Resident University of Arkansas for Medical Sciences PM&R Program Little Rock, Arkansas
Disclosure(s):
Kamaria Coleman, MD: No financial relationships to disclose
Case Diagnosis: Phenotypic female carrier of Duchenne Muscular Dystrophy
Case Description or Program Description: 52 year old female presents to the adult dystrophy clinic to establish care. She reports having a son that is diagnosed with Duchenne Muscular Dystrophy.
Setting: Out-patient clinic
Assessment/Results: Upon evaluation, she reports having prior genetic testing that shows evidence of the gene associated with Duchenne’s Muscular Dystrophy. She has muscle wasting throughout, calf pseudohypertrophy, significant cardiac issues and has been on the heart transplant list. She also had multiple cataract revisions and several complications of diabetes mellitus. Lastly, she reports having a father that passed away from complications of heart failure and that lost the ability to walk independently years before his demise.
Discussion (relevance): While female carriers of Duchenne’s Muscular Dystrophy, are thought to be a rare entity and there has classically been the ideology that females are not affected by this dystrophinopathy. We assert that further screening be completed for the mother’s of sons with Duchenne’s Muscular Dystrophy especially those that are phenotypic carriers as they can manifest complications thought to be isolated to those affected with Duchenne’s Muscular Dystrophy.
Conclusions: Phenotypic female carriers of son's with Duchenne’s Muscular Dystrophy should undergo screenings to identify possible complications originally thought to only affect individuals diagnosed with Duchenne’s Muscular Dystrophy.
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