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Discussion Starter · #1 ·
A 5-year-old boy is seen because of torticollis, clumsiness and gait difficulties for the past month. Which one on the following is the most likely diagnosis?

1) behavior disorder
2) problems with vision
3) cerebellar damage
4) atlantoaxial subluxation
5) myopathy
 

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It seems like Friedreich's ataxia (FA), which has to do with interruption the connection between the posterior columns and the cerebellum. It should indeed be differentiated from Duchenne's muscular dystrophy (DMD). FA also involves the heart (characteristic cardiomyopathy) and it is autosomal recessive, whereas DMD is X-linked, but there is no such information available in this question.

Sticking to the data of the question stem, the only differentiating hint is that in FA one would expect torticollis, whereas in DMD scoliosis is more typical. DMD mainly involves the limbs and scoliosis ensues partially as a counteracting phenomenon. On the contrary, torticollis in FA probably happens due to inability of the cerebellum to exert its anti-gravity properties.

So, the correct answer should be 3.
 
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