What is the role of facioscapulohumeral muscular dystrophy in the etiology of congenital facial paralysis?

Updated: Jan 07, 2019
  • Author: Alan D Bruns, MD, FACS; Chief Editor: Arlen D Meyers, MD, MBA  more...
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Answer

FSH MD is an autosomal dominant condition marked by a steadily progressive familial distal myopathy associated with weakness of the face, jaw, neck, and levators of the eyelid. [25] At birth, infants present with facial diplegia; however, lateral gaze is intact (in contrast to Möbius syndrome). Later in childhood, distal progressive myopathy develops. Intelligence and life span are normal and the spectrum of disability is broad. Flaccid dysarthria results from the facial muscle paralysis. A pair of siblings had FSH MD that was accompanied by the unusual finding of sensorineural hearing loss. [26]

A prospective, cross-sectional study by Goselink et al indicated that muscle weakness and systemic features (particularly hearing loss, reduced respiratory function, and spinal deformities) tend to be more severe in patients with early onset facioscapulohumeral muscular dystrophy (FSH MD) than in those with the classic-onset form of the disorder. The study also found that 46% of patients with early onset FSH MD had de novo mutations, compared with 4% of individuals with the classic-onset condition. [27]


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