The Boy Who Lost His Smile: Facioscapulohumeral Dystrophy in the Head and Neck

Abstract

Background: Facioscapulohumeral dystrophy is the third most common muscular dystrophy and the one most likely to present primarily in the head and neck. Methods: In this report, we present a case of a young child with subtle progressive bilateral facial weakness whose workup ultimately led to this diagnosis. Paralysis in this disorder is secondary to worsening muscle atrophy, which typically progresses in a cephalad to caudad direction. Despite facial paralysis being a key and early component of this illness, no prior descriptions in the otolaryngology literature exist. Discussion: The case described is unusual in that the patient initially presented to a community otolaryngologist. In addition to workup, the disease characteristics, head and neck manifestations, and prognosis are discussed.