Our Sunshine Sophie.

"Congenital Muscular Dystrophies are an heterogenous group of disorders which show at birth or within the first six months of life. Babies with merosin-deficient congenital muscular dystrophy often have hypotonia (decreased muscle tone, floppiness), and may have reduced movements and contractures (tightness) in the hips, knees and elbows. Sometimes the first signs are only noted after a few months when the children have difficulties in holding their head or have a delay in learning new skills such as sitting unaided, crawling or walking.

The diagnosis of merosin-deficient congenital muscular dystrophy is usually suspected from the history and examination. The specific diagnosis however is generally made by looking at a piece of muscle (muscle biopsy). Before doing a muscle biopsy (which involves taking out a small piece of muscle, usually from the thigh) a few other tests may be done. One of these tests is a blood test, which measures the level of a muscle enzyme (creatine kinase or CK) that is generally very raised (more than 10 times the normal values).

The severity of this condition varies. Children in whom merosin is completely absent or is only present in very small traces generally never achieve walking without support. Some of them may be able to stand or to walk using assistance such as long leg callipers.
Some children might have a partial reduction of merosin and a proportion of these are milder and may learn to walk although this may be delayed. Children who have successfully walked may lose the ability later on because as they grow older and heavier, the muscles are unable to cope with a greater strain. 


A very common problem in patients with MDC1A is weakness of the respiratory muscles, giving rise to frequent chest infections and hypoventilation (poor breathing) at night. Both are potentially serious complications that need to be promptly recognised and acted upon. It is therefore very important to monitor respiratory function during the night by checking oxygen levels on a regular basis, usually once a year. This test is very simple and consists of applying a small wrapping around one finger. The wrapping is connected to a small machine recording the level of oxygen throughout the night. Night-time breathing problems may happen in children of any age and when present, children feel tired, often have headaches in the morning, soon after they wake up, may feel sleepy during the day and lose some weight. If these signs are present or if the level of oxygen recorded at night are not satisfactory, children can be helped by referring them to a respiratory physician who will provide a mean of supporting breathing at night (ventilator). This usually requires a special facial or nasal mask attached to a small machine that pumps air when it is needed.

Another frequent problem after the first few years is failure to thrive and it is therefore also important to monitor weight and height to be sure that these children receive enough food and energy. Very often there are also problems in swallowing as the muscles which are responsible for swallowing are weak. In several cases feeding supplements are needed. Sometimes a small surgical procedure called gastrostomy can be performed to help the child to receive the appropriate level of feeding via a tube directly into the stomach and maintain his/her weight.

At present there is no cures or treatment."

Information from Muscular Dystrophy Campaign.