Dystrophic gene mutation leads to
Correct Answer: Duchenne Muscular Dystrophy
Description: Mutation in the Dystrophin gene leads to Duchene muscular dystrophy.
Becker’s muscular dystrophy is also caused by a mutation in the dystrophin gene.
More questions on Duchenne’s muscular dystrophy
It is X-linked recessive disease
Clinical manifestation starts at 3-5 years of age
Loss of muscle strength is progressive with a predilection for proximal limb muscles.*
Gowers' manoeuvre*
On getting up from the door the patient uses his hand to climb up himself.
Pseudohypertrophy of calf muscles is seen
The term pseudohypertrophy is used because it is not true hypertrophy of muscles (the muscle is replaced by fat
and connective tissues)
Intellectual impairment is common in Duchenne muscular dystrophy
Serum creatinine phosphokinase levels are invariably elevated to 20-100 times normal.
Muscle biopsy shows muscle fibres of varying sizes.
Category:
Pathology
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