DMD - A Guide for Parents

Section 2

Medical and Surgical Care

At the moment, there is no cure for muscular dystrophy but scientists all over the world are involved in research to find a useful treatment or cure. Some recent developments are hopeful and are explained in the section titled Research and Hope for a Cure. However, the lack of a cure at the moment does not mean that nothing can be done. It is often stated that Duchenne muscular dystrophy is "incurable but not untreatable". There are a number of options to help maintain the muscles bones and joints in the best possible condition. Emotional, social, educational and vocational needs of people with muscular dystrophy can also be met. Their abilities can be nurtured and they can live a useful and rewarding life.

There are no hard and fast rules as to how a boy with Duchenne muscular dystrophy should be cared for. Parents may find that the approach varies from state to state or even from one professional to another in the same city. This does not mean that one way is right and one way is wrong. An individualised approach is required in order to take into account the age of the boy, the severity of his problem at the time, the home and school environment, the expectations and values of the parents and the availability of appropriate services, among other considerations.

There are many professionals available to offer help depending on the needs at the time. These include physicians, orthopaedic surgeons,(bone specialists), physiotherapists, orthotists (specialists who make or provide the various pieces of equipment to maintain posture and mobility), occupational therapists, dietitians, nurses, social workers, psychologists, teachers, religious advisers, staff from the Muscular Dystrophy Association, parents and other persons with muscular dystrophy, to name a few.

Most boys with Duchenne muscular dystrophy have the diagnosis made or confirmed at the Royal Children's hospital. Hence many services are available there or are arranged by staff at the hospital with other organisations that provide services for people with disabilities, such as the Muscular Dystrophy Association.

With so many people to help, sometimes parents receive conflicting advice, or they may not understand why they are being told to do something. Alternatively, parents may feel that their needs are not being addressed. If this happens it is important to ask questions of the professionals involved as usually the problem can be resolved with further discussion.

Physiotherapy

Physiotherapy involves a program of stretching exercises to maintain muscle length and the flexibility of joints. Physiotherapists also work with orthotists, who make or provide various pieces of equipment to maintain posture and mobility. Night splints, callipers, swivel walkers and braces are some of the aids used. Physiotherapists are the main people involved in showing parents the exercises and in making sure that any mobility aids are comfortable.

At the time of diagnosis or shortly after, boys with Duchenne muscular dystrophy have a tightening or shortening of the tendo Achilles (heel cord). One of the first tasks of the physiotherapist is to show parents how to stretch the heel cords. It is best if this can be done by the parents at home several times per day. These daily excercises will be maintained over years and it can be difficult to make sure they are always completed. Parents should not feel guilty if occasionally they have to miss a stretching excercise. Sometimes a night splint is also prescribed. This is a polypropylene (plastic) splint that fits over the foot and behind the ankle and calf. It keeps the foot at 90 degrees to the leg and as a result the heel cord is kept stretched rather than shortened during the night. Some boys find the night splints are too uncomfortable and sometimes their use has to be discontinued. It is important for parents not to blame their child or to feel guilty themselves if the night splints are not tolerated.

As muscle weakness increases and various tendons become tighter the physiotherapist will increase his or her involvement with stretching exercises and sometimes the fitting of splints or braces to maintain the ability to walk. At the appropriate time the physiotherapist will be very involved in obtaining the correct wheelchair and in helping to solve many seating and other problems that arise. Keeping the patient sitting upright as much as possible to minimise the development of scoliosis (curvature of the spine) is important. (more info)

Surgical Support

Sometimes boys with Duchenne muscular dystrophy require operations to correct contractures (joints out of alignment) and scoliosis (curvature of the spine). They are not used in every case and are only offered after careful assessment of all medical considerations. these operations are done by orthopaedic surgeons.

Because weakness does not equally affect all muscles that move a joint, some joints can be pulled out of alignment. If this persists for long enough it will not be possible to get the joint back into its correct position. This is called a contracture. The ankles, knees and hips are places where contractures occur early. In the later stages joints in the arms are also affected.

Toe walking (walking on "tip toes" or the ball of the foot) is due to tightening of the Achilles tendon at the back of the ankle. This tightening (equinus deformity) prevents the heel striking the ground properly. Particularly in the wheelchair stage, other muscles around the ankle also become tight. If measures are not taken to minimise this tightening, the front of the foot may not only point down but the whole foot may start to turn under so that the outer side of the foot rests on the foot plate of the wheelchair (equino-varus deformity). As mentioned previously, the use of physiotherapy and plastic splints can help slow down the develpment of these conditions. If toe walking proves to be a problem or if in the wheelchair phase the deformity causes problems or is cosmetically unacceptable, an operation can be performed to correct the malalignment. This operation is called elongation of the tendo-Achilles (ETA). Under some circumstances a tendon may be transferred from the back to the front of the ankle at the time that the ETA is being performed, to help pull the front of the foot up. This is called a tibialis posterior transfer operation. The feet need to be in a plaster cast for about 3 weeks after an ETA, but for longer after the transfer opertion. Hence the procedure is usually reserved for patients who cannot walk.

Treating Scoliosis

A major problem during the wheelchair phase may be the development of scoliosis (curvature of the spine). The muscles on either side of the spine help to keep the bones of the spine in the correct position. If the muscles are weakened, no matter what the cause, the bones will drift out of alignment, usually sideways but also with some rotation. Parents may notice that there is more of a "hump" on one side of the back of the chest than the other. This is due to a rotation of the bones of the spine and results in the ribs being more prominent on one side. If parents notice any evidence of scoliosis they should report it to the physiotherapist or doctor.

Although scoliosis does not always develop, once a significant spinal curvature has occurred it is likely to get worse over the years and will require treatment. If untreated, spinal curvature can cause discomfort, reduce breathing capacity, interfere with the use of the arms and cause difficulty for caregivers during activities such as dressing. Sitting in a wheelchair can become more uncomfortable. There can also be significant psychological effects on self-image.

Attempts to stop increasing curvature by various body jackets and bracing devices have not been successful. It is now felt that once this problem has developed the only reliable way to prevent deterioration is to operate to straighten the spine and fuse the bones together by bone grafts. The spine is kept straight with various rods and wires attached to the bones while waiting for them to fuse solidly together. The rods do not need to be removed. It is usually performed at 13 or 14 years of age. Although the operation is a major one, most boys have tolerated it well and have benefited physically and psychologically from having it done.

Tightening of muscles and fibrous tissue at the front of the hips and around the knees occurs as mobility decreases. This tightening increases in severity once the wheelchair stage is reached. Similar tightening develops in the arms at a later stage than in the legs. Operations are not needed in the arms or hands but sometimes they are required at the hips. Occasionally operations other than those mentioned above are necessary. It should be remembered that not all boys with Duchenne muscular dystrophy require all, or sometimes even any, of these operations. (more info)

Respiratory Care

Both physiotherapy and hydrotherapy contribute significantly to good respiratory function. Boys with Duchenne muscular dystrophy are no more susceptible to infection than others and in the early years there is no need for anything other than "routine" treatment of coughs and colds. Later on, however, particularly in the wheelchair stage, the chest muscles will be weaker than usual and it will be more difficult to cough up secretions that accumulate in the breathing passages. This leads to what is called collapse and consolidation of the lungs. Therefore, should a head cold or an upper chest infection develop, early use of antibiotics and particularly chest physiotherapy is usually recommended to help prevent more serious complications. Sometimes hospitalisation is required for more intensive therapy than can be given at home.

As the chest muscles become weaker the lungs are unable to take in as much oxygen and get rid of as much carbon dioxide from the blood as usual. Sometimes a build up of carbon dioxide in the blood during the night causes daytime drowsiness, headache and lethargy, particularly in the mornings.

The lifespan of people with Duchenne muscular dystrophy is determined largely by the strength of the chest muscles needed for breathing and coughing. In recent years, advances in the ability to provide mechanical assistance for breathing have meant that options for relieving some of the symptoms of breathing failure in the late stages of the disease have increased. The options range from using a mask over the nose at night to full mechanical ventilation during the day via a tracheostomy tube ( a tube in the windpipe). Whether any of these techniques are used depends very much on the personal views of the affected person and his family. A detailed discussion of the pros and cons and the problems involved in assisted ventilation is beyond the scope of this booklet. (more info)

The Heart

The heart is a specialised muscle and while it is not as severely affected as muscles in the arms and legs, nevertheless some abnormalities do occur. Fortunately these do not usually cause a serious problem. However, sometimes in the late teenage years or afterward there can be problems if the heart muscle becomes weak and is not effectively pumping blood to other parts of the body. Increasing lethargy or tiredness, swelling of the ankles or shortness of breath, particularly at night, may be signs of a heart abnormality and medical advice should be sought. Treatment with medications can usually relieve these symptoms.

If there are symptoms and signs of a heart failure these can usually be relieved by drugs that are commonly used to treat older people with heart failure from other causes. Tablets to decrease body fluid (diuretics) and to stimulate heart muscle (usually digoxin) are used. Occasionally other drugs are used to treat abnormalities in heart rhythm.

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