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Charcot-Marie-Tooth disease associated with "essential tremor": Report of 7 cases and a review of the literature.
J Neurol Sci. 1976 May; 28(1):17-40.JN

Abstract

A study of 7 cases of Charcot-Marie-Tooth disease associated with a dyskinesia resembling benign essential tremor is presented. In 4 patients, the family history strongly suggested an autosomal mode of transmission, 2 cases were sporadic without an established genetic pattern and 1 was probably recessive. The distal parts of the upper and lower limbs showed imparied muscle strength with slight or no atrophy in 4 patients and conspicuous weakness and wasting in another 2. One patient was a chairbound. Although essential tremor and the tremor seen in these patients are clinically (phenotypically) similar it seems possible that they result from two different genotypes. Further, it seems that cases with Charcot-Marie-Tooth disease and "essential tremor" are not the result of the association of two separate dominant characteristics which are generally inherited as mendelian dominant traits. In spite of the diversity of the clinical manifestations of the peripheral neuropathy, the semiologically different types of essential tremor and the electrophysiological data, it is concluded that patients who develop a peripheral neuropathy on a familial basis and who exhibit clinical features of similar character, suffer from a common type of pathological disorder. Stress is laid upon the fact that Friedreich's ataxia and Charcot-Marie-Tooth disease share many clinical features. It is suggested that when Friedreich's ataxia and Charcot-Marie-Tooth disease seem to be present in the same individual and/or alternate in different members of the same family, the process is likely to be one of Charcot-Marie-Tooth disease. The value of the type of inheritance, natural history, clinical examination and electrophysiological data in differentiating Charcot-Marie-Tooth disease (with or without essential tremor) from other degenerative disorders is analyzed.

Authors

No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

932772

Citation

Salisachs, P. "Charcot-Marie-Tooth Disease Associated With "essential Tremor": Report of 7 Cases and a Review of the Literature." Journal of the Neurological Sciences, vol. 28, no. 1, 1976, pp. 17-40.
Salisachs P. Charcot-Marie-Tooth disease associated with "essential tremor": Report of 7 cases and a review of the literature. J Neurol Sci. 1976;28(1):17-40.
Salisachs, P. (1976). Charcot-Marie-Tooth disease associated with "essential tremor": Report of 7 cases and a review of the literature. Journal of the Neurological Sciences, 28(1), 17-40.
Salisachs P. Charcot-Marie-Tooth Disease Associated With "essential Tremor": Report of 7 Cases and a Review of the Literature. J Neurol Sci. 1976;28(1):17-40. PubMed PMID: 932772.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Charcot-Marie-Tooth disease associated with "essential tremor": Report of 7 cases and a review of the literature. A1 - Salisachs,P, PY - 1976/5/1/pubmed PY - 1976/5/1/medline PY - 1976/5/1/entrez SP - 17 EP - 40 JF - Journal of the neurological sciences JO - J. Neurol. Sci. VL - 28 IS - 1 N2 - A study of 7 cases of Charcot-Marie-Tooth disease associated with a dyskinesia resembling benign essential tremor is presented. In 4 patients, the family history strongly suggested an autosomal mode of transmission, 2 cases were sporadic without an established genetic pattern and 1 was probably recessive. The distal parts of the upper and lower limbs showed imparied muscle strength with slight or no atrophy in 4 patients and conspicuous weakness and wasting in another 2. One patient was a chairbound. Although essential tremor and the tremor seen in these patients are clinically (phenotypically) similar it seems possible that they result from two different genotypes. Further, it seems that cases with Charcot-Marie-Tooth disease and "essential tremor" are not the result of the association of two separate dominant characteristics which are generally inherited as mendelian dominant traits. In spite of the diversity of the clinical manifestations of the peripheral neuropathy, the semiologically different types of essential tremor and the electrophysiological data, it is concluded that patients who develop a peripheral neuropathy on a familial basis and who exhibit clinical features of similar character, suffer from a common type of pathological disorder. Stress is laid upon the fact that Friedreich's ataxia and Charcot-Marie-Tooth disease share many clinical features. It is suggested that when Friedreich's ataxia and Charcot-Marie-Tooth disease seem to be present in the same individual and/or alternate in different members of the same family, the process is likely to be one of Charcot-Marie-Tooth disease. The value of the type of inheritance, natural history, clinical examination and electrophysiological data in differentiating Charcot-Marie-Tooth disease (with or without essential tremor) from other degenerative disorders is analyzed. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/932772/Charcot_Marie_Tooth_disease_associated_with_"essential_tremor":_Report_of_7_cases_and_a_review_of_the_literature_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0022-510X(76)90045-9 DB - PRIME DP - Unbound Medicine ER -