Muscular dystrophies — Flashcards

Flashcard 1: Duchenne muscular dystrophy classically presents with the _____ sign, in which a patient uses their upper extremities to help stand up

Answer: Gower

Flashcard 2: Which glycogen storage disorder is associated with cardiomegaly? _____

Answer: Pompe disease

Flashcard 3: What trinucleotide repeat disorder is associated with autism?_____

Answer: Fragile X syndrome

Flashcard 4: Duchenne muscular dystrophy presents with weakness in the _____ muscles and progresses superiorly

Answer: pelvic girdle

Flashcard 5: Hunter's syndrome

Answer:

Extra: accumulation of heparan/dermatan sulfatemild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly + aggressive behavior - corneal clouding XRiduronate sulfatase

Flashcard 6: Hurler's syndrome

Answer:

Extra: accumulation of heparan/dermatan sulfatedevelopmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegalyARα-L-iduronidase

Flashcard 7: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?

Answer: cardiac, palate, facial defects

Flashcard 8: Williams syndrome

Answer:

Extra: elfin facies, mild retardation, hyper-verbal, hyper-friendly, diverse cardiovascular problemshypercalcemia7q microdeletion (including elastin gene)

Flashcard 9: Prader-Willi syndrome

Answer:

Extra: mental retardation, hyperphagia, obesity, hypogonadism, hypotoniaimprinting disease; defect in the paternal genespaternal chromosome 15

Flashcard 10: X-linked recessive

Answer: yes, but only through females

Extra: many more males affectedno male-to-male transmission