A 26-year-old man presents with difficulty releasing his grip after handshaking. He reports daytime sleepiness and progressive frontal balding. Vital signs show BP 118/76, HR 82, RR 16, temperature 37°C, and SpO2 98% on room air. Physical examination reveals early cataracts and testicular atrophy. Serum creatine kinase is mildly elevated at 320 IU/L. Cognitive assessment is intact. He denies recent medication use. Which genetic disorder is most likely responsible for these findings?
- A)Lambert Eaton myasthenic syndrome
- B)Duchenne muscular dystrophy
- C)Botulism
- D)Myotonic dystrophy type 1GABARITO
- E)Amyotrophic lateral sclerosis
Explicação
Delayed relaxation after contraction indicates myotonia, and the associated cataracts, frontal balding, and gonadal dysfunction are classic for myotonic dystrophy type 1. The disease results from CTG repeat expansion with multisystem involvement. Ver explicação completa e trilha adaptativa →