Night-time ventilation – Breathing problems are common with the nemaline myopathies, and thus respiratory function should be regularly monitored. A decrease in oxygen intake can lead to, among other things, headaches, breathlessness, poor appetite and disturbed sleep. 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 a rod body myopathy, but this should be discussed fully with a consultant to determine whether it is appropriate.
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. This can result in chest infections. A feeding tube prevents this from happening. There are a number of different types of feeding tube that are available, and these are fitted by a short surgical procedure. See our factsheet on Gastrostomy.
Physiotherapy – The primary aim of an individual with a neuromuscular condition is to increase or at least maintain 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. It is important that the physiotherapist involved is familiar with the treatment of people with neuromuscular conditions.
Exercise – There is debate over whether people with neuromuscular conditions should undertake strenuous physical exercise. Some say that putting additional strain on already weakened muscles will cause additional harm, while others believe the 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 pedalling 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.
Antibiotics – Chest infections are common with the nemaline myopathies and complications with breathing can lead to a variety of other problems, including lethargy, headaches, and poor appetite. Antibiotics are used to treat chest infections. There are a variety of antibiotics available, and a GP will be able to advise on the most suitable. If there is a tendency towards chest infections, it is worth considering pneumovax (prevenar in children under two years) and the flu vaccine.
Currently there is no cure for the nemaline myopathies. However, much research is currently being conducted into the myopathies, including the rod body myopathies. Although there is no effective treatment to halt the progression, there are a couple of different ways in which to manage the symptoms of the nemaline myopathies, as outlined above.
Researchers worldwide are exploring many avenues in an attempt to develop more effective treatments and, it is hoped, a cure. The research department at Muscular Dystrophy UK regularly monitors research advances in the congenital myopathies, and sends updates to members when significant scientific advances occur.
Other things to consider
Anaesthetics – It has now been recognised that the use of both local and general anaesthetics in people with neuromuscular conditions can cause a variety of different problems. Although anaesthetics are generally well-tolerated by people with a nemaline myopathy, owing to the nature of the anaesthetic drugs used, problems can include dysfunction of the heart and relaxation of the muscles around the lungs, causing problems with breathing. Generally if a patient is properly assessed and monitored, the risks associated with anaesthetic use are low, but it is very important that the medical professionals involved are fully aware of the muscle condition.
Medical alert card – It is very important that health professionals are aware of your condition, should you require treatment. There are often issues they will have to consider. Many companies are able to provide a Medic Alert Card, which can be carried to advise of any medical condition. These come in the form of bracelets, pendants, etc and carry essential information. Please contact the Care and Support team for details of companies that produce alert cards.
Pregnancy – Pregnancy and delivery are generally well-tolerated in mothers with nemaline myopathy. It is, however, important to monitor breathing and heart function, and consideration should be given to any muscle weakness of contractures, which may complicate the delivery.