Gradual muscle weakness


A 12 year old boy born of non consanguineous marriage presented with gradual weakness of all 4 limbs since 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. However, his fine motor movements are normal. The child has put on lot of weight since last 6 months. There is no convulsion or similar complaints in family. He is 4th of 4 children and all the 3 elder siblings are girls and are asymptomatic.

On examination, he was overweight (weight = 39 kg) and had pseudohypertrophy of calves with hypotonia. Power was 2/5 at the hip and at the shoulder joint and 3/5 at wrist ankles, and knees and elbows. He had absent reflexes with planters’ flexors.

What is the diagnosis?
Answer Discussion :
Charles Echaat
one hour ago
wafaa musa
Duchene muscular dystrophy
1 Day ago

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