There are more than 70,000 people living with some form of muscular dystrophy, so you are not alone. Many of these people live satisfying and fulfilling lives. At Complete Care Shop, our aim is to provide you with muscular dystrophy information and sources of advice and support to help you understand your condition, and how to live well with it.

What is muscular dystrophy?

Muscular dystrophy is an umbrella term for a group of 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’s 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.

What causes muscular dystrophy?

Genes help make proteins in the body that prevent damage to muscle fibres. Muscular dystrophy occurs when these genes are faulty or mutated, causing muscles to break down and become gradually weaker over time. The symptoms and types of muscular dystrophy are determined by which genes are affected and how.

We inherit our genetics from our parents, so if one or both of your parents have a mutated gene that causes muscular dystrophy, there is a chance you will inherit it. As a result, muscular dystrophy often runs in families.

Are there different types of muscular dystrophy?

There are many types of muscular dystrophy, with quite varied symptoms and prognoses. Each type is defined by where the muscle wastage and weakness occur within the body, and what causes this. Here are the different types, and symptoms, of muscular dystrophy:

• Duchenne muscular dystrophy
• Becker muscular dystrophy
• Emery-Dreifuss muscular dystrophy
• Facioscapulohumeral muscular dystrophy
• Limb-girdle muscular dystrophy
• Myotonic dystrophy
• Oculopharyngeal muscular dystrophy

Duchenne muscular dystrophy

Usually affecting only boys from a young age, this condition is caused by the loss of a protein called dystrophin which leads to muscle weakness. Symptoms include: delayed walking, difficulty standing up from sitting, or falling down frequently. Many young people affected will need to use a wheelchair from a young age. They may learn to speak later than other children of a similar age. Some children also have behavioural difficulties.

Becker muscular dystrophy

Similar to Duchenne muscular dystrophy, this condition usually only affects males and develops a little later on in childhood. Symptoms are similar to Duchenne but may be milder.

Emery-Dreifuss muscular dystrophy

Named after the two professors who described the condition, Emery-Dreifuss differs from other types of muscular dystrophy because it causes muscles to tighten and contract rather than just weaken.

Symptoms include: Muscles in the arms, feet and neck are often affected by contractures and become tighter, whilst muscles in the shoulders, lower legs and upper arms often become progressively weaker. People with this condition may find it hard to lift objects and raise their arms high.

Facioscapulohumeral muscular dystrophy

This condition progresses slowly and is so called because it is caused by genes that affect muscle strength in the face (as in ‘fascio’), shoulder blade (as in ‘scapulo’) and upper arm (as in ‘humero’). It occurs when a gene ‘switches on’ that is not required.

Symptoms for this type of muscular dystrophy affect muscles in the face, shoulders and upper arms and often in one side of the body more than the other. Changes to the facial muscles are often noticed as the first symptom, mostly around the eyes and mouth. Shoulder blade muscles tend to stick out more than usual. Sometimes, people with this condition live with weakness elsewhere too. For example, the lower legs can be affected, although it’s rare for people living with this condition to need the use of a wheelchair. Symptoms that are first noticed in children may include:

• Sleeping with eyes open slightly
• Unable to close their eyes completely
• Unable to purse the lips

Limb-girdle muscular dystrophy

This is a group of conditions caused by various genetic mutations, and the type of limb-girdle muscular dystrophy you are diagnosed with will depend upon what genes are affected. Symptoms vary quite differently according to the type you have. The main locations for muscle weakness are the shoulders and pelvis, including the hip and thigh.

A person with this condition may first notice weakness in their hips and legs which can cause them to walk with a ‘waddle’. It can be difficult to get up from a sitting position and some individuals need a wheelchair if they’re experiencing falls due to the pelvic girdle and weakening of the legs. Shoulder weakness is also common.

Myotonic dystrophy

There are two types of this condition, with type 1 causing more severe symptoms and type 2 symptoms much more mild. It can occur at any age and those who develop the condition later in life tend to have milder symptoms, therefore receiving a type 2 diagnosis. Symptoms are caused by both the weakening of the muscles and myotonia which causes stiffness. Muscle strength reduces but this often occurs slowly over many years, and some people may need a wheelchair.

Symptoms for this type of dystrophy affect the face, eyelids, jaw, neck and forearm muscles, with all often becoming much weaker. Vision can become cloudy and swallowing can be difficult. Some people find their ankle muscles are affected which leads to trips and falls. Others also experience heart problems which may lead to dizziness and fainting, and some people will require a pacemaker.

Oculopharyngeal muscular dystrophy

This condition causes muscle weakness in the eye muscles – mainly the eyelids – and throat, resulting in vision and throat problems. It has a late onset and most people do not show symptoms until they are 40 years old or more.

Some people with this condition find they have ptosis (drooping eyelids) and double vision. They might experience swallowing problems, but this takes many years to develop. Similarly, weakness around the hips and shoulders or limbs may occur.

If you’re concerned that you or your child may be experiencing some of the symptoms discussed, it’s 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 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 Muscular Dystrophy UK which features a factsheet on each condition.

Muscular dystrophy diagnosis

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’re 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.

There are a number of other tests that you may undergo, including:

• MRI scan
• EMG tests
• Muscle biopsy to examine the structure of the muscle
• Genetic testing to find out which genes are faulty

Receiving a diagnosis of muscular dystrophy for you, your child, or another family member, can be difficult. However, there is support available to help you. Muscular Dystrophy UK operates a Freephone helpline at 0800 652 6352. The NHS also has plenty of information about muscular dystrophy and support you can seek.

Living with muscular dystrophy

Learning that you or your child have muscular dystrophy can be difficult to process and you’ll likely experience a wide range of emotions after diagnosis.

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.

People living with muscular dystrophy may experience difficulties with mobility which can affect their day-to-day lives.

Muscular dystrophy products

If you’ve been given a muscular dystrophy diagnosis and are finding some daily activities harder than they used to be, there are products and aids that can help you.

You’re likely to be entitled to an assessment by an occupational therapist (OT) who will visit you at home to find out what activities you’re having trouble with. They’ll suggest different ways of doing certain tasks, or equipment you require at home to help you.

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, such as grab rails and stand aids, or bath hoists for bathroom support.

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 utensils and so on. Our kitchen aids range features a number of supportive products that assist with these tasks. Some people may need daily living aids to help support themselves day-to-day.

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 out if there are any living aids that may help you or someone you care for, please telephone 03330 160 000.

Muscular dystrophy in children

If your child has received a muscular dystrophy diagnosis, you’re likely to be concerned about their future, how you will cope as a family, 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 Whizz Kids useful if your child needs mobility equipment.

Treatments for muscular dystrophy

If you have been diagnosed with muscular dystrophy, your doctor 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 medication or have a pacemaker fitted. Some people will be advised that surgery may help correct some of the physical symptoms they are experiencing and others will undergo physiotherapy sessions to help maintain their strength, ease stiff joints and ensure they stay flexible.

Muscular dystrophy and employment

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.

Diet and exercise for muscular dystrophy

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 a diet that’s high in protein as this is the building block of muscles. 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 GP or dietician before embarking on any special diets or taking supplements.

In terms of exercise, some people with the condition might find the idea daunting due to reduced mobility and strength. Exercise does not have to mean gruelling gym sessions or running; it can just 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.

Support and communities for individuals living with muscular dystrophy

There are lots of muscular dystrophy support groups and communities for those who are living with the condition, their families and carers. There is also a network of health and social care professionals, such as your GP, neurologist, occupational therapists and physiotherapists, that can support you.

Communities and resources

Communities you can join to speak with others with the condition include:

• Muscular Dystrophy UK Forums
• Parent Project Muscular Dystrophy
• Carers UK

Resources that you can lean on for support include:

• 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.

Muscular dystrophy glossary

While we try to explain things as simply and as clearly as possible, sometimes it’s necessary to use the correct medical terminology. Some medical terms are often tricky to pronounce and, if you’re not an expert in the subject, they can be difficult to understand. Here’s a list of terms used in this muscular dystrophy information guide with a brief explanation to make things clearer for you:

• 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 the 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.