Clinical Clues to Differentiating Inherited and Noninherited Etiologies of Childhood Ataxias - 08/12/11
, 2, Ibtihel M. Ben Amor, MD , 3, Michael I. Shevell, MD, CM, FRCP 1, 2, ⁎ 
Reprint requests: Michael I. Shevell, MD, CM, FRCP, Room A-514, Montreal Children’s Hospital, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3.Abstract |
Objective |
To identify clinical features at presentation that differentiate inherited and noninherited etiologies of childhood ataxias.
Study design |
A retrospective chart review analysis was conducted on 167 patients evaluated in neurology outpatient clinics for ataxia or ataxia-related symptoms. The frequency of clinical features, determined a priori, in the 2 groups was compared.
Results |
A larger proportion of patients were diagnosed with a nongenetic cause than with a genetic cause (89% [148 patients] vs 11% [19 patients]). The majority of patients in the nongenetic group (56% [83/148]) presented early for medical evaluation, compared with 31% (6/19) in the genetic group. Consanguinity (16% vs 4%) and positive family history (16% vs 2%) were more frequent in the genetic group. Presenting symptoms of abnormal gait (95% vs 57%) and muscle weakness (47% vs 8%), including physical findings of abnormal muscle tone (63% vs 32%), abnormal reflexes (63% vs 16%), clonus (26% vs 9%), dysmetria (32% vs 5%), pes cavus (21% vs 1%), sensory deficits (16% vs 0%), and nonneurologic musculoskeletal abnormalities (58% vs 19%), were more prevalent in the genetic group.
Conclusion |
Certain clinical features can help delineate between inherited and noninherited causes of childhood ataxia and thus guide physicians in the targeted evaluation of patients.
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Plan
| The authors declare no conflicts of interest. |
Vol 160 - N° 1
P. 152-157 - janvier 2012 Retour au numéro
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