Muscular Dystrophy

What is Muscular Dystrophy?

Muscular dystrophy (MD) is not one condition but a group of more than 30 related genetic diseases that cause progressive loss of muscle mass and weakness. Each type is caused by mutations in different genes responsible for producing proteins that protect and maintain muscle cells. Without these proteins, muscles gradually degenerate and weaken.

Major types include:

• Duchenne MD (DMD) — the most common and severe; caused by mutations in the dystrophin gene; affects primarily boys (X-linked recessive); onset in early childhood; most people with DMD require a wheelchair by early adolescence; respiratory and cardiac involvement lead to life-limiting complications
• Becker MD (BMD) — also caused by dystrophin gene mutations but less severe; later onset; slower progression than DMD; some people walk into adulthood
• Limb-Girdle MD (LGMD) — a diverse group affecting the muscles of the hips and shoulders; onset and severity vary widely
• Myotonic Dystrophy — the most common adult-onset MD; characterised by muscle weakness and difficulty relaxing muscles after contraction (myotonia); also affects the heart, eyes, and endocrine system
• Facioscapulohumeral MD (FSHD) — affects muscles of the face, shoulder blades, and upper arms; progression is highly variable; some people are minimally affected

How It Presents

Progressive muscle weakness is the hallmark of all MD types. Depending on the type:

• Childhood-onset forms (especially DMD) present with delays in motor development, frequent falls, difficulty running, and a characteristic way of rising from the floor (Gowers' sign)
• Cardiac involvement is present in many forms; cardiomyopathy (heart muscle disease) can be life-limiting
• Respiratory muscle weakness in DMD and other types eventually requires ventilatory support (non-invasive ventilation, tracheostomy)
• Scoliosis (spinal curvature) is common as trunk muscles weaken
• Swallowing difficulties can develop in later stages
• Cognitive differences are more common in DMD than in other forms; some boys with DMD have learning disabilities or ADHD

Assistive Technology

• Power wheelchairs — essential for most people with DMD; require adaptations as upper limb function declines (head arrays, breath control, eye gaze)
• Non-invasive ventilation — BiPAP/CPAP for respiratory support; dramatically extends life expectancy in DMD
• Cough assist devices — mechanical insufflation-exsufflation devices to clear secretions when respiratory muscles are weak
• Switch access and alternative input — as hand function declines, alternative computer control methods are needed
• AAC — for those who develop speech or swallowing difficulties
• Environmental control systems — smart-home access for people with very limited mobility
• Adaptive seating and positioning — custom wheelchair seating to manage posture and prevent pressure injuries
• Standing frames and orthotics — used in some programmes to support bone density and positioning

Common Misconceptions

• "All muscular dystrophy is the same." There are more than 30 types with very different causes, presentations, ages of onset, and life expectancies.
• "Muscular dystrophy only affects males." While DMD predominantly affects males, many MD types (including LGMD and myotonic dystrophy) affect both sexes equally.
• "People with MD do not have full cognitive abilities." Most MD types do not affect cognition. Cognitive and learning differences in DMD are present in some but not all individuals.

Language and Identity

Person-first language ("person with muscular dystrophy") is most common, though individual preferences vary. The muscular dystrophy community has strong advocacy organisations (Muscular Dystrophy Association, Muscular Dystrophy UK) and growing patient advocacy voices, particularly from adults with slower-progressing forms. Many in the community identify with the broader disability rights movement.