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Paediatric

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Neurology

Question
69 out of 92
 

A 6 year old boy presents with progressive weakness in muscles, and difticulty in walking upstairs. He has difficulty in walking on his toes and has a waddling gait. Hypertrophy of calf rnuscles in noted. His CPKlevels are 10,000IU. Which of the following is the most appropriate diagnosis - (LQ)



A Duchenne muscular dystrophy

B Polymyositis

C Congenital myopathy

D Myotonia congenital

Ans. A

Duchenne muscular dystrophy

Clinical features of DMD

The age of onset is 2-5 years.

Early development of the child is normal, the disease begins to manifest when the child starts walking.

The child walks clumsily, has difficulty in climbing stairs and the gait is waddling.

Hypertrophy of calf muscle is a characteristic sign and is visible by the age of 4-5 years.

This is called pseudo hypertrophy because it is not true hypertrophy of muscles, instead the muscle is replaced by fat and connective tissues.

Pelvic girdle involvement is very common and can be elicited by Gower’s sign.

There is characteristic involvement of the muscle

Calf muscles

Glutei

Deltoid (All these muscles are hypertrophied)

Brachioradialis I

Tongue muscle I

Sternal head of pectoralis maior (These muscles are atrophied)

Supra spinatus

Eventually all muscles are atrophied

Intelligence is usually subnormal

Patient die in the second decade of life because of respiratory failure or due to associated cardiomyopathy.

Diagnosis of Duchenne's muscular dystrophy is made by -

Elevotion of the enzymes of the muscle -> creatinine phosphokinase.

Histopathology demonstrstes diffuse changes of degeneration and muscle fibres of varying size.

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