Ventilation
Breathing problems are common in people with CNM, and it is not unusual for a baby or child with XLMTM to require long-term breathing support for at least some hours of the day and/or night. A decrease in oxygen intake can lead to, among other things, headaches, breathlessness, poor appetite and disturbed sleep.
Regular monitoring of respiratory function is important, even in those who appear to be more mildly affected. If a respiratory problem is identified, the muscles that control breathing can be supported with a bi-pap ventilator, which is a small portable machine that assists with breathing. It can be used with or without supplementary oxygen.
Some people who require a lot of breathing support in the day and night may need ‘invasive’ ventilation. This means placing a tracheostomy tube into the windpipe through a small incision. For those who do not require continuous breathing support, ‘non-invasive’ ventilation – involving the use of a face or nose mask – may be a better option. Discuss both options fully with a consultant to determine which is more appropriate for the individual.
Feeding tube (or gastrostomy)
This is a tube that goes into the stomach through the stomach wall, through which food and fluids can pass directly. People with a myopathy may have problems swallowing, and this can lead to choking and inhalation of food. It can also lead to chest infections. A feeding tube prevents all this from happening. There are a number of different types of feeding tube available, and they are fitted by a short surgical procedure. Read our gastrostomy factsheet for more information.
Physiotherapy
This can help to maintain breathing capacity, delay the onset of curvature of the spine (scoliosis), and prevent the permanent tightening of muscles and joints (contractures). It can also assist in increasing or maintaining function and mobility. It is important that the physiotherapist involved be familiar with the treatment of people with myopathies. Respiratory physiotherapy in the form of ‘airways clearance’ is also an important aspect of the day-to-day management of life with a congenital myopathy, especially if this requires a ventilator for at least some of the day.
Exercise
There is some debate over whether people with congenital myopathies 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. There is insufficient evidence to support either view, but moderate, non-weight bearing exercises 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 to discuss this fully with your GP and consultant.
Antibiotics
Chest infections are common in those with XLMTM and some forms of autosomal CNM, and complications with breathing can lead to a variety of other problems, including lethargy, headaches, and poor appetite. There is a variety of antibiotics available to treat chest infections, and your GP can advise on the most suitable. If there is a tendency to get chest infections, it is worth considering vaccines against pneumococcal disease and the flu.
Cardiac monitoring
This is recommended for people with mutations in the TTN or SPEG10 genes, as their heart muscle may be weakened.
Other things to consider
Anaesthetics
It has now been recognised that the use of general anaesthetics can cause a number of different problems in people with muscle-wasting conditions. Although anaesthetics are generally well-tolerated by most people with myotubular and centronuclear myopathies, there are some potential issues that can cause problems with breathing. Generally, if you’re properly assessed and monitored, the risks associated with anaesthetic use are low. It’s vital that the medical professionals involved, particularly the anaesthetist, are fully aware that you or your child has a form of myopathy.
However for people with mutations in the RYR1 gene, there is a risk of malignant hyperthermia (MH), an adverse reaction to certain general anaesthetics and muscle relaxants. For this reason, caution is advised when administering general anaesthetics to people with RYR1-related CNM.
Always ensure whoever is handling your care is aware of your condition so you can receive treatment that is most appropriate to you. Read our anesthetics factsheet for more information.
Medical alert card
This is one way to ensure health professionals are aware of your condition, should you require treatment. Many companies are able to provide a Medic Alert Card, which you can wear or carry, and which contain essential medical information. For your information, speak to your consultant.
Care plans
MDUK can provide you with a care plan so you can keep track of the medical professionals who handle your care, and any specific health needs you may have. Get in touch with us to request one.
Family planning
To find out about planning a family when you have a muscle-wasting condition, read our genetic counselling and family planning factsheets. We recommend that couples discuss this with their GP, who can then make a referral to a local clinical geneticist or genetic counsellor.
Research and clinical trials
If you’re interested in taking part in research and clinical trials, we’d recommend signing up to the Myotubular and Centronuclear Myopathy Patient Registry.
Patient registries are databases that contain information about individuals affected by a particular condition. With permission, researchers can access this information and recruit eligible patients to clinical studies. Registries also can also help clinicians to develop care standards and give patients a link to the research community. The MTM/CNM Registry sends out bi-annual newsletters to keep its participants updated on research, clinical trials and any other relevant information and events.
The MTM/CNM Registry is jointly funded by Muscular Dystrophy UK and the Myotubular Trust. For further information about centronuclear and myotubular myopathy and ongoing research, please visit the Myotubular Trust website.