Elisa CALİSGAN, Oznur TUNCA YİLMAZ, Deniz TUNCEL, Tülin DÜGER

Early adulthood onset of muscle weakness in facioscapulohumeral muscular dystrophy and physical therapy management: An unusual case report

Facioscapulohumeral muscular dystrophy is an uncommon and rarely seen progressive myopathic disorder. It is usually seen during periods of rapid growth (4-5 years). Proximal and distal upper extremities characteristically show weakness and atrophy. Face, scapular, shoulder, leg, hip belt muscles are frequently asymmetrically affected. In this paper, a case is presented of this rare, difficult to diagnose disease, not previously reported in this age group, and the findings are discussed in the light of information of earlier cases in Turkey. A 26-year old female patient presented at Hacettepe University Neurology outpatient clinic with complaints of muscle weakness and atrophy in the left arm and leg, which had been ongoing for 4 years. The muscle weakness of left upper, lower extremities and right limb, further cervical cord atrophy, winging scapulae, abnormal spinal curvature were observed. This case report presents information about the differential diagnosis, detailed symptoms, and physical therapy management of a Fascioscapulohumeral patient.

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Dominic BF. Elderly Onset of Weakness in Facioscapulohumeral Muscular dystrophy. Case Report Neurol Med. 2012.

Tawil R, Van Der Mavanel SM. Facioscapulohumeral muscular dystrophy. Muscle and Nerve. 2006;34:1-15.

Zatz M, Marie SK, Passos-Bueno MR. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Human Gen. 1998;56:99-105.

Padberg GW. Facioscapulohumeral Disease.Thesis, Leiden University, 1982.

Laucis, Nicholas C., Ron D. Hays, and Timothy Bhattacharyya. “Scoring the SF-36 in orthopaedics: a brief guide.” J Bone Jint Surg. 2015;19:1628-34.

Zatz M, Marie SK, Cerqueira A, et al. The facioscapulohumeral muscular dystrophy (FSHD). Gene affects males more severely and more frequently than females. Am J Med Genet. 1988;77:155-61.

van der Kooi EL, Vogels OJ, van Asseldonk RJ, et al. Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology. 2004;63:702–8.

Olsen DB, Orngreen MC, Vissing J. Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. Neurology. 2005;64:1064–6.

Andersen G, Prahm KP, Dahlqvist JR, et al. Aerobic training and postexercise protein in facioscapulohumeral muscular dystroph. Neurology. 2015;85:396403.