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DECEMBER 2022 InTouch | 9 however, to control complications by adhering to a management programme specially designed by a team of medical professionals. This team may include occupational therapists, physicians, orthopaedic surgeons, physical therapists, orthotists, dietitians, nurses, genetic counsellors, and psychologists. Many other people are there to give advice and help in any way possible, such as social workers, teachers, religious advisers, staff from the MDA, parents, and other persons with FSHD. Exercise Several studies have shown that aerobic exercise does not cause worsening of FSHD and should be recommended. Moderate exercise, especially swimming, is generally considered to be beneficial in FSHD, maintaining both muscle strength and flexibility without undue strain. Weight or resistance training should ideally be limited to fewer repetitions and light weights so as not to cause injury to joints that may not be well supported due to weakness of the supporting muscles. Supportive Equipment Ankle-foot orthoses help to keep the ankle joint in a normal position and are helpful in preventing falls and improving overall walking ability in people with foot drop. Ankle-knee-foot orthoses may be beneficial to those with additional weakness in the thigh. Shoulder bracing may help to provide temporary pain relief, though is not likely to improve shoulder function. In those individuals with more severe weakness, a wheelchair may be necessary. Other types of supportive equipment are available as the individual need arises. Advice concerning these would typically be offered by a physiotherapist, occupational therapist, or by the MDA. Medical Treatment Anti-inflammatory drugs may be prescribed to reduce associated muscle inflammation. Other medications that fall within the antidepressant or antiepileptic categories can also be used for chronic musculoskeletal pain associated with FSHD. Nutrition Excessive weight gain leading to obesity can occur due to reduced physical activity produced by muscle weakness. As excess weight can contribute to fatigue and weakness, it is important to maintain a well- balanced diet incorporating plenty of fresh fruit and vegetables while limiting overly processed foods. Surgery Stabilizing the shoulder blades is one of the more common surgical procedures undertaken by individuals with FSHD. The winged scapulae are fixed to the ribs so they don’t move around. Although the surgery may decrease the arm’s range of motion (since the shoulder blade can no longer rotate normally), the ability of the arm to function may be better as the arm’s leverage point is now stable. Surgery on the eyelids may be beneficial when there is weakness of eye closure. Incomplete closure of the lids may cause inflammation of the cornea (keratitis), so it is important not to ignore the early signs of waking up with dry and irritated eyes. While surgery may produce significant benefits, these must be balanced against potential complications. Postoperative immobilisation can cause further muscle wasting, and extensive physiotherapy will be required after some surgeries. What does the future hold for FSHD? Recent advances in FSHD research led to the discovery of the DUX4 protein’s role in the pathophysiology of FSHD. This now gives researchers a target for developing therapies for FSHD. The DUX4 protein is produced by a gene of the same name which is normally silenced in somatic cells (all tissues in the body other than reproductive tissues). When the DUX4 gene is inappropriately expressed, the DUX4 protein is produced, and this protein is toxic to skeletal muscle. Research scientists worldwide are looking at ways to use gene therapies to “turn off” the DUX4 gene or to otherwise interfere with its production of DUX4. This is an exciting field in neuromuscular medicine and genetics and there is much optimism that we will soon have an effective therapy for FSHD. Support Support is available from the MDA who can offer specialist assessment, information, support, advocacy and referrals to other providers. There is also a nationwide Support Network for those interested in meeting with others. Further Information Muscular Dystrophy Association can be contacted for further information, assistance, advice, support, and referrals, at 0800 088 337 or by e-mail at info@mda.org.nz More information specific to FSHD including research updates and involvement in communities can be found on the FSHD Society website www.fshdsociety.org FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD)