Muscular dystrophy

[د / أحمد محمد باذيب]

Is there a cure for DMD?

There is no cure for DMD at this time, but there continues to be a tremendous amount of research taking place across the world. Researchers have made great advances in their knowledge of DMD and continue to search for a cure. Some areas in which research is being focused at the moment include:
Gene Replacement Therapy – the aim is to produce a synthetic gene which can be introduced into the body ******* the job of producing the missing protein dystrophin. At present there are several difficulties to be overcome before this can be tried as a treatment for DMD.

Myoblast Transplants - in this procedure donor cells are injected into damaged muscle in the hope that they will fuse with the diseased muscle and create some normal muscle fibres which will then produce the dystrophin gene. This treatment has not proven effected so far.

Are there other problems associated with DMD?

Cardiac

In many cases of muscular dystrophy the heart tissue is affected in one of two ways.
Firstly the conduction tissue may be damaged, resulting in abnormal heart rhythms (the heart beating too fast or too slow). These can lead to symptoms such as dizzy spells, palpitations or blackouts. Fast rhythms can be treated and prevented with drug therapy. Slow rhythms are usually caused by a heart block and treatment may require insertion of a pacemaker (a minor operation carried out under local anesthetic).
Secondly, there may be a problem with the pumping action of the heart, called a cardiomyopathy, symptoms such breathlessness may occur. Cardiomyopathies are more likely to affect people with Duchenne or Becker MD. The diagnosis is made by a simple ultrasound examination of the heart called an echocardiogram (ECHO), which may be repeated to monitor the effects of treatment and progress of the disease. Drug treatment is given to improve the heart’s pumping action.
Although serious complications only occur in a small minority it is important for all individuals affected by DMD to have regular monitoring of heart function through electrocardiogram (ECG) tests and medical assessments. Female carriers who show no signs of (or very slight) muscle weakness may have some cardiomyopathy and should also have regular assessments.

Cognitive Impairment

The majority (about 65%) of DMD suffers have normal intellectual ability and show average or above average intelligence. However, intellectual problems or learning difficulties occur in approximately 35% of boys with DMD. In these cases it is thought that the affected children have difficulty with receiving information, storing that information and then retrieving it later. When difficulties do occur, it is thought to be associated with an alteration in the distribution of dystrophin in the brain. Learning difficulties appear to correlate with muscle weakness and there is little evidence to date to suggest that mutations of the dystrophin gene have an effect on cognition.

Behavioural difficulties may also be present which affect the boy’s social interaction at home, at school and in all areas of his life and for which he and his family will require support and assistance.
What will management of a child with DMD involve?
As mentioned earlier, at present there is no treatment that can overcome progressive muscle weakness in the long term. However, there are management options that can assist with the condition by minimising the secondary complications of muscle deterioration. These will vary as the condition progresses. A team of medical professionals will assist those with DMD and his family with this management programme. The team is headed by a paediatric neurologist and includes a physiotherapist and occupational therapist initially, together with specialists in other areas as required.

Exercise

Exercise, both active and passive, is an important aspect in the management of boys with DMD. The small boy, up to the age of around eight years, will participate in normal play exercise as far as he is able. It is important that he is not pushed to the point of exhaustion; too much exercise can cause additional muscle damage. Swimming or hydrotherapy is another way to exercise without putting undue stress on muscles. The buoyancy of the water gives a great assist to weak muscles and breath holding underwater allows exercising of the respiratory muscles. This form of exercise can be enjoyed long after walking is too difficult. Some boys continue to enjoy water sports well into the twenties age group.
From approximately six to eight years of age onwards, boys will require a manual wheelchair in order to manage longer distances. From about nine years of age an electric or power wheelchair enables the boys to maintain their independence when walking is becoming too difficult and falls more frequent. Many boys continue to participate in sports with their peers using their wheelchairs. Some, as they grow older, become involved in organised wheelchair sports.
Passive exercise, or assisted stretching, should be established as early as possible. Through the physiotherapist, exercise programmes are developed which aim to prevent, as far as possible, the shortening of muscles or ‘contracture’, which causes limitations in movement of joints. These exercises are undertaken on a daily basis and require the involvement of parents and/or caregivers.

Supportive equipment

Night splints are prescribed in an attempt to provide a more prolonged stretch in the calf and ankle. These splints will help to maintain the ankle joint in a normal position and prevent the development of contractures (muscle tightness). The use of standing frames during some part of the school day, once wheelchair dependent can be beneficial. Standing can assist with general circulation and provide a stretch at the ankles, hips and knees. Seating systems offer individualised support to maintain an upright position in the wheelchair and to ensure comfort. As the disorder progresses and mobility decreases, a manual wheelchair will need to be replaced by a powered wheelchair which will help to retain as much independence as possible. Other types of supportive equipment will be available as the need arises and advice concerning these will be offered by the physiotherapist, the occupational therapist and/or by the MDA.
It is wise to consider the suitability of the home environment at an early stage so that future adjustments can be made over time. For example, when a powered wheelchair becomes necessary, a suitable vehicle for transportation, as well as access and adjacent parking space, will also be required. Space for a ramp will be necessary and doorways need to be wide enough to allow a wheelchair to pass through. If the house has stairs between levels this will compromise accessibility. The bathroom will generally require modification so that equipment can be used to assist with bathing, dressing and toileting tasks.

Medical Treatment

Medication in the form of a type of steroid treatment has been proven to slow the loss of muscle function and therefore temporarily prolong a boy’s mobility. The ability to walk for a little longer however, does not affect a person’s expected lifespan. If the child’s neurologist, after discussion with the child and family concerned, considers this form of treatment to be suitable, he or she will decide at what age this should commence and what the appropriate treatment programme should be. If this option is chosen, the family should be carefully informed of possible side effects. The most prevalent of these are increased weight gain, osteoporosis (weakening of bones) and behavioural problems.

Nutrition

Excessive weight gain leading to obesity can occur not only as a side effect of steroid treatment, but also from reduced activity as a result of muscle weakness. Obesity can impair breathing function, may affect heart and bowel function (constipation is often a problem in DMD) and creates lifting difficulties for family and carers. To prevent excessive weight gain it is essential that weight is monitored and that a good balanced diet is followed. Parents, grandparents and other family members and friends can assist the DMD boy by offering healthy foods including the recommended high intake of fluid, fibre, fresh fruit and vegetables and restricting foods which contain high levels of fat and sugar.

Boys and teenagers who are overweight or underweight should receive individualised advise from there doctor or dietician to safely manage their nutritional status.
It is also important to realise that eating more protein will not have any effect on the lack of protein present in the muscles of boys suffering from DMD.

Surgery

Surgery is sometimes required to release contracture (tightness) at the ankle joints. This procedure is usually done once the child is wheelchair dependent. It helps improve their foot position for wearing shoes, increases the comfort of the resting foot posture and for a few it prolongs mobility. As the spinal muscles become progressively weaker and mobility decreases, the spine may begin to curve – this is referred to as ‘scoliosis’. Scoliosis, in turn, causes other complications such as respiratory problems as well as postural discomfort both sitting and sleeping. It is advisable that scoliosis is corrected by surgery at the ideal time during a ‘window of opportunity’ which takes into account the boy’s stage of adolescent growth. The medical team, headed by the neurologist, will discuss this option with the DMD boy and his family well before the surgery becomes necessary and will have appropriate input from an orthopaedic surgeon. Duchenne boys who undergo this ‘spinal fusion’ surgery are usually very pleased with the outcome.

Respiratory Function

A gradual deterioration in lung function occurs as respiratory muscles weaken. The early treatment of colds and the prevention of chest infections are important. People with DMD should never smoke or be subjected to a smoke-filled atmosphere by family members or friends. Surgery for the prevention of scoliosis and special physiotherapy techniques can assist to maintain lung function. However, as mobility decreases during the stage of wheelchair dependency, eventual respiratory difficulties become almost inevitable. These problems often begin at night causing disrupted sleep. Family members and caregivers must watch carefully for signs of morning drowsiness, lack of concentration, headache, and confusion, sleepiness during the daytime and wakefulness during the night with an increased need to be turned. Regular assessment by a respiratory specialist is essential.
When they become necessary, non invasive ventilation machines are offered where necessary to assist with breathing during the night and to allow effective sleep. For the DMD children, this is often the chosen option and, from his perspective, satisfactory quality of life can be retained. This option does require commitment from reliable caregivers whether they are parents, if the person is living at home, or professional caregivers if independent living arrangements have been made.

Education

There are two schooling options to consider: mainstream or special schooling. In Australia all DMD children have the right to attend a mainstream school. Each child should be given an individualised education plan (IEP) to get appropriate help with physical and educational needs. This includes the opportunity to learn computer skills – skills that will be important for him later when his muscle weakness makes writing difficult. He will become increasingly dependent on the use of his computer during his teenage years. Additional government funding called integration funding should be applied for by the school to ensure your son receives enough assistance (teachers aid time) at school to fully access the school curriculum. This integration funding also ensures that a physiotherapist and occupational therapist can be employed by the school to assess his needs regularly and ensure that the school environment is accessible as his needs change. The level of integration funding should be reviewed on a yearly basis. If there are problems with verbal and communication skills then development of creative skills can be encouraged. Often DMD boys are further handicapped by the attitudes of those around them – they may be over-protected or patronised. It is important that they are offered the educational opportunities to be productive and mentally stimulated.

Palliative Care

The difficulty of facing the inevitability of death from DMD can sometimes prevent acceptance of this final outcome. Ongoing open communication within the family is important and the boy’s questions should be answered honestly and with sensitivity when they arise. The family doctor and his related specialists are important members of the support team at all times and particularly during the terminal stage. The MDA can also guide and support families needing assistance to cope with grief and loss.
What can we do to help our son?
Communication is a key word in the coping process. If parents can speak openly and honestly with each other, sharing concerns and discussing ways to meet challenges, the whole family will benefit. Begin by asking the members of the medical profession and other support people all the questions that come to mind. Read everything that is available to you about DMD and continue to read in the future about current developments. Your son will ask questions and you will be better qualified to answer these openly and honestly if you are prepared with as much information as possible. Listen to him carefully and talk about the questions he asks and the issues he raises. Be open and approachable. Encourage him to discuss his needs, to learn to ask others for assistance when he needs it and to politely refuse when he can manage independently.

As noted above, smoking can be particularly harmful to the individual affected by DMD and the whole family should be aware of this. A healthy diet, with restriction on foods containing high levels of fat and sugar, and including plenty of fluids, fruit and vegetables can be encouraged. As parents, you can encourage special interests, physical exercise such as swimming, according to his mobility, and relationships with peers.
Your son does not need to be over-protected. He needs support, love, a warm and caring family environment and not least, the encouragement to live life as fully as possible with his friends and family. Many families living with DMD develop their own special activities and are able to continue to enjoy, rather than restrict, these family activities. You will need to adapt to living with DMD but it does not need to dominate your lives.
What about the needs of the rest of the family?
Rather than leaving the majority of the additional responsibilities to one family member, it is advisable to involve all family members as much as possible. Each one deserves help, understanding and at times respite (time out). Try to find a balance with space and time for all relationships – partners, parents with other children, siblings with each other, extended family and friends. Creating new friendships with other DMD families (or families living with other disabilities) can be rewarding for all concerned.
The MDA understands how difficult it is for parents and other family members to accept the diagnosis of DMD. Various stages occur in the coping process and these will vary through time. There will be times when you are suffering feelings of loss and grief, anger, resentment and guilt. There will be other times when you will feel quite positive emotions and a degree of acceptance. The MDA’s client services advisers are available to discuss concerns and provide information and support.
If further information is required in any of the areas discussed above, please contact MDA on
(03) 9320 9555 or visit The Home of MDA – www.mda.org.au

Additional Information Available

• Physiotherapy for DMD
• DMD - A Guide For Parents. A comprehensive guide..
• Omim Information on Duchenne MD.
• Duchenne MD OMIM Dystrophin
• Respiratory Assistance
• DYSTROPHINOPATHIES: Duchenne
• DYSTROPHINOPATHIES: Becker
• CREATINE KINASE (CK) Levels
• Utrophin

[ashraf3h4]

thanks dr. for this valiable and important information
may ALLAH bless you for this effort
waiting for such useful topics
thanks again waiting for more and more

[aLIALIALI]

اكرر شكري وتقديري لكم وارجو من الله عز وجل المساعدة وكشف الضر وبالله المستعان على كل بلاء

[سامية الحرف]

Thanks doctor