What is muscular dystrophy?

The muscular dystrophies are a group of neuromuscular disorders characterised by progressive muscle degeneration and weakness.1 They are caused by mutations in genes that produce either dysfunctional, or insufficient levels of, proteins that are essential for muscle cell stability.1 Children with muscular dystrophy experience progressive muscle deterioration and an ongoing decline in physical function.1

There are different forms of muscular dystrophy2

The muscular dystrophies differ in age of onset, severity, pattern of inheritance, and the muscle groups and other organs affected.1

Duchenne is the most common and severe form of muscular dystrophy among children, and accounts for >50% of all cases. It primarily affects males.

Becker is less common and severe than Duchenne but presents with similar symptoms.

Myotonic is the most common adult form of muscular dystrophy.

Congenital muscular dystrophy appears at birth or by age 2.

Emery-Dreifuss primarily affects boys, with symptoms usually apparent by age 10.

Facioscapulohumeral (FSHD)2
FSHD refers to the areas affected – the face (facio), shoulders (scapulo) and upper arms (humeral). It typically affects adolescents.

Limb girdle2
Most often appears in adolescence or young adulthood. Affects both males and females.

Distal muscular dystrophy is less severe and progresses more slowly than other forms of muscular dystrophy. It typically appears at 40–60 years of age.

Oculopharyngeal muscular dystrophy occurs in both men and women, typically in a person’s 40s or 50s. It can be mild or severe.

Learn how to recognise neuromuscular disorders, click here to access the RCPCH e-learning module.

1. Theadom A, et al. Neuroepidemiology. 2014;43:259–268.
2. National Institutes of Health. What are the types of muscular dystrophy? Available at: https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/types [last accessed November 2020].
3. Andrews JG, et al. Adolesc Health Med Ther. 2018;9:53–63.

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