Treatment Duchenne muscular dystrophy (DMD)

No cure has yet been discovered, but there is promising research into the condition. A multi-disciplinary approach, with the input of specialists such as physiotherapists and occupational therapists, is the best way to manage Duchenne muscular dystrophy.

Having access to a multi-disciplinary team is vital to ensure someone with Duchenne muscular dystrophy receives a holistic approach to their care.

This means that in a single visit to your specialist neuromuscular centre, you can get important input from each health professional involved in your care. This includes respiratory, cardiac and physiotherapy professionals who are able to provide better support when working within a multi-disciplinary team.

Regular check-ups with a specialist doctor are important in order to make decisions about new treatments at the most appropriate time and, if possible, to foresee and prevent problems. It is recommended that you visit your doctor every six months, and the specialist physiotherapist about every three to four months.

The specialist physiotherapist will advise you on any interventions (such as stretching exercises), which might be required. It is important to allow your son to be as active as possible, and your specialist physiotherapist can guide you.

Steroids (prednisone or deflazacort) are often routinely prescribed for Duchenne muscular dystrophy, as they slow the decline in muscle strength and mobility over a certain period of time and prevent or postpone the development of complications. However, there are many possible side-effects which must be carefully managed.

Other drugs are beginning to become available for Duchenne muscular dystrophy, including Translarna (ataluren), which is currently available in some European countries to slow down the progression of symptoms in boys with Duchenne muscular dystrophy.

The drug works for only a small group of boys who carry a particular mutation in the dystrophin gene (’nonsense’ mutation – where a single letter change in the DNA code results in a premature stop codon). Your clinician will be able to tell you whether or not your son could benefit from this medicine. Other drugs targeting specific mutations may be approved in the coming years.

Intense research is continuing, in trying to find treatments for Duchenne muscular dystrophy. Some medicines are currently being tested in clinical trials.

It can also be useful to ask for a copy of the genetic report (with the type and the location of the mutation in the dystrophin gene identified in your child). This will help in understanding which medicine and trials might be suitable for your child.

The Duchenne Muscular Dystrophy Registry provides updated information on ongoing clinical trials for Duchenne muscular dystrophy and can help identify which children are potentially eligible for specific clinical studies. Your clinicians will be able to tell you how to register your child on this registry.

The North Star Adult Network, made up of neuromuscular expert consultants, allied health professionals, individuals living with Duchenne muscular dystrophy, and Muscular Dystrophy UK, is working together to improve the standards of care and support available to adults across the UK. This network mirrors the paediatric version – the North Star Project – which works to optimise the care of children with Duchenne muscular dystrophy.