Posted On :
16 Jan 2009
A 6yrs old boy, second child of a non consangous marriage {has an 9yrs old brother,normal} presented with weakness,repeated falls while walking, lumber lordosis, waddling gait and positive Gower sign for last four months. Also there is history of mild to moderate birth asphyxia and delayed motor milestones. {Intelligence is normal}. On examination there is no sensory involvement. Child has a characterstic marfanoid facies{dolicephaly,high arched palate, thin long extremities etc}. Mother also tells about repeated chest infections during infancy and childhood. CPK=8625I per dl, muscle biopsy shows fraying of muscle fibres, internalisation of nuclei and variation in size of muscle fibres. No family history of similar illness. Please help in making an definitive diagnosis.
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