13 terms

Case 42: Muscular Dystrophy

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If a 4 year old boy has delayed walking, a waddling gait, clumsiness, and proximal muscle weakness, what is the most likely diagnosis?
Duchenne muscular dystrophy
What is the best test to diagnose Duchenne muscular dystrophy?
DNA peripheral blood analysis
If the DNA peripheral blood analysis does not come back conclusive what other test can be done?
Muscle biopsy
What blood test is often very elevated in cases of muscular dystrophy?
Creatine kinase
What is Gower sign?
A description of patients with proximal muscle weakness getting to a standing position
What is the most common hereditary neuromuscular degenerative disease?
Duchenne muscular dystrophy
At what point does the muscular dystrophy become obvious in patients with Duchennes?
At about 3-5 years of age when they start falling, getting proximal muscle weakness, and having a hip waddle
What happens to the calves in patients with DMD?
They get pseudohypertrophied
By what age are patients with Duchenne muscular dystrophy wheelchair bound?
By 10 to 13 years of age
Will female carriers of the dystrophin gene have elevated CK levels?
Yes
What are some of the therapies that can be used to slow disease progression?
Bracing, tendon lengthening, physiotherapy, and prednisone
What is the most common cause of death in patients with DMD?
Respiratory failure
What is the second most common form of muscular dystrophy?
Myotonic muscular dystrophy. This is associated with hatched facies where there is temporal wasting, a high arched palate, speech difficulties, retardation, cataracts, and cardiac problems
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