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Duchene Muscular Dystrophy (DMD) “at a glance” sheet Diagnosis/Genetics X-Linked Recessive Affects production of dystrophin, an essential protein in the muscle cell membrane Diagnosis usually confirmed by genetic testing. Genetic counselling mandatory for affected individual and female relatives at risk of being carriers Clinical features and outlook DMD typically affects males, and causes progressive muscle weakness. Mobility is usually lost in the second decade of life. DMD is a life limiting condition, although with appropriate cardiac and respiratory support young men can live into their fourth decade. Associated features and anaesthetic risk Anaesthesia can present a significant risk and cardio-respiratory review should be considered prior to surgery when possible. There is additional risk of malignant hyperpyrexia like reaction, and sedative analgesia should be prescribed with careful monitoring. Cardiac manifestations DMD is associated with cardiomyopathy. This is screened for biannually in ambulant boys, and annually following loss of mobility. Early treatment for deteriorating cardiac function is recommended Respiratory manifestations Monitoring for deteriorating respiratory function is recommended. Infections should be treated promptly and initiation of non-invasive ventilatory support in place prior to symptoms of respiratory failure. Treatments Steroid therapy is recommended for ambulant boys. Spinal surgery should be considered for progressive scoliosis on loss of ambulation. A range of specialist equipment is available to provide postural support and assist independent living. Patients should carry an Alert bracelet or similar Sources of additional information www.smn.scot.nhs.uk www.muscular-dystrophy.org www.actionduchenne.org www.neuromuscular.wustl.edu/index.html Version 1: February, 2015. Due for review: February, 2016. Info Sheet no: 09