The Diagnosis & Management of DMD

The Diagnosis & Management of DMD
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  • Kate Bushby
    Kate Bushby
    Prof. Kate Bushby MD FRCP is a Professor of Neuromuscular Genetics. She is a...
  • Original Article

Academic article

It is recognised that receiving the best care can dramatically improve the quality of life and life expectancy of individuals with DMD, enabling them to lead fulfilling, independent lives into adulthood. The importance of care recommendations such as these therefore cannot be underestimated. The international guidelines, which cover the diagnostics, cardiovascular, neuromuscular, gastroenterology/nutrition, orthopaedic/surgical, psychosocial, rehabilitation and respiratory fields, can be used by doctors, patients and families worldwide as a guide to the treatment that individuals with Duchenne should receive at each stage of the disease. They are also a valuable tool for lobbying at a national level to enable incorporation of these recommendations into national health systems. The guidelines represent real international consensus including both the medical and the patient advocacy perspectives and can be used across the world as a powerful tool to recognize those centres where best practice is already in place and to identify gaps in care.

Updated in 2018!

We are delighted to announce that a significant update to the 2010 publications, ‘Diagnosis and management of Duchenne muscular dystrophy’ parts 1 and 2 have now been published in The Lancet Neurology.

A multidisciplinary committee of experts was established in 2014 with the task of updating the care considerations from 2010 in order to benefit patient care. The new care considerations address the needs of patients with prolonged survival, offer guidance on assessments and interventions, and consider the implications of emerging therapies for Duchenne Muscular Dystrophy (DMD).

The committee identified three new topics to be addressed in addition to the eight from 2010. These are primary care and emergency management, endocrine management and transition of care across the lifespan. The care considerations are now published online as 3 papers:

Part 1Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Part 2: Respiratory, cardiac, bone health, and orthopaedic management

Part 3: Primary care, emergency management, psychosocial care, and transitions of care across the lifespan

Updated versions of the Family Guides will be available in the coming months.

30 Jan 2018