Muscular dystrophy: symptoms, types, diagnosis and treatment

The NHS says the main symptom is muscle weakness that gets worse as you get older. The symptoms you have and the age when they begin vary between the different types: some start in early childhood, while others do not start until later in life.

• Difficulty walking.

• Difficulty lifting things.

• Falling easily.

• Muscle pain.

• Tightness in the joints.

• In young children: floppiness, and taking longer than expected to crawl or walk.

Muscular dystrophy is a group of genetic conditions that cause progressive muscle weakness. Muscular Dystrophy UK is the charity that provides support and information to people with it and other muscle wasting conditions. The NHS says it is a rare genetic condition and that all types can affect your ability to move around.

Some types of muscular dystrophy can also affect other parts of the body, such as the heart, lungs or spine, and the NHS says it can affect how long you live, depending on the symptoms and how they affect you. Your care team can give more information about this.

There are many different types. The NHS says the type affects the symptoms and how severe they are, when they begin and how quickly they get worse (progress). Some types are quite mild while others have a significant impact on life.

The NHS says muscular dystrophy is a genetic condition, caused by an altered gene, and that different genes cause different types. The altered gene can be passed on from your parents (inherited), or you can be born with it even if your parents do not have it.

If someone in your family has been diagnosed, genetic testing can help you find out if you have the gene that causes it.

The NHS says that if a GP thinks you or your child may have muscular dystrophy, they will usually refer you to a specialist for tests. More than one test may be needed to confirm the diagnosis or identify the type.

• A blood test.

• A genetic test for a gene that causes muscular dystrophy.

• An electromyogram (EMG), where a small needle is put into a muscle to check its electrical activity.

• A muscle biopsy, where a small piece of muscle tissue is removed and tested.

• An MRI scan of the muscles.

The NHS says to see a GP if you are worried about your child's development. In young children, floppiness and taking longer than expected to crawl or walk are signs to raise. Duchenne muscular dystrophy, the most common type, begins in early childhood.

Duchenne UK says treatment with corticosteroids is recommended as the standard of care in Duchenne and that, on average, children who take steroids walk for three years longer than those who do not. A Cambridge University Hospitals leaflet says treatment with a corticosteroid should usually start by the time a child is four, and names prednisolone, deflazacort and vamorolone as the three available. Steroids are not a cure and have side effects, which the specialist team monitors.

The NHS says there is currently no cure, but treatment can help manage symptoms. Your treatment depends on the type of muscular dystrophy and your symptoms, and you will normally be supported by a team of different specialists.

The NHS says that if there is a chance you could have a child with muscular dystrophy, a GP may refer you to a genetic counsellor to discuss the risks and options. Tests are available before, during and after pregnancy for you and your baby.

These may include a genetic blood test to see if you carry the altered gene, a blood test in early pregnancy to check the sex of the baby (boys are more likely to be affected by some types), chorionic villus sampling (CVS) or amniocentesis during pregnancy, and a blood test after the baby is born.

The NHS says muscular dystrophy is different for everyone. Many people will need mobility equipment, such as a wheelchair, as muscle weakness gets worse. You will also be offered support for living with it, which may include help at home, at work and at school.

The NHS says your care team will pass information on to the National Congenital Anomaly and Rare Disease Registration Service, which helps scientists find better ways to treat and prevent the condition, and that you can opt out of the register at any time. Organisations that can offer support include Muscular Dystrophy UK, Pathfinders Neuromuscular Alliance and Duchenne UK.

On the NHS, a GP refers you or your child to a specialist for tests, and care is then usually provided by a neuromuscular team with physiotherapy, heart and breathing monitoring and equipment services.

Private paediatric neurology, genetics and physiotherapy services can provide assessment and some tests. Because management involves many specialists over many years, ask who will coordinate care between hospital teams, your GP, school or work and equipment services.