Clinico-pathological diagnosis of Facioscapulohumeral Dystrophy in a 22-year-old Male
Abstract
Background: Facioscapulohumeral dystrophy (FSHD) is a rare hereditary disease with
a prevalence of 2.03–6.8 per 100,000 individuals. FSHD is the third most common type
of muscular dystrophy after the Duchene muscular dystrophy and myotonic dystrophy.
To the best of our knowledge, the current case report is the first to report probable
FSHD case mainly diagnosed using clinico-pathological evidence from sub-Saharan
Africa (SSA).
Case Report: A 22-year-old right-handed male college student presented with
progressive proximal muscular weakness associated with wasting. The weakness
started from the bilateral facial muscles and progressively involved proximal upper and
lower limbs muscles associated with scapular winging, waddling gait, and bilateral foot
drops. His bulbar, sensory, autonomic, and cognitive systems were spared. Muscles
EMG showed myopathic patterns and normal serum CK. Muscle biopsy from affected
muscles showed variation in fiber size with groups of angular fibers, preserved fibers,
and hypertrophic fibers with marked fibrosis and adipose tissue replacement with no
apparent inflammation and necrosis which is consistent with pathological features
of muscular dystrophy. Considering the clinical semiology, physical findings, EMG
findings, and pathological findings diagnosis of FSHD of scapuloperoneal variant
was made. The patient was managed with analgesics, nutritional advice, and ankle
prosthesis for foot drops. Currently, the patient is in a similar condition with modest
improvement in his musculoskeletal pain complaints.
Conclusion: This case highlights the fact that a careful clinical evaluation with thorough
utilization of diagnostic investigations available at our disposal may support the
diagnosis of FSHD in resource-limited areas where the necessary genetic tests were
not available.
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