If you or a family member have been diagnosed with muscular dystrophy or a muscle wasting condition you are likely to feel overwhelmed by a mixture of emotions and want to understand more.
Everything you need to know about living well with muscular dystrophy
What is 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.
What causes muscular dystrophy?
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.
Muscular Dystrophy Types
There are various conditions that come under the ‘muscular dystrophy’ umbrella. Read on to find out more.
Here are the most common types of muscular dystrophy:
• Duchenne muscular dystrophy: usually affecting only boys, from a young age, this condition is caused by loss of a protein called dystrophin which leads to muscle weakness
• Becker muscular dystrophy: similar to Duchenne muscular dystrophy, this condition usually only affects males and develops a little later on in childhood
• 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
• Facioscapulohumeral muscular dystrophy: this condition progresses quite 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
• Limb-girdle muscular dystrophy: this is actually 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 hip and thigh
• Myotonic dystrophy: there are two types of this condition, with type 1 causing more severe symptoms and type 2 symptoms being experienced more mildly. 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 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
• 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
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.
Symptoms of Muscular Dystrophy
Here we cover the variety of symptoms that may occur with muscular dystrophy. If you are concerned that you may have any of these, please consult your GP.
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.
• Duchenne muscular dystrophy: the symptoms of Duchenne muscular dystrophy that are usually spotted initially 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: symptoms are similar to those of Duchenne muscular dystrophy but may be milder and have less effect on physical abilities
• Emery-Dreifuss muscular dystrophy: 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. They may also trip or fall more frequently. Additionally, some people may experience a slow heartbeat, breathlessness, palpitations and fainting and may need to have a pacemaker fitted at some stage
• Facioscapulohumeral muscular dystrophy: muscles in the face, shoulders and upper arms are mostly affected and often in one side of the body more than the other. Changes to the facial muscles are often noticed as the first symptom, often around the eyes and mouth. Shoulder blade muscles sometimes stick out more than usual. Sometimes, people with this condition have weakness elsewhere as well; 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: a person with this condition may first notice weakness in their hips and legs which may cause them to walk with a ‘waddle’. It can be difficult to get up from a sitting position, for example on the toilet or a chair. Some people do go on to need a wheelchair if they are experiencing falls due to the pelvic girdle and legs weakening. Shoulder weakness is also common
• Myotonic dystrophy: face, eyelids, jaw, neck and forearm muscles often become weaker. Vision can become cloudy, and swallowing can sometimes be difficult. Some people find their ankle muscles are affected which can cause 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: 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 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.
Diagnosis of muscular dystrophy
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. There are a number of other tests that you may undergo, including:
• MRI scan
• 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, 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.
Living with muscular dystrophy
Read on to discover more about living with muscular dystrophy and how it may affect a person’s daily life.
Impact on daily living
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.
Muscular dystrophy products
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.
At NRS Healthcare, we are experts in daily living aids designed to help with everyday living. Here we offer a short guide to muscular dystrophy aids. If you need further advice, our team of in-house occupational therapists are on hand to recommend products to suit your needs. Contact them on 0345 121 8111 or email firstname.lastname@example.org
Help with mobility
Help with getting in the bath
Support when taking a shower
Help with using the toilet
Help with standing up from a chair
Help to get in and out of bedBed rail, Mattress elevator, Profiling bed
Help with eating & drinking
Help for carers
Equipment for children
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.
Children with muscular dystrophy
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.
Muscular dystrophy treatments
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
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 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 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.
Exercise for muscular dystrophy
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.
Support for Muscular Dystrophy
Remember - you are not alone!
NRS Healthcare 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
Unsure what something means? Checkout our Glossary section below.
– a protein required in the muscles to function
– a protein found mainly in the muscles and heart
– part of DNA that controls the features that are inherited from parents
– building blocks of organs, muscles and tissue in the body
– Electromyography tests that diagnose muscle and nerve cell health
– an anti-inflammatory drug
– 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
– stands for Magnetic Resonance Imaging which is used to see inside the body, using a magnetic field and radio waves
– tension in the muscle
– a device that delivers electrical pulses to make the heart beat normally when placed in the chest, or sometimes in the abdomen
– drooping of the eyelid