Autosomal recessive disorder – Pathology MCQ

Which of the following is an autosomal recessive disorder?
A. Duchenne muscular dystrophy
B. Friedreich ataxia
C. Wiskott Aldrich syndrome
D. Lesch Nyhan syndrome

Correct answer : B. Friedreich ataxia

Autosomal recessive inheritanceAutosomal recessive inheritance

  • Duchenne muscular dystrophy, Wiskott Aldrich syndrome and Lesch Nyhan syndrome are X-linked recessive disorders.
  • Friedreich ataxia is an autosomal recessive disorder.
  • Other autosomal recessive disorders include congenital adrenal hyperplasia, alkaptonuria, alpha 1 antitrypsin deficiency, phenylketonuria and Wilson disease.

Ref: Robbins & Cotran, Pathologic basis of disease, South Asia edition, Vol 1, p141, 142.
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