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Detection of Facial Hypotonia and Diagnosis of Facioscapulohumeral Dystrophy
Veeral S. Sheth, MD;
Michael J. Shapiro, MD
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We read with interest the article by Shields and colleagues1 in the Archives describing neovascular glaucoma as the initial manifestation of facioscapulohumeral dystrophy (FSHD). Although the Coats disease association is well established, the authors noted that ocular disease is rarely the initial manifestation of FSHD. They described a patient who had Coats disease diagnosed when she was 2 years of age. Subsequently, she developed generalized hypotonia and hearing loss. She had FSHD diagnosed at 5 years of age. Shields et al1 concluded from this case that FSHD should be considered in atypical cases of bilateral Coats disease.
Our experience indicates that facial hypotonia, as seen in the photograph of their patient, is an important trigger for considering FSHD. In the context of Coats disease and facial hypotonia, a directed history and neurologic examination for the detection of muscular weakness should be performed. . . . [Full Text of this Article] AUTHOR INFORMATION
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