Neurodegenerative Diseases USMLE Step 1 Practice Question
A 32-year-old man presents with difficulty releasing his grip after a firm handshake. He reports frontal hair loss since his 20s, bilateral cataracts noted on ophthalmology exam, and testicular atrophy on physical examination. Vital signs include BP 128/82 mmHg, HR 88 bpm, RR 16, temp 37°C, SpO2 98% on room air. Serum creatine kinase is elevated at 420 U/L. Cognitive examination is intact. Which diagnosis best explains this clinical presentation?
Answer choices
- ALambert-Eaton syndrome
- BMyotonic dystrophyCorrect answer
- CDuchenne muscular dystrophy
- DGuillain-Barre syndrome
- EPolymyositis
- FMyotonia congenita from CLCN1 chloride channel mutation
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