Muscular dystrophy

Muscular dystrophy is an umbrella term for a group of quite rare, genetic conditions that cause weakened muscles. These conditions may also be referred to as ‘muscle wasting conditions’.

Muscular dystrophy causes a change in some people’s physical abilities, which may get worse over time. There is currently no cure but research is continuing, and there are a variety of treatments that can help manage symptoms so that you can live well with your condition.

Genes help make proteins in the body that prevent damage to the fibres in the muscles. Muscular dystrophy occurs when these genes are faulty or mutated which causes muscles to break down and become gradually weaker over time.

The symptoms of muscular dystrophy and the types of muscular dystrophy are determined by which genes are affected and how.

We inherit our genetic make-up from our parents, so if one or both of your parents have a mutated gene that causes muscular dystrophy, you may inherit this. Muscular dystrophy therefore often runs in families.

Here are the most common types of muscular dystrophy.

If the type of muscular dystrophy you have been diagnosed with is not listed, you may wish to visit the Muscular Dystrophy UK website for a comprehensive list.

There are many symptoms of muscular dystrophy and those you experience will depend upon the type of muscular dystrophy you are diagnosed with. It is important to remember that not everyone will have all of the symptoms we discuss below.

If you are concerned that you or your child may be experiencing some of the symptoms discussed here, it is important not to panic, and to see your GP. Many of the symptoms of muscular dystrophy are also symptoms of other conditions. If you already have a diagnosis of muscular dystrophy, remember that each person will experience their condition very differently. We have covered a broad range of symptoms for each type of muscular dystrophy, so you may not experience all of these.

For more information on symptoms for each type of muscular dystrophy, including those not discussed here, please visit the Muscular Dystrophy UK website which features a factsheet on each condition.

Your GP is the first port of call if you feel you or your child may be experiencing symptoms of muscular dystrophy. Your doctor will investigate these symptoms and examine you physically. If they think your symptoms warrant further investigation, they may refer you to a specialist in muscle wasting conditions.

You are likely to have some blood tests undertaken which can test for raised levels of a protein called creatine kinase which can suggest a muscular dystrophy condition.

Receiving a diagnosis of muscular dystrophy for you, your child, or another family member, can be difficult, but there is support available to help you. Muscular Dystrophy UK operates a Freephone helpline – telephone 0800 652 6352.

To find out more visit the Muscular Dystrophy page on NHS website.

People living with muscular dystrophy conditions will each have a different experience. Many people will be able to live independently. Some people will need support from family or carers and may need aids for daily living to make everyday tasks more manageable. Some people will need full-time care. It is possible to lead a full life with many types of muscular dystrophy.

People living with muscular dystrophy may experience difficulties with mobility which can affect their day to day lives. There are many muscular dystrophy types, and each one differs in terms of average age of onset, which muscles are affected, and how much support a person may need with daily tasks.

If you have been given a muscular dystrophy diagnosis and are finding some daily activities difficult, there are products and aids that can help you.

You are likely to be entitled to an assessment by an occupational therapist (OT) who will visit you at home to find out what activities you are having trouble with and to suggest different ways of doing things, or equipment you require at home to help you. Contact your local social services department for more information.

Some people with muscular dystrophy will need a wheelchair at some stage, which may be required either for short periods of time or permanently. Not everybody requires a wheelchair, and if a person is experiencing problems with the muscles in their lower limbs, they may need equipment to help stabilise themselves, preventing trips and falls.

Some conditions affect the mobility of the arms, which can lead to difficulties in simple daily activities such as raising a cup, brushing hair, using cutlery and so on. Some people may need equipment to help them get in and out of the bath or shower.

People with a muscular dystrophy diagnosis are likely to find that their abilities and needs change over time if their muscles deteriorate further.

If you would like to speak to one of our Occupational Therapists to find if there are any daily living aids that may help you or someone you care for, please email them [email protected] or telephone 0345 121 8111.

The Disabled Living Foundation offers a full list of factsheets on how to choose daily living equipment and a helpline to contact if you need further advice.

If your child has received a muscular dystrophy diagnosis, you are likely to be concerned about their future, how you will cope as a family with the condition, and how your child can live well with their condition. Many children are able to live full lives with muscular dystrophy but may need specialist equipment, support at home and school and frequent medical appointments. There is a lot of support and advice available from Muscular Dystrophy UK, including helpful factsheets especially designed for families.

You may also find the Whizz Kids website useful if your child needs mobility equipment.

If the type of muscular dystrophy you have been diagnosed with is not listed, you may wish to visit the Muscular Dystrophy UK website for a comprehensive list.

Your doctors may prescribe corticosteroid medication, known as ‘steroids’, which may help improve the strength in your muscles and potentially slow down any weakening.

If your condition affects the way your heart functions, this will be regularly assessed, and you may need to take heart medications or have a pacemaker fitted.

Some people will be advised that surgery may help correct some of the physical symptoms they are experiencing.

Most people will undergo physiotherapy sessions to help maintain their strength, ease stiff joints and ensure they stay flexible.

For further, detailed information on treatments for muscular dystrophy visit the NHS website

Many people with muscular dystrophy are able to continue working, but may require support from their employers to adjust the tasks and environment to allow them to work efficiently, safely and comfortably.

Many young people with muscular dystrophy symptoms are able to go to school, college/university and then on to the workplace. Muscular Dystrophy UK runs a project called Moving Up, which involves a network of organisations that help young people gain credible and enjoyable work experience to help their future careers, confidence and self-esteem.

Eating a well-balanced diet is important if you have muscular dystrophy as carrying extra body weight can cause pressure on weak muscles and the heart.

Some people choose to eat a diet which is high in protein since this the building block of muscles, and others take supplements for muscular dystrophy such as vitamin D and calcium. There is no proof that these dietary changes can slow down the progression of the condition or reduce symptoms, so we recommend checking with your doctor or dietician before embarking on any special diets or taking supplements.

Some people with muscular dystrophy may find the idea of exercise a little daunting due to reduced mobility and strength. Exercise does not have to mean gruelling gym sessions or running – it can simply be a case of increasing the amount of physical activity you undertake in a day. A physiotherapist will be able to advise on how to safely increase your activity levels within your physical limits. The benefits of exercise are numerous, including managing your body weight, keeping the heart strong, strengthening muscles and increasing flexibility.

Muscular Dystrophy UK Forums

Parent Project Muscular Dystrophy

Carers UK

Healthcare Pro has a team of Occupational Therapists who can advise what equipment is available if you have muscular dystrophy. Contact them here.

Action Duchenne – leading the way in supporting innovative research to cure and treat Duchenne Muscular Dystrophy (DMD)

Duchenne Family Support Group – provides support for families with children diagnosed as having DMD

NHS Choices – helps to explain health conditions in more detail

Muscular Dystrophy UK – a charity that brings individuals, families and professionals together to beat muscle-wasting conditions

Creatine kinase

– a protein required in the muscles to function

Dystrophin

– a protein found mainly in the muscles and heart

Genes

– part of DNA that controls the features that are inherited from parents

Proteins

– building blocks of organs, muscles and tissue in the body

EMG

– Electromyography tests that diagnose muscle and nerve cell health

Corticosteroid

– an anti-inflammatory drug

Mutated

– a mutated gene is one that alters proteins in the body and causes abnormal developments

Muscle wasting condition

– another name for muscular dystrophy and a condition that reduces strength and function of the muscles in the body

MRI

– stands for Magnetic Resonance Imaging which is used to see inside the body, using a magnetic field and radio waves

Myotonia

– tension in the muscle

Pacemaker

– a device that delivers electrical pulses to make the heart beat normally when placed in the chest, or sometimes in the abdomen

Ptosis

– drooping of the eyelid