Download Duchene Muscular Dystrophy (DMD)

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Duchene Muscular Dystrophy (DMD) “at a glance” sheet
 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
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
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.
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
Version 1: February, 2015. Due for review: February, 2016. Info Sheet no: 09