Abstract
A 46-year-old teacher presented with slowly progressive weakness of facial, proximal upper limb and distal lower limbs muscles since her late 20s. Her brother and father had similar symptoms. Examination revealed scapular winging, asymmetrical weakness of shoulder abduction, weakness of hip flexion and bilateral foot drop. Sensory testing was normal. CK levels were raised at 400–500 IU/L. ECG and EMG at presentation were normal. Molecular genetic testing was consistent with a contraction mutation of the D4Z4 repeat sequence at 4q35, consistent with the diagnosis of facioscapulohumeral muscular dystrophy. The same genetic abnormality was found in the patient’s brother and father.
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Reference
Tawil R, van der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006;34:1–15.
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Horga, A., Parton, M.J. (2017). “Back to the Basics”-Never Forget to Look at the Back. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_46
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_46
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