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Detection of Facial Hypotonia and Diagnosis of Facioscapulohumeral Dystrophy—Reply
Carol L. Shields, MD;
Jonathan Zahler, DO;
Jerry A. Shields, MD
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In reply
We appreciate the comments by Drs Sheth and Shapiro and their points on the importance of facial hypotonia in fascioscapulohumeral dystrophy. Indeed, our patient showed features of facial hypotonia with a flat, expressionless appearance and a sagging in her lower lip.1 At initial examination, we were concerned about this appearance and related systemic problems, particularly muscular dystrophy. However, systemic examination by geneticists and specialists, including a battery of genetic tests and even a muscle biopsy, was unrevealing. We agree with Drs Sheth and Shapiro that, in retrospect, the facial hypotonia was truly striking, now that the diagnosis has been established. In our case, persistence in seeking a diagnosis with second neuromuscular consultation eventually led to the correct clinical diagnosis of fascioscapulohumeral dystrophy. This was confirmed by genetic testing, which showed a 4q35 deletion.
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Correspondence: Dr C. L. . . . [Full Text of this Article]
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