GP information for patients knowledge
How serious is DMD and what are the symptoms?
It is a very serious condition. In most of the cases, the first signs of difficulty in body movements such as walking are developed at the age of 1 to 3 years in affected boys. Patients are usually unable to run or jump and often have difficulties climbing stairs and rising from floor.
The disease progresses with the age of boys. As a result of this progress, affected boys are unable to walk or run as fast as their peers and may occasionally fall down. By the age of about 8 to 11, patients become completely unable to walk and by their twenties (or a little earlier/later) the severity of condition is so high that results in shortening of life expectancy.
Learning and/or behavioural complications are other symptoms that can be seen in some boys.
However, there are many forms of management which are available to the patients and can help to reduce difficulties of the condition and in most cases have changed the consequences of the disease like lengthening life expectancy.
What are the symptoms of BMD?
Symptoms are usually very moderate in childhood. Normally, the only problem at first is cramps on exercise but a small number of affected boys are very slow in learning to walk.
The child may be diagnosed with BMD in early childhood or well into adult life. The average age at diagnosis in BMD is 11 years but the range is very wide.
BMD affected individuals are not very athletic in childhood, and usually struggle with school sport.
As the child grows, in the early twenties, muscle weakness results in having difficulty in rapid walking, running and climbing stairs.
In some rare cases, affected men will lose their ability to walk in their 40s or 50s (or even later).
As the years go by, muscles become weak and fragile, especially certain muscles of the shoulders, upper arms and thighs, while others that are less weak are often enlarged e.g. calf muscles.
It is important to understand that not all of the body muscles are affected by muscular dystrophy. For example, facial muscles, speech, swallowing and the involuntary muscles like bowel and bladder muscles are not affected in Becker form of muscular dystrophy.The picture below shows the muscles affected by different types of muscular dystrophy.
Main areas of muscle weakness in different types of muscular dystrophy
Taken from: https://www.bissy.scot.nhs.uk/master_code/pilsinl/249.gif
BMD affected patients require to keep in touch with a specialist clinic on a regular basis. One of the main reasons to do this is that some BMD affected people may have heart problems which in turn results in breathing muscles problem in the long-term. The key point is that, these problems do not cause any symptoms, and hence, they need to be watched out which can often be treated.
What is the treatment?
Sadly, no cure has been discovered yet. However, there are ways to manage the condition, which can be provided to the affected boys in order to help and reduce the disorders problems and difficulties. Managing the disorder can have crucial influences on the quality and length of life that can be expected in the people who have the disorder.
Hence, there are treatments which can help to restrict the effects of the muscular dystrophy, but there are no certain cure known which can be used to treat the actual loss of muscle cells.
At the moment, there is intensive research proceeding around the world to try to find a way to stimulate muscles to build up dystrophin proteins.
You can get more information on progress in this area in the Muscular Dystrophy Campaign magazine, “Target MD”, and on the www.muscular-dystrophy.org website.
How early can it be diagnosed?
Once the disorder is found to affect one male in a family, simple blood tests can be performed in order to identify it in any other boys at risk from birth onwards.
What medical help will the person who have the disorder need now?
Not very much medical help can be done in the early days after diagnosis. The best help that a doctor can offer at this stage is to provide you, as parents, any information that you need to learn about this disorder and also to provide or arrange genetic counselling. A continuous discussion and help can also be arranged with a medical doctor or a genetic counsellor.
Physiotherapists can also provide help by supervising active exercise of the patient.
Active exercise causes strengthening of normal muscle fibres (considering the fact that great majority of muscle fibres are normal in the early years of Becker muscular dystrophy). Regular daily exercise helps to keep as fit and active as possible.
People with BMD usually suffer from cramps during exercise often especially as a teenager. Although, there is not yet an appropriately tested treatment for cramps, it may be worth practising with ‘night splints’ (plastic splints) which maintains a gentle stretch of the calf muscles overnight. Wheelchair can be used in later stages especially for getting about independently over long distances.
What medical help will he need later?
As the years go by, monitoring the patient regularly by a clinic used to dealing with this condition will become crucial. This continuous supervision allows demonstrating the type of problems that can develop and prevent or manage them appropriately.
In the early staged, the mobility problems and shortening of muscles (contractures) that may develop in future are monitored and hence can be managed appropriately in the later stages. Physiotherapy is one of the best ways of monitoring these conditions regularly.
During the process of managing the condition, the main focus will be on managing any spinal curvature and surveillance of heart and breathing muscles. Identifying the problems in any of such areas means that they can be managed more efficiently, lowering the long-term effects.
Over the last few years, management of heart and breathing problem has progressed significantly and this progress is growing continuously.
You can also download the following related factsheets:
. Manifesting carriers of DMD
. DMD – the older child