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Treatment of facioscapulohumeral muscular dystrophy with Denosumab

Stanley S. Lefkowitz, Doris L. Lefkowitz, Jeremy Kethley

Am J Case Rep 2012; 13:66-68

DOI: 10.12659/AJCR.882771

Published: 2012-05-16


Background:    Facioscapulohumeral muscular dystrophy (FSHD) is the 3rd most common form of muscular dystrophy. Effective treatments for any of the muscular dystrophies have yet to be realized. This report describes such a treatment.
    Case Report:    A 66 year old female was diagnosed with osteoporosis. She had been diagnosed with FSHD muscular dystrophy a number of years previously by both genetic and clinical studies. Following a 2 year course with Forteo for osteoporosis, she was given an injection of Denosumab (Prolia) to maintain her bone density. By 24 hours, she exhibited increased strength and a dramatic reduction of her dystrophic symptoms e.g. she could walk unassisted in high heels. She was able to accomplish other things that had not been possible for a number of years. After approximately 5 weeks she gradually lost the newfound strength with a complete loss by about 6 weeks. A second injection of Denosumab resulted in the same effect, i.e. reversal of symptoms and increased functionality. A number of measurements and videos were taken to establish the beneficial effects of Prolia for future studies. This was repeated with a 3rd and 4th injection in order to establish the unequivocal beneficial effects on muscular dystrophy.
    Conclusions:    Further studies will be required to establish Denosumab as a major “front line” treatment for this disease and possibly other muscular dystrophies.

Keywords: facioscapulohumeral muscular dystrophy, denosumab, FSHD



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