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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?

Published online by Cambridge University Press:  18 September 2015

P. Salisachs
Affiliation:
Neurological Services, Ciudad Sanitaria de la Seguridad Social, Badatala, Barcelona, Spain
L.J. Findley
Affiliation:
Regional Neurological Centre, Oldchurch Hospital, Romford, England
M. Codina
Affiliation:
Hospital de la Santa Cruz y de San Pablo, Barcelona
P. La Torre
Affiliation:
Neurological Section, Hospital de la Barceloneta, Barcelona
J.M. Martinez-Lage
Affiliation:
Department of Neurology, University of Pamplona, Navarra, Pamplona, Spain
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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, impaired 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 and Charcot-Marie-Tooth disease is reviewed and it is concluded that these two disorders are distinct clinical and pathological entities.

Type
Research Article
Copyright
Copyright © Canadian Neurological Sciences Federation 1982

References

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