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Terms in this set (4)
Your 20 year old patient presents complaining of muscle weakness that started in his upper arms. Upon further workup you learn that he also has palpitations and episodes of arrhythmia. He also tells you that he had joint contractures when he was young. What condition do you suspect?
A. Becker muscular dystrophy
B. Limb Girdle muscular dystrophy
C. Emery Dreifuss muscular dystrophy
D. Fascioscapulo muscular dystrophy
C. Emery Dreifuss
This patient's features describe the classic triad of symptoms: contractures, humero-peroneal weakness, and cardiac involvement.
Upon taking the family history from your patient you suspect of having EDMD, the pedigree appears to look like X-linked inheritance. What gene do you most expect?
EMD FLH1 both cause X-linked EDMD,but EMD accounts for 61% of XL cases.
You suspect your patient has EDMD. Upon taking the family history, your patient tells you that his father had joint contractures in childhood as well, but that he died suddenly in a car accident at the age of 25. What gene do you most suspect for this patient?
This sounds like autosomal dominant EDMD.
Which of the following could you find in a patient with emery dreifuss muscular dystrophy? (choose all that apply)
A. Decreased amplitude on nerve conduction studies
B. Increased nuclei and necrotic fibers on muscle biopsy
C. Significantly increased serum CK
E. Absent emerin on western blot
B and E could be features found in a patient with EDMD
CK is not commonly elevated, and if it is, it is just slightly at the beginning of the disease onset.
EDMD patients typically have normal nerve conduction studies.
THIS SET IS OFTEN IN FOLDERS WITH...
Duchenne/Becker Muscle Dystrophy
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