Diagnostic Dilemma

Becker's Muscular Dystrophy


Author: Pediatric Oncall
Question
A 12 year old boy born of non consanguineous marriage presented with gradual weakness of all 4 limbs for 3 years. Weakness initially started in both legs with clumsiness of gait and frequent falls and inability to get up from sitting position. Now since the past 1 year, the child is not able to walk or stand and there is now weakness of upper limbs with inability to lift heavy objects. There is no similar complaint in family. He is 4th of 4 children and all the 3 elder siblings are girls and are asymptomatic.

On examination, he had pseudohypertrophy of calves with hypotonia. Power was 2/5 at the hip and at the shoulder joint and 3/5 at wrist, ankles, knees and elbows. He had absent reflexes with planters’ flexors. Investigations showed elevated CPK levels (CPK = 2906 IU/L). His blood analysis for Xp21 deletion proved a diagnosis of Becker’s muscular dystrophy (BMD).

What are the associated problems in this disease?


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