A 38-year-old man comes to the physician because of a 6-month history of chest discomfort and progressive dyspnea. He cannot do daily chores without feeling out of breath. He was diagnosed in childhood with a milder X-linked dystrophinopathy that has caused progressive proximal muscle weakness and gait abnormalities over the years. Physical examination shows a waddling gait and weak patellar reflexes. Cardiovascular examination shows a holosystolic murmur, displaced point of maximal impulse, and bilateral pitting edema of the ankles. Laboratory studies show elevated levels of brain natriuretic peptide. Which of the following is the most likely underlying cause of this patient's muscle weakness?
AIncreased number of CTG repeats in the DMPK gene
BInterruption of microtubule depolymerization through stabilization of GDP-tubulin
CImpaired connection of cytoskeletal actin filaments to membrane-bound dystroglycan
DCell–mediated cytotoxicity against skeletal muscle antigens in the endomysium
EDefective lysine-hydroxylysine crosslinking of tropocollagen
A 16-year-old boy is brought to the emergency department after losing consciousness. He had no preceding chest pain or palpitations. His father has cataracts and had frontal balding in his twenties but has no history of cardiac disease. His paternal grandfather also had early-onset balding. His pulse is 43/min. Physical examination shows frontal hair loss, temporal muscle wasting, and testicular atrophy. Neurologic examination shows bilateral foot drop and weakness of the intrinsic hand muscles. An ECG shows bradycardia with third-degree atrioventricular block. The severity of this patient's symptoms compared to that of his father is most likely due to which of the following genetic properties?
APenetrance
BCodominance
CAnticipation
DLoss of heterozygosity
EPleiotropy
A 32-year-old man presents to his primary care provider reporting weakness. He recently noticed that he has difficulty letting go of a doorknob or releasing his hand after shaking hands with others. His past medical history is notable for diabetes, for which he takes metformin. He drinks 2-3 beers per day, uses marijuana occasionally, and works as a security guard. His family history is notable for an early cardiac death in his father. His temperature is 98.6°F (37°C), blood pressure is 130/85 mmHg, pulse is 85/min, and respirations are 18/min. On exam, there is notable muscle atrophy in his hands, feet, and neck. He has delayed hand grip release bilaterally and is slow to return from a smile to a neutral facial expression. His gait is normal, and Romberg's test is negative. He also has frontal balding. This patient’s condition is caused by a mutation in which of the following genes?
ADystrophin
BSMN1
CFrataxin
DDMPK
EDPC
+ 7 more in the PDF
Browse all chapters