Congenital muscular dystrophy (CMD)
This is a group of genetic muscle-wasting conditions, in which the symptoms become apparent at an early age (congenital means ‘from birth’).
They cause muscles to weaken and waste over time, leading to increasing disability. They can also cause learning difficulties.
Of the 10,000, people in the UK who have a form of muscular dystrophy, it is thought that about 400 have CMD. The two most common forms of the condition are Ullrich congenital muscular dystrophy, which affects about 50 percent of people with CMD, and merosin-deficient congenital muscular dystrophy, which affects 25 percent.
CMD is caused by genetic mutations which lead to a lack of various proteins vital for healthy muscle structure or function. Mutations in different genes cause different types of CMD.
The severity of CMD varies greatly between different types and between individuals. Some children affected will be able to walk although they may walk later than other children. Some will lose this ability as they become heavier and the strain on their muscles is increased.
Some people may experience breathing problems caused by the weakening of the chest muscles that can be life threatening. It is therefore vital that they receive the right specialist care.
There is currently no treatment available to address the underlying genetic cause of CMD. Muscular Dystrophy UK is currently funding research aiming to understand the underlying genetic cause of CMD. This would help make a precise genetic diagnosis and help predict how fast the symptoms are likely to progress, allowing families to make informed choices for the future.
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