Bailey-Bloch myopathy: a case report in a non-Native American patient
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Abstract
Background: STAC3 disorder is a congenital myopathy with musculoskeletal involvement of the trunk and extremities, difficulty feeding, and delayed milestones in motor development, with normal cognition. They are at high risk of susceptibility to malignant hyperthermia and restrictive pulmonary abnormalities. Originally, this pathology was described in individuals of the Native American Lumbee tribe, a mixture of Cheraw Indian, English and African-American descent, in the state of North Carolina, however, cases have already been described worldwide, although the exact epidemiology is not clear.
Case summary: A case of a Colombian pediatric patient with Bailey-Bloch myopathy is reported.
Conclusion: Given the rarity of Bailey-Bloch myopathy, accurate diagnosis and expanded genetic testing are essential for optimizing clinical management and family genetic counseling.
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