segment in almost all the affected members. There was no significant correlation between the degree of clinical disability and the extent of impairment in the motor nerve conduction velocities. Sural nerve biopsies were studied. These observations are discussed. SN - 0317-1671 UR - https://www.unboundmedicine.com/medline/citation/667751/Dominantly_inherited_hypertrophic_neuropathy_ DB - PRIME DP - Unbound Medicine ER -