Muscular Dystrophies

Duchenne Muscular Dystrophy (DMD)

DMD is one of more than 20 types of muscular dystrophy. All the muscular dystrophies are caused by faults in genes and they cause progressive muscle weakness because muscle cells break down and are gradually lost. The Duchenne type affects only boys (with extremely rare exceptions) and a problem is this gene is known to result in a defect in a single important protein in muscle fibres called dystrophin.

Most affected boys develop the first signs of difficulty in walking at the age of 1 to 3 years and are usually unable to run or jump like their peers, they often struggle to climb stairs and need to use a banister for support. Raising from the floor can also prove difficult. As the condition progresses boys with DMD are unable to walk as far or as fast as other children and may occasionally fall down.

Some boys also have learning and or behavioural difficulties, which my begin to manifest at this stage. By about 8 to 11 years (rarely earlier or a little later) boys become unable to walk and by their late teens or twenties the condition is usually severe enough to shorten life expectancy. About 100 boys with Duchenne muscular dystrophy are born to the United Kingdom each year.

Myotonic Dystrophy

People with myotonic dystrophy, like those with other dystrophies, experience muscle weakness and wasting which is usually progressive. There are many differences, though, in the type of problem that myotonic dystrophy patients may have. The types of muscles involved are usually in the face, jaw and neck area; the large, weight-bearing muscles of the legs and thighs are much less affected. The rate of deterioration is commonly slow, with little change over a long period; some patients never have significant muscle disability. Muscle stiffness or ‘myotonia’ is characteristic, especially affecting the hands.

The involvement of other body systems is frequent; associated problems may include cataracts, disturbance of heart rhythm, hormonal problems and, in children, learning difficulties. Age at onset is very variable and symptoms may appear at any time from birth to old age.

Facioscapulohumeral Dystrophy

This is a muscle wasting condition, caused by a genetic fault, which may be affecting the regulation of the level of many of the different proteins in muscles. The name describes the usual distribution of weakened muscles: facial; shoulder blade and upper arm. It is the third most common muscular dystrophy although its frequency may vary in different places and quite possibly in different racial groups.

Duchenne Muscular Dystrophy is the most common type affecting children, with a prevalence in the UK of 1 in every 770,000 people. Myotonic Muscular Dystrophy is the most common type affecting adults, and its annual incidence in the UK is estimated to be 1 in every 35,700 adults.

Information about the current situation in Glasgow

Summary of ‘An Assessment of Unmet Need and Disability Associated with the Muscular Dystrophies’

Scottish Muscle Network

Muscular Dystrophy Campaign