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Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

Published online by Cambridge University Press:  18 September 2015

G. Geoffroy ,
A. Barbeau ,
G. Breton ,
B. Lemieux ,
M. Aube ,
C. Leger  and
J.P. Bouchard
G. Geoffroy
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
A. Barbeau*
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
G. Breton
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
B. Lemieux
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
M. Aube
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
C. Leger
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
J.P. Bouchard
Affiliation:
Hôpital Ste-Justine, Montreal; the Clinical Research Institute of Montreal; the Centre Hospitalier Universitaire de Sherbrooke; the Hôpital Hôtel-Dieu de Montréal, and the Hôpital de I’Enfant-Jésus, Quebec City
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada H2W 1R7
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The 50 patients in this survey were classified by a panel of neurologists into 4 clinical sub-groups: Group la (“typical” Friedreich's ataxia, complete picture), Group lb (“typical” Friedreich's ataxia, incomplete picture), Group Ila (“atypical” Friedreich's ataxia, possible recessive Roussy-Levy syndrome), Group lib (heterogeneous ataxias). The clinical symptoms and signs were analyzed for each of these groups. A constellation of signs constantly present in Friedreich's ataxia and obligatory for diagnosis was described. Other important symptoms, such as the Babinski sign, kyphoscoliosis and pes cavus were found to be progressive, but not essential for the diagnosis at any given time. Finally, a host of other symptoms can only be called accessory. The progression of scoliosis was found to be an important tool in the differential diagnosis of ataxias. Our study also indicates, in contrast to the opinion of some authors, that absent deep tendon reflexes in the lower limbs and early dysarthria are essential in “typical” Friedreich's ataxia.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 3 , Issue 4 , November 1976 , pp. 279 - 286
Copyright
Copyright © Canadian Neurological Sciences Federation 1976

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