What will be the likely cause of death in a 4-year-old boy who tires easily, exhibits weakness in the pelvic and shoulder girdles, and calf muscle enlargement, with elevated serum creatine kinase levels, and a biopsy showing marked variation in muscle fiber size and shape, muscle fiber necrosis, myophagocytosis, regenerating fibers, and fibrosis?
ARespiratory failure/complications
BCerebrovascular complications
CChronic kidney disease
DPulmonary embolism
A 4-year-old boy is brought to the physician by his parents due to frequent falls, inability to jump, and easy fatigue. Physical examination reveals weakness in the pelvic and shoulder girdles, as well as enlargement of the child's calf muscles. The serum level of creatine kinase is elevated. A biopsy of calf muscle reveals marked variation in size and shape of muscle fibers, with foci of muscle fiber necrosis, myophagocytosis, regenerating fibers, and fibrosis. Molecular diagnostic assays performed on muscle biopsy from the patient would show alterations in the length of the primary transcript for which muscle-associated protein?
ACreatine kinase
BDesmin
CDystrophin
DGlycogen phosphorylase
A 2-year- old boy presents with progressive clumsiness and difficulty walking. On physical examination, the child has large calves. He has difficulty walking on his toes and has a waddling gait as shown. Which of the following is the most likely diagnosis?
AMyotonic dystrophy
BFacioscapulo humeral dystrophy
CBecker muscular dystrophy
DDuchenne muscular dystrophy
ELimb-girdle muscular dystrophy
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