Duchenne Muscular Dystrophy is a disease of-
Correct Answer: Sarcolemmal proteins
Description: Ans. is 'b' i.e., Sarcolemmal protein DUCHENNE MUSCULAR DYSTROPHY : (PSEUDOHYPEROPHIC MUSCULAR DYSTROPHY) o Duchenne muscular dystrophy is the most common hereditary neuromuscular disease affecting all races and ethnic groups. o Inheritance : X linked recessive o Presentation occurs between ages 3 and 5 Pathogenesis o Duchenne muscular dystrophy is caused by a mutation in the gene responsible for producing dystrophin. o Dystrophin is `subsarcolemmal protein' localized to the inner surface of the sarcolemma of the muscle fibre. o Dystrophin is pa of Dystrophin - Glycoprotein sarcolemmal complex and this protein deficiency leads to secondary loss of sarcoglycans and dystroglycans resulting in weakness of sarcolemma, causing membrane tears and muscle fiber necrosis. Clinical manifestations: o Gower's sign is positive o Pseudohyperophy of calf is seen (muscle is replaced by fat & connective tissue) o Loss of muscle strength is progressive. o Proximal muscles and neck flexors are involved more o Leg involvement is more severe than arm involvement. o Contractures of heel cords and iliotibial band occurs (by age of 6 years) o progressive scoliosis develops.
Category:
Pediatrics
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now