Question:
The chromosome involved in myotonic dystrophy is
The chromosome involved in myotonic dystrophy is
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Recall the CTG repeat in the DMPK gene at 19q13.
Updated On: Jun 24, 2026
- Chromosome 19
- Chromosome 20
- Chromosome 21
- Chromosome 22
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The Correct Option is A
Solution and Explanation
Step 1: Myotonic dystrophy type 1 is the most common adult muscular dystrophy and is an autosomal dominant disorder.
Step 2: It is caused by an unstable trinucleotide (CTG) repeat expansion in the DMPK gene located on chromosome 19 (19q13). This places the answer at chromosome 19.
Step 3: Characteristic features include distal myopathy (in contrast to the proximal weakness of most other muscular dystrophies), selective atrophy of type I fibres, and myotonia - a slow relaxation of grip after a forced voluntary closure of the hand.
Step 4: Why the distractors are wrong: chromosomes 20, 21, and 22 are not the loci for myotonic dystrophy. (Chromosome 21 is notably linked to Down syndrome and familial Alzheimer's APP gene, not myotonic dystrophy.)
Step 2: It is caused by an unstable trinucleotide (CTG) repeat expansion in the DMPK gene located on chromosome 19 (19q13). This places the answer at chromosome 19.
Step 3: Characteristic features include distal myopathy (in contrast to the proximal weakness of most other muscular dystrophies), selective atrophy of type I fibres, and myotonia - a slow relaxation of grip after a forced voluntary closure of the hand.
Step 4: Why the distractors are wrong: chromosomes 20, 21, and 22 are not the loci for myotonic dystrophy. (Chromosome 21 is notably linked to Down syndrome and familial Alzheimer's APP gene, not myotonic dystrophy.)
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