Duchenne muscular dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is a rare, X-linked, progressive neuromuscular disorder caused by mutations in the DMD gene leading to an absence of functional dystrophin protein, which is essential for muscle structure, function, and preservation.^1–11 DMD is a multisystem disease that affects skeletal, pulmonary, and cardiac muscles as well as the brain and gastrointestinal tract, and individuals with DMD typically exhibit progressive muscle weakness followed by loss of ambulation, often succumbing to life-threatening complications due to respiratory or cardiac failure.^12–19

Discover more about DMD below.

DMD Disease Background

These modules provide a comprehensive overview of DMD presentation, diagnosis, and management.

DMD modules summary

A one-page summary of the DMD disease background modules.

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Module 1: What is DMD?

An overview of DMD and the role of dystrophin.

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Module 2: How is DMD diagnosed?

Screening and diagnostic pathway for DMD.

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Module 3: How is motor function affected in DMD?

Early signs, biomarkers and clinical tests to assess loss of motor function.

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Module 4: How does DMD progress over time?

Predictors of disease progression, and disease impact on cardiopulmonary and central nervous system function.

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Module 5: What is the impact of DMD?

Socio-economic and quality of life impact of the disease.

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Module 6: How is DMD managed?

Treatment goals and strategies, and role of the multidisciplinary team.

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Interactive digital resources

Motor function assessments in DMD

An interactive digital resource focused on key motor function assessments used in DMD.

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Understanding dystrophin in DMD

An interactive digital resource exploring how mutations in the DMD gene impact the structure and function of dystrophin protein, and the disease phenotype.

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SV95C: A real-world measure of mobility for neuromuscular diseases

These resources provide more information on the Stride Velocity 95th Centile (SV95C) mobility test, a digital endpoint of ambulatory performance in patients’ normal daily environment.

SV95C module
Overview of SV95C and its use in clinical trials.

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References:

1. Broomfield J, et al. Neurology. 2021;97(23):e2304–e2314; 2. Emery AE. Neuromuscul Disord. 1991;1(1):19–29; 3. Koenig M, et al. Cell. 1987;50(3):509–517; 4. Marden FA, et al. Skeletal Radiol. 2005;34(3):140–148; 5. Mayer OH, et al. Pediatr Pulmonol. 2015;50(5):487–494; 6. Muntoni F, et al. PLoS One. 2019;14(9):e0221097; 7. Claflin DR, Brooks SV. Am J Physiol Cell Physiol. 2008;294(2):C651–C658; 8. Ervasti JM, Campbell KP. J Cell Biol. 1993;122(4):809–823; 9. Hoffman EP, et al. Cell. 1987;51(6):919–928; 10. de Feraudy Y, et al. Ann Neurol. 2021;89(2):280–292; 11. Ohlendieck K, et al. Neurology. 1993;43(4):795–800; 12. Brooke MH, et al. Neurology. 1989;39(4):475–481; 13. McDonald CM, et al. Am J Phys Med Rehabil. 1995;74(5):S70–S92; 14. Lionarons JM, et al. Life (Basel). 2021;11(8):772; 15. MacLeod M, et al. Arch Dis Child. 2003;88(4):347–349; 16. Sayed MM, et al. Middle East Current Psychiatry. 2022;29(1):76; 17. Taylor PJ, et al. PLoS One. 2010;5(1):e8803; 18. Bello L, et al. Neurology. 2016;87(4):401–409; 19. Mendell JR, et al. J Neuromuscul Dis. 2021;8(4):469–479.

Duchenne muscular dystrophy (DMD)

DMD modules summary

Module 1: What is DMD?

Module 2: How is DMD diagnosed?

Module 3: How is motor function affected in DMD?

Module 4: How does DMD progress over time?

Module 5: What is the impact of DMD?

Module 6: How is DMD managed?

Motor function assessments in DMD

Understanding dystrophin in DMD

SV95C: A real-world measure of mobility for neuromuscular diseases

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