Atypical Facio-Scapulo-Humeral Dystrophy with facial sparing: a case report

Abstract

Facio-Scapulo-Humeral Dystrophy (FSHD) is an autosomal dominant and third most common inherited muscular dystrophy. Typical phenotype of FSHD initially affects the muscles of the face and upper arm. Atypical FSHD refers to genetically confirmed FSHD with phenotypic variations. Scapulo-Humeral Dystrophy (SHD) is the most common atypical form of FSDH characterized by no facial muscle weakness on clinical examination, while other signs remain consistent with FSHD. We report a 31-year-old male who presented with foot drop and had an unexpected presentation as SHD. Provisional diagnosis of SHD was based on careful medical history, physical examination findings, modest rise in muscle enzymes, and needle electromyography findings of myopathy. Muscle biopsy suggested dystrophic changes which supported the diagnosis of FSHD with facial sparing. Rehabilitation plan included patient and family counseling/education, lifestyle modifications, energy conservation strategies, right ankle foot orthosis, and therapeutic exercises with regular follow-up for monitoring of the disease.