DMD is a genetic disorder which affects boys and can be “carried” by some healthy female relatives.The DMD gene is damaged so an important protein called dystrophin is missing. Young boys appear healthy but the muscles gradually weaken as they grow. The heart and breathing muscles can also be affected when older.
It used to affect only children and teenagers but nowadays, with better management, an increasing proportion of young people enjoy adult life and we should encourage them (from a young age) to achieve their goals in education, employment, independent living, leisure and relationships. The Muscular Dystrophy Campaign (MDC) has booklets written for boys with DMD.
Diagnosis is usually made on a blood test but sometimes a small piece of muscle has to be tested. Female relatives should have the opportunity to see a geneticist and discuss whether they might be at risk of having affected children and whether they would like to have “carrier” blood tests.
Muscles round the ankles, and other joints, may shorten and make walking difficult. A physiotherapist can show you stretching exercises that will help. The joints should be examined for range of movement. Sometimes splints or an operation at the ankles can help.
Boys will start to use a wheelchair before 13 years old, very soon progressing to using a powered wheelchair. It is very important that this is adapted as he grows and if he becomes weaker. A special bed or mattress may also help.
Talking can be late in some younger boys. Muscle weakness may cause problems with feeding and swallowing. Diet is very important and weight should be monitored. To keep bones strong, advice should be taken from a dietician about the amount of calcium and vitamin D in the diet. Occupational, speech and language therapists can help solve feeding difficulties. Speech in adults may be difficult because of weakness of breathing muscles and it is important to be aware the person is not being willfully uncommunicative!
Up to a quarter of patients may break a long bone at some point, often after a minor accident. Thinning of the bones increases the fracture risk and in DMD can be caused by lack of activity, lack of exposure to sunlight, steroid therapy and delayed puberty. See “diet” and “medicines”.
When adolescents with DMD spend a long time sitting, many will develop an “S” shaped twist to the spine and this can restrict breathing. At this time the spine should be examined and X rays taken. If a twist starts, you will be given information about the advantages and disadvantages of an operation to stop the spine twisting further.
In some areas a joint clinic formally hands care on from Children’s to Adult services.
Adolescents and adults should see a respiratory physician. A major development that lengthens and improves quality of life in DMD is the use of a small machine that blows air into the lungs to help breathing at night. The heart muscle may also be affected at this stage and should be checked to see if treatment is necessary. Occasionally the heart can also be affected in younger boys.
When muscle weakness starts, steroids can be used to help strength. Vaccinations and antibiotics can protect from chest infections in wheelchair users. ACE inhibitors and beta blockers can help if the heart muscle is affected. Calcium and vitamin D supplements can help keep bones strong.
All carers need a break! It is useful for a young person to experience being cared for by others as this may make it easier to live independently as an adult. If an adult has always been cared for by parents, it can be very difficult to start having a professional carer. Direct (care) payments allow adults to employ their own carers.
In some areas, Children’s Hospices can offer respite and palliative residential breaks to help young people and their families cope with some of the aspects of living with DMD. For young men over the age of 18, there is a purpose built hospice for 18 to 40 year olds - Douglas House in Oxford. For further details they can be contacted on 01865 794749.
A third of boys may have educational difficulties and require special help. Parents should be aware of the needs of healthy brothers and sisters as sometimes they can feel neglected and may develop behavioural problems.
Most boys will go to the local primary school. While the ideal is for the majority of physically disabled adolescents to be supported and educated at the local secondary school, some may benefit from a school for physically disabled. There are advantages and disadvantages of both and families should be able to choose. Those young people who are able to, should be encouraged to think about further education and employment from a young age. This can greatly increase self esteem and well being. The MDC has very useful educational guidelines
The parents' home may need to be adapted, if suitable. In some cases the family may need to move house. Some older patients may wish to live in their own house as this gives a great feeling of independence. Due to recent changes in the rules for the Disabled Facilities Grant when making adaptations for disabled children, there is no longer a means test for housing adaptations for up to £30,000 in Wales and Northern Ireland, and up to £25,000 in England. The MDC adaptations manual is very useful:
Benefits are complex and you will need guidance. A “community care assessment” organised by a social worker can be a big step in getting benefits for older patients. If you are the carer, you are also entitled to an assessment of carer's needs.
Bushby et al, Current Paediatrics 2005;15:292-300 The pdf file can be downloaded from: www.muscular-dystrophy.org/document.rm?id=351
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