What genetic disorder is characterized by cataracts as one of its symptoms?

Study for the NBME Form 14 Step 2 Test with comprehensive questions and detailed explanations. Enhance your test-taking skills and ace your exam with confidence!

Myotonic dystrophy is indeed characterized by a variety of symptoms, including cataracts. This genetic disorder is caused by a mutation in the DMPK gene, leading to an abnormal increase of CTG repeats in the DNA sequence. One of the hallmark features of myotonic dystrophy is the early development of cataracts, which can occur even in younger patients, whereas cataracts typically manifest later in life in the general population.

In addition to cataracts, myotonic dystrophy presents with muscle weakness and myotonia, which is a delayed relaxation of muscles after contraction. The genetic involvement of myotonic dystrophy is significant because it can also affect multiple systems in the body, leading to cardiovascular complications and endocrine abnormalities.

The other conditions listed do not feature cataracts as a prominent or characteristic symptom. Cerebral palsy primarily affects motor function and is not known for associated ocular symptoms like cataracts. Becker muscular dystrophy and spinal muscular atrophy focus mainly on muscle degeneration and weakness without the inclusion of cataracts in their symptomatology. Thus, the presence of cataracts helps to distinctly identify myotonic dystrophy among the listed disorders.

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