Treatment Congenital fibre type disproportion (CFTD)

There is no cure for CFTD although much research is currently being conducted into the congenital myopathies. There is currently no treatment for CFTD, and no effective treatment to halt the progression, there are different ways to manage the symptoms of CFTD and maintain quality of life.

Physiotherapy. The primary aim of an individual with a muscle-wasting condition is to increase or at least maintain muscle function and mobility. Physiotherapy can assist in doing this, and it can also maintain breathing capacity, delay the onset of curvature of the spine (scoliosis), and help prevent the development of contractures (tightness of joints). It is important that the physiotherapist involved is familiar with the treatment of people with muscle-wasting conditions.

Exercise. There is debate about whether people with muscle-wasting conditions should undertake strenuous physical exercise. Some say that putting additional strain on already weakened muscles will cause additional harm, while others believe exercise may increase muscle strength. Insufficient evidence exists to support either, but it is believed that moderate non-weight-bearing exercise such as swimming, walking or horse-riding may be the best solution. This sort of aerobic exercise helps to maintain a healthy cardiovascular system and a steady weight. It is however, important that this is discussed fully with a clinician.

Night-time ventilation. Breathing problems are common in people with CFTD, and thus respiratory function should be regularly monitored. A decrease in oxygen intake can lead to headaches, breathlessness, poor appetite and disturbed sleep, among other things. Night-time ventilation involves the use of a face-mask attached to a small machine, which assists in breathing. This aids the muscles that control breathing, and allows a greater intake of oxygen. Night-time ventilation may be beneficial to people with CFTD, but this should be discussed fully with a consultant to determine whether it is appropriate. If there is a tendency for chest infections, it is worth considering Pneumovax and the flu vaccine.

Feeding tube (or gastrostomy). This is a tube that goes into the stomach through the stomach wall and enables a person to be given food and fluids by passing them directly into the stomach via the tube. People with a myopathy may have problems with swallowing, which can lead to choking and inhalation of food, and can result in chest infections. A feeding tube prevents this from happening. There are a number of different types of feeding tube which are available, and these can be fitted during a short surgical procedure.

Corrective surgery. Scoliosis, or curvature of the spine, is common in CFTD. Spinal surgery aims to correct the posture by re-aligning the spinal column, and involves the insertion of rods, screws or wires. There are benefits and risks associated with this surgery, and more information is available from our Muscular Dystrophy UK helpline. As with other treatments, it is very important that the options are discussed fully with a consultant or specialist, before a decision is made. In young children, a spinal brace may be used and for children who do not walk, moulded seating may be used.