NERVOUS SYSTEM

As the degeneration process develops, muscle becomes bulky and soft as a result of infiltration of fat and fibrous tissue.

There are several different types of the disease, each initially affecting different groups of muscles with different ages of onset and survival times.

Duchennes Muscular Dystrophy is the characteristic condition which appears in the first three years of life, almost exclusively in the male child and is an inherited condition passed on through the mother who is a genetic carrier of the disease.

Female carriers can be identified by a history of affected male relatives, the presence of the condition in one of their male children and by positive blood enzyme tests.

Bulky calf and forearm muscles are both indications of the disease as it spreads to the thigh, hip, back and shoulder muscles. In the young child, walking is delayed in about half of the cases. When it does commence it is associated with a clumsy gait and frequent falls. Toe walking and a peculiar running waddling gait is characteristic. The child finds great difficulty in rising from the lying position and inclining stairs.

The progress of the disease varies from patient to patient. However, by the age of 12 to 13 all patients have lost the ability to walk and are confined to wheel chairs. Death by overwhelming lung infection associated with heart failure usually occurs before the age of 20 although with antibiotics, supportive and intense care, patients can live beyond this age.

Diagnosis is based on symptoms and signs backed up by blood tests, microscopic examination of muscle tissue and electrical examination of muscle activity.

No specific or effective treatment is available. Physiotherapy including passive stretching of muscles may delay the onset of joint deformities and help to maintain ambulation as long as possible. Once in a wheelchair, good back support with an upright posture is important.

Throughout the course of the disease, support for parents, family and patient is crucial. This will involve doctor, physiotherapist, occupational therapist and social worker. Assistance and psychological support can also be obtained from the various muscular dystrophy organisations which have set up in the major states of Australia, often in association with the local children’s hospital.