Clinico-pathological Diagnosis of Facioscapulohumeral Dystrophy in a 22-year-old Male


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.

Keywords: facioscapulohumeral muscular dystrophy, dystrophy, clinico-pathology, sub-Saharan Africa

[1] Padberg G, editor. MD Thesis University of Leiden. 1982. Facioscapulohumeral disease ISBN 9070176718.
[2] Petrov, A., Laoudj, D., and Vassetzky, Y. (2003). Genetics and epigenetics of progressive fascioscapulohumeral (Landouzy-Dejerine) muscular dystrophy. Russian Journal of Genetics vol. 39, pp. 147–51.
[3] DeSimone, A. M., Pakula, A., Lek, A., et al. (2017). Facioscapulohumeral muscular dystrophy. Comprehensive Physiology, vol. 7, no. 4, pp. 1229–1279.
[4] Tawil, R., Kissel, J. T., Heatwole, C., et al. (2015). Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Neurology, vol. 85, no. 4, pp. 357–364.
[5] Hamel, J. and Tawil, R. (2018). Facioscapulohumeral muscular dystrophy: update on pathogenesis and future treatments. Neurotherapeutics, vol. 15, no. 4, pp. 863–871.
[6] Engel, W. K. (2015). Diagnostic histochemistry and clinical-pathological testings as molecular pathways to pathogenesis and treatment of the ageing neuromuscular system: a personal view. Biochimica et Biophysica Acta - Molecular Basis of Disease, vol. 1852, no. 4, pp. 563–584. Retrieved from:
[7] Padberg, G. W., Lunt, P. W., Koch, M., et al. (1991). Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscular Disorders, vol. 1, no. 4, pp. 231–234.
[8] Rabi Tawil, John T. Kissel, Chad Heatwole et al (2015). Evidence-based guideline summary:
Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Neurology: vol. 85
[9] Diniz, G. (2016). The Histopathological Features of Muscular Dystrophies, pp. 1–18. SMGroup.
[10] Pasotti, S., Magnani, B., Longa, E., et al. (2014). An integrated approach in a case of facioscapulohumeral dystrophy. BMC Musculoskeletal Disorders, vol. 15, pp. 1–6.
[11] Lu, J., Yao, Z., Yang, Y., et al. (2019). Management strategies in facioscapulohumeral muscular dystrophy. Intractable & Rare Diseases Research, vol. 8, no. 1, pp. 9–13.
[12] NIH. Genetics Home Reference Your Guide to Understanding Genetic Conditions. Retrieved from:
[13] Lamperti, C., Fabbri, G., Vercelli, L., et al. (2010). A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: the FSHD clinical score. Muscle and Nerve, vol. 42, no. 2, pp. 213–217.
[14] Ramos, V. F. M. L. and Thaisetthawatkul, P. (2012). A case of fascioscapulohumeral muscular dystrophy misdiagnosed as Becker’s muscular dystrophy for 20 years. Age and Ageing, vol. 41, no. 2, pp. 273–274.
[15] Heller, S. A., Shih, R., Kang, P. B., et al. (2020). Emery-Dreifuss muscular dystrophy. Muscle and Nerve, vol. 61, no.4, pp. 436–448.