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Thursday, 30 July 2015

What's your diagnosis? (The answer is given)

A 26 year old wheelchair-bound male was referred  to the cardiologist after surviving ventricular tachycardia.
Echocardiography revealed Hypertrophic Obstructive Cardiomyopathy (HOCM).
Significant findings on examination included wasted and weak lower limbs with impaired position sensation and upgoing planters bilaterally, impaired motor coordination in both upper limbs, and bilateral horizontal nystagmus.

The diagnosis is Friedreich's ataxia

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