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 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.
Image credits: https://commons.wikimedia.org/wiki/File:Autorecessive.jpg