Q.

Genetic disorder leading to progressive degeneration of skeletal muscle is

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a

tetany 

b

osteoarthritis

c

myasthenia gravis 

d

Duchenne muscular dystrophy

answer is D.

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Detailed Solution

Duchenne muscular dystrophy (DMD) is a genetic disorder characterised by the progressive degeneration of skeletal muscles. The progressive muscle degeneration in DMD results in muscle weakness, difficulty walking, and eventually loss of mobility.  DMD is an X-linked recessive genetic disorder, meaning it primarily affects males. It is caused by a mutation in the DMD gene, which encodes a protein called dystrophin. Dystrophin is essential for the structural stability of muscle cells, and its absence or dysfunction leads to muscle weakness and degeneration.

  • Myasthenia Gravis (MG): Autoimmune neuromuscular disorder where the immune system attacks acetylcholine receptors, causing muscle weakness and other symptoms.
  • Tetany: Condition marked by involuntary muscle contractions, often due to low blood calcium levels (hypocalcemia), alkalosis, or parathyroid gland disorders.
  • Osteoarthritis: Degenerative joint disease resulting from cartilage wear and tear, leading to joint pain and stiffness, commonly affecting weight-bearing joints.
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Genetic disorder leading to progressive degeneration of skeletal muscle is