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A case of Charcot-Marie-Tooth disease mimicking Friedreich's ataxia: is there any association between friedreich's ataxia and Charcot-Marie-Tooth disease?
Can J Neurol Sci. 1982 May; 9(2):99-103.CJ

Abstract

The authors report a case of Charcot-Marie-Tooth disease that mimicked Friedreich's ataxia and featured impaired tendon reflexes in the limbs, incoordination mimicking cerebellar disease in the extremities, extensor plantar responses on both sides, bilateral foot deformity, imparied position sense in the toes, absent vibratory sense in the distal parts of the legs and minimal distal weakness with wasting. Motor conduction velocity in the upper limbs was substantially reduced. Other cases similar in nature reported in the literature resemble spino-cerebellar degeneration in general, and Friedreich's ataxia, in particular. It is emphasized that the natural history, EMG, motor conduction velocity studies and examination of other affected members of the family permit the correct diagnosis to be made in such cases. It is also emphasized that patients similar to the one reported here may also resemble, and should be differentiated from, cases of familial dorsal column ataxia (Biemond type). Stress is put upon the fact that when Charcot-Marie-Tooth disease mimicks spino-cerebellar degeneration, substantial slowing of motor conduction in the upper limbs is generally sufficient to establish the diagnosis. The relation between Friedreich's ataxia an Charcot-Marie-Tooth disease is reviewed and it is concluded that these two disorders are distinct clinical and pathological entities.

Authors

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

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7104897

Citation

Salisachs, P, et al. "A Case of Charcot-Marie-Tooth Disease Mimicking Friedreich's Ataxia: Is There Any Association Between Friedreich's Ataxia and Charcot-Marie-Tooth Disease?" The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, vol. 9, no. 2, 1982, pp. 99-103.
Salisachs P, Findley LJ, Codina M, et al. A case of Charcot-Marie-Tooth disease mimicking Friedreich's ataxia: is there any association between friedreich's ataxia and Charcot-Marie-Tooth disease? Can J Neurol Sci. 1982;9(2):99-103.
Salisachs, P., Findley, L. J., Codina, M., La Torre, P., & Martinez-Lage, J. M. (1982). A case of Charcot-Marie-Tooth disease mimicking Friedreich's ataxia: is there any association between friedreich's ataxia and Charcot-Marie-Tooth disease? The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 9(2), 99-103.
Salisachs P, et al. A Case of Charcot-Marie-Tooth Disease Mimicking Friedreich's Ataxia: Is There Any Association Between Friedreich's Ataxia and Charcot-Marie-Tooth Disease. Can J Neurol Sci. 1982;9(2):99-103. PubMed PMID: 7104897.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of Charcot-Marie-Tooth disease mimicking Friedreich's ataxia: is there any association between friedreich's ataxia and Charcot-Marie-Tooth disease? AU - Salisachs,P, AU - Findley,L J, AU - Codina,M, AU - La Torre,P, AU - Martinez-Lage,J M, PY - 1982/5/1/pubmed PY - 1982/5/1/medline PY - 1982/5/1/entrez SP - 99 EP - 103 JF - The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques JO - Can J Neurol Sci VL - 9 IS - 2 N2 - The authors report a case of Charcot-Marie-Tooth disease that mimicked Friedreich's ataxia and featured impaired tendon reflexes in the limbs, incoordination mimicking cerebellar disease in the extremities, extensor plantar responses on both sides, bilateral foot deformity, imparied position sense in the toes, absent vibratory sense in the distal parts of the legs and minimal distal weakness with wasting. Motor conduction velocity in the upper limbs was substantially reduced. Other cases similar in nature reported in the literature resemble spino-cerebellar degeneration in general, and Friedreich's ataxia, in particular. It is emphasized that the natural history, EMG, motor conduction velocity studies and examination of other affected members of the family permit the correct diagnosis to be made in such cases. It is also emphasized that patients similar to the one reported here may also resemble, and should be differentiated from, cases of familial dorsal column ataxia (Biemond type). Stress is put upon the fact that when Charcot-Marie-Tooth disease mimicks spino-cerebellar degeneration, substantial slowing of motor conduction in the upper limbs is generally sufficient to establish the diagnosis. The relation between Friedreich's ataxia an Charcot-Marie-Tooth disease is reviewed and it is concluded that these two disorders are distinct clinical and pathological entities. SN - 0317-1671 UR - https://www.unboundmedicine.com/medline/citation/7104897/A_case_of_Charcot_Marie_Tooth_disease_mimicking_Friedreich's_ataxia:_is_there_any_association_between_friedreich's_ataxia_and_Charcot_Marie_Tooth_disease L2 - http://www.diseaseinfosearch.org/result/636 DB - PRIME DP - Unbound Medicine ER -