management

Last edited 04/2022 and last reviewed 02/2023

Cardiac and respiratory complications are seen, especially with disease progression, and if untreated DMD typically leads to death in the late teens

• although currently incurable, the natural history of DMD has been improved by targeted interventions addressing known disease complications
• multidisciplinary care, particularly the initiation of corticosteroids and assisted ventilation supported by regular cardiac and respiratory monitoring, has led to increasing numbers of patients living into adulthood

Management is aimed at maintaining mobility for as long as possible. This includes the use of calipers, wheelchair and adaptation of the home environment. Stretching and low impact sports are recommended by doctors and encouraged by parents to keep the boys active and flexible.

Steroids have been demonstrated to be efficacious in slowing the progression of DMD and in delaying the loss of independent ambulation (1,3,4,5)

• evidence shows that corticosteroids improve muscle function and help prolong ambulation, delay the development of respiratory complications, postpone or avoid orthopaedic complications, and might delay cardiac complications (4)
• study evidence has shown that (6):
  • among patients with Duchenne muscular dystrophy, treatment with daily prednisone or daily deflazacort, compared with intermittent prednisone alternating 10 days on and 10 days off, resulted in significant improvement over 3 years in a composite outcome comprising measures of motor function, pulmonary function, and satisfaction with treatment

Prophylactic ace inhibitor (ACEI) treatment in DMD (7)

• there is evidence that prophylactic ACEI treatment is associated with a significantly higher overall survival and lower rates of hospitalization for heart failure

Surgery may be indicated to prevent disability and includes ankle, knee, or hip tendon release. The tendons are surgically cut to prevent disabling contractures. In older boys who use a wheelchair for mobility, spinal fusion may be performed to prevent scoliosis (curvature of the spine) (2).

Learning difficulties and behavioural issues need expert support.

Genetic counselling is of paramount importance.

Reference:

1. Yilmaz O et al. Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis. Eur J Neurol. 2004 Aug;11(8):541-4.
2. Webb CL. Parents' perspectives on coping with Duchenne muscular dystrophy. Child Care Health Dev. 2005 Jul;31(4):385-96.
3. Rodger S et al. Adult care for Duchenne muscular dystrophy in the UK. J Neurol. 2015; 262(3): 629–6
4. Fox H et al. Duchenne muscular dystrophy. BMJ 2020;368:l7012
5. Lisak RP, Truong DD, Carroll W, Bhidayasiri R (2011). International Neurology. Wiley. p. 222. ISBN 9781444317015.
6. Guglieri M, Bushby K, McDermott MP, et al. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA. Published online April 05, 2022. doi:10.1001/jama.2022.4315
7. Porcher R et al. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy- analysis of registry data. European Heart Journal March 2021, ehab054, https://doi.org/10.1093/eurheartj/ehab054