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MUSCULAR DISTROPHY
Muscular dystrophies are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time.
The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other organs. Over 30 different disorders are classified as muscular dystrophies. Of those, Duchenne muscular dystrophy accounts for approximately 50% of cases and affects males beginning around the age of four. Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, whereas limb–girdle muscular dystrophy and congenital muscular dystrophy are themselves groups of several – usually extremely rare – genetic disorders. Muscular dystrophies are caused by mutations in genes, usually those involved in making muscle proteins.

There are several types of muscular dystrophy, with Duchenne Muscular Dystrophy (DMD) being the most common form diagnosed in children. DMD typically manifests between the ages of 2 and 6, primarily affecting boys, leading to significant muscle degeneration and loss of mobility over time. Other forms, such as Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, and Myotonic Dystrophy, exhibit a range of symptoms and age of onset.

Diagnosis of muscular dystrophy often involves a combination of physical examinations, genetic testing, and muscle biopsy to determine the specific type of MD present. Early diagnosis is crucial, as it can lead to proactive interventions that may enhance the quality of life for affected individuals.

While there is currently no cure for muscular dystrophy, treatment strategies aim to slow the progression of the disease and alleviate symptoms. In the UK, multidisciplinary care teams—including physiotherapists, occupational therapists, and neurologists—work collaboratively to provide tailored care. Treatments may include corticosteroids to reduce inflammation, physical therapies to improve mobility, and assistive devices to aid independence.

Various organizations in the UK, such as Muscular Dystrophy UK and the Duchenne Family Support Group, provide invaluable resources, advocacy, and support for patients and their families. These organizations focus on promoting research to find effective treatments and improve care standards, while also raising awareness to build a supportive community.