Duchenne Muscular Dystrophy

General Medical Guideline
Last modified
5 June 2020

DMD is characterized by progressive and severe muscle deterioration resulting from a lack of dystrophin, which provides structural stability to the muscle cell membrane.

The DMD Care Considerations Working Group evaluated assessments and interventions used in the management of diagnostics, gastroenterology and nutrition, rehabilitation, and neuromuscular, psychosocial, cardiovascular, respiratory, orthopaedic, and surgical aspects of DMD. Published in two parts. Part 1 in summary (2010, K Bushby):. 

Early features can be a positive family history or general developmental delay. More specific for DMD are an elevated creatine-kinase  (10–100 times the normal level since birth) or discovery of increased transaminases (aspartate aminotransferase and alanine aminotransferase, which are produced by muscle as well as liver cells). Initial symptoms might include delayed walking, frequent falls, a waddling gait or difficulty with running and climbing stairs. The presence of Gowers’ sign in a male child should trigger the diagnostic investigation of DMD. Although DMD is diagnosed at around 5 years of age, the diagnosis might be suspected much earlier because of delays in attainment of developmental milestones, such as independent walking or language. Testing for a DMD mutation in a blood sample is recommended. The results of genetic testing provide the clinical information required for genetic counselling, prenatal diagnosis, and consideration for future mutation-specific therapies. 

Neuromuscular and skeletal assessments in DMD includes taking a standard medical and family history and undertaking a physical examination, with a focus on the musculoskeletal system and related functional impairments. See the guideline (2010, K Bushby)

Pharmacological intervention has begun to change the natural history of DMD, and further advances and more effective treatment of the underlying pathology of DMD should continue to offer an improved course, potentially including small-molecule and gene therapies. Glucocorticoids (such as Prednisone or  Deflazacort) are the only medication currently available that slows the decline in muscle strength and function in DMD, which in turn reduces the risk of scoliosis and stabilizes pulmonary function. (2010, K Bushby).

Psychosocial management  The medical care of a patient who has DMD and his family is not complete without support for their psychosocial wellbeing.  (2010, K Bushby)  

Rare Condition

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is an inherited, X-linked disease that affects about 1 in 3500 - 6000 males. DMD occurs as a result of a change...

ATC

H02AB07 prednisone

H02AB13 deflazacort

LOINC

2157-6 Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

1920-8 Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

1742-6 Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

More info
https://www.thelancet.com/action/showPdf?pii=S1474-4422%2809%2970271-6