Muscular Dystrophy (MD) is a term used to cover several conditions. Each can present with different severity and symptoms depending on an individual’s diagnosis. Probably the most well known and most common is Duchenne Muscular Dystrohpy (DMD).
DMD is a neuromuscular condition that causes progressive muscle weakness. This is due to a lack of protein called Dystrophin. DMD is a genetic condition linked to the X chromosome, and therefore affects males. Females can, however, be carriers of DMD. Approximately 100 boys are born in the UK with DMD every year.
Boys with DMD often first present with mobility problems at a very young age (around 2-4 years). They may seem clumsy, struggle to keep up with their friends and be unable to complete more difficult physical tasks such as climbing stairs and jumping. It is also very common for them to resort to walking on their toes (although there are many other reasons for toe-walking). They may have frequent falls and tire very easily. Diagnosis can be via a DNA test and/or muscle biopsies, but your first port of call if you have any concerns should be your own child’s GP.
There are several specialist centres for DMD, including 3 in the North-West (Alder Hey, Oswestry and Manchester). They all have their own teams which include Consultants and physiotherapists who review and assess the boys regularly and liaise with their local doctors and therapists.
There is currently no cure for DMD. Treatment consists of managing the symptoms of the condition, which can include maintaining mobility, medication and regular monitoring. There are several research projects and trials being held all over the world to try to find a cure or the best treatment for DMD.
Physiotherapy is key to maintaining muscle length and mobility for a child with DMD. Regular stretching, use of standing frames, hydrotherapy, orthotics and specialised seating all help to promote postural management and maintenance of function. Physiotherapists may also be involved in respiratory management-that is setting up and use of equipment to help the boys maintain their oxygen levels and clear their airways if required.
For specific information regarding Muscular Dystrophy, please look at the Muscular Dystrophy Campaign website at http://www.muscular-dystrophy.org/. The Muscular Dystrophy Campaign is the leading UK charity focusing on Muscular Dystrophy and related conditions. They have the most up to date information regarding treatment and research for MD. They have a fantastic network of families and fundraising across the country.
If you have any questions or concerns regarding your own child, please contact us at firstname.lastname@example.org to see if we can help.