Muscular Dystrophy

Muscular Dystrophies are a group of inherited genetic conditions that gradually cause muscles to weaken. Muscular dystrophy is a progressive condition, meaning that its symptoms worsen over time.

Muscular dystrophies are a group of inherited genetic conditions that gradually cause muscles to weaken. Muscular dystrophy is a progressive condition, meaning that its symptoms worsen over time. It may begin by affecting a particular group of muscles before starting to affect muscles more widely. There is no cure for muscular dystrophy, but treatment can help to manage many of the symptoms.

What causes Muscular Dystrophy?

Muscular Dystrophy is caused by changes (mutations) in the genes responsible for the structure and functioning of a person’s muscles. These mutations are often inherited from a person’s parents.

More information can be found on the NHS muscular dystrophy information pages  

Types of muscular dystrophy

There are many different types of muscular dystrophy and each type presents with different symptoms. Not all types of muscular dystrophy result in significant disabilities and many do not affect life expectancy. Below we outline the features of some of the more commonly encountered types of muscular dystrophy.

Further information on the different forms of muscular dystrophy can be found on the Muscular Dystrophy UK website:

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy is one of the most common forms of muscular dystrophy. It is a muscle-wasting condition caused by the lack of a protein called dystrophin. It usually affects only boys. About 100 boys with Duchenne muscular dystrophy are born in the UK each year and there are about 2,500 boys and young men known to be living with the condition in the UK at any one time.

Duchenne Muscular Dystrophy is a serious condition that causes progressive muscle weakness. Owing to the lack of the dystrophin protein, muscle fibres break down and are replaced by fibrous and or fatty tissue causing the muscle to weaken gradually. In most cases children gradually begin to lose their balance and mobility over time and most children require the use of a wheelchair by the age of 11.

Your physiotherapist will be able to support you and  advise on a suitable exercise regime (including stretches to maintain muscle length), as well as making recommendations regarding equipment or adaptations.

Further useful information can be found in the Muscular Dystrophy UK – Duchenne Muscular Dystrophy Factsheet

Becker Muscular Dystrophy

The severity of the condition varies between individuals. Some people with Becker Muscular Dystrophy may struggle with sport as children. Their muscle weakness may become more pronounced in their teens or their 20s, causing difficulty in walking quickly, running and climbing stairs. In most cases they will be able to walk into their 40s or 50s, but for some the decline in mobility will be faster. Becker muscular dystrophy can also affect the muscles of the heart and the muscles used for breathing and it is vital that people affected receive the right specialist care.

Becker muscular dystrophy is caused when the body does not produce enough dystrophin (a vital muscle protein) or when the dystrophin does not work properly.

About 2,400 people in the UK have Becker muscular dystrophy, almost all of them male. Most people with the condition are diagnosed by the time they reach their 20s. It is not uncommon for several members of a family to be affected across generations.

It is important to try to keep as fit and active as possible. Active exercise strengthens muscles and this also applies to people with Becker muscular dystrophy. Regular daily exercise is better than occasional sudden bouts of exertion. Swimming is particularly recommended as it ensures gentle exercise to all body muscles, without over-exertion. Your physiotherapist will be able to provide advice and guidance regarding suitable exercise and activities.

In the more advanced stages of Becker Muscular Dystrophy, a wheelchair is likely to be needed for getting about independently, and for longer distances. There are other pieces of equipment that may be useful and a lot can be done to help both at home and at work to make certain tasks easier.

Further useful information can be found in the Muscular Dystrophy UK – Becker muscular dystrophy web pages.

Limb-girdle Muscular Dystrophy

About 1,400 people in the UK are affected by a form of limb-girdle muscular dystrophy. Limb girdle muscular dystrophy describes a large group of conditions, which mainly affect the shoulder and pelvic girdle muscles. The hip and thigh muscles also weaken and waste over time, causing increasing disability. Symptoms and complications associated with the condition vary between the different types. In some people, the heart and breathing muscles are also affected, leading to life-threatening health problems.

Limb-girdle muscular dystrophy can be diagnosed at any age. Its impact can vary widely between individuals even within the same family. Some people with milder forms of the condition will never become seriously affected. Others may struggle to lift their arms above their heads or may lose the ability to walk.

The muscles of the legs may deteriorate faster than those of the upper body. This means that people may have frequent falls, and may have difficulty walking longer distances, climbing stairs and getting up from the floor. People whose heart and chest muscles are weakened by the condition can experience further complications.

Your physiotherapist will be able to provide advice regarding appropriate activities in order to maintain fitness and muscle length as well as recommending suitable equipment if required.

Further information is available on the  Muscular Dystrophy UK – Limb-girdle muscular dystrophy factsheets / information page:

https://www.musculardystrophyuk.org/about-muscle-wasting-conditions/limb-girdle-muscular-dystrophy/

https://www.musculardystrophyuk.org/about-muscle-wasting-conditions/limb-girdle-muscular-dystrophy/the-limb-girdle-muscular-dystrophies-lgmds-factsheet/

Charcot Marie Tooth disease (CMT)

Charcot Marie Tooth disease (CMT) is a group of genetic conditions affecting the peripheral nerves, which connect the brain and spinal cord to the rest of the body. CMT causes the nerves responsible for muscle contractions and sensory input to become damaged and eventually die. This leads to weakness and wasting of the muscles below the knees and often those of the hands. It can also cause numbness or loss of feeling in the hands and feet. There are two main types of CMT – type 1 and type 2. They are classified according to exactly which part of the nerve is damaged. These two main types of CMT are further divided into sub-types, depending on how they are inherited and the gene that is involved.

In the more common types of CMT, the first signs usually appear in the first 10 years of life. In other types, it may not be until very much later, even into middle age. Parents may well notice the first symptom which is often a slight difficulty in walking due to problems with picking up the feet.

The types of CMT, which run through the generations in families, are not usually severely disabling and are very slowly progressive. It is unusual for people with CMT to lose the ability to walk, although some people (especially older people) need to use a stick or other walking aids. It is important to stress that the condition often varies enormously in severity, even among members of the same family.

Further information can be found in the Muscular Dystrophy UK – Charcot Marie Tooth Disease Factsheet.

Myotonic Dystrophy

Myotonic Dystrophy is a genetic condition that causes progressive muscle weakness and wasting. It typically affects muscles, the electrical conduction system of the heart, breathing muscles, swallowing muscles, bowels, lens of the eye and brain. The age when symptoms start varies a lot and can be any time from birth to old age. In general, the later the condition starts, the milder it will be. There are two types of myotonic dystrophy. Type 1 tends to be more severe and more common in the UK than type 2.

Skeletal muscles are seen to be affected in two ways when a child has a diagnosis of myotonic dystrophy type 1. The first is a gradual weakening of certain muscles, over time. The muscles in the face, eyelids, jaw and neck are commonly affected. The muscles in the forearm, that enable us to grip objects, are often affected early on. The muscles around the ankles are also commonly affected and can lead to ’foot drop’ which causes people to catch their toes and trip. The large, weight-bearing muscles of the legs and thighs are usually affected much later.

The rate of deterioration in muscle strength is typically slow over many years. Some people never have significant muscle weakness. Some people, who are more severely affected, may need a wheelchair.

The second problem affecting skeletal muscles is an electrical problem, called ‘myotonia’. Myotonia causes muscle stiffness (difficulty relaxing the muscle), which especially affects the hands and jaw. This can be helped with medication supplied by your specialist but usually does not need treatment.

Further information can be found in the Muscular Dystrophy UK – Myotonic Dystrophy Factsheet.

Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle-wasting condition that causes muscles to weaken and waste over time leading to increasing disability. It particularly affects the muscles of the limbs, shoulders and face.

Between 2,000-2,500 people in the UK have FSHD. Several generations of a family are often affected by the condition.  It can be diagnosed at any age and can vary widely between individuals, even within the same family. One-third of those with the condition are unaware of the symptoms right into old age.

The earlier the muscle weakness appears, the more severe it is likely to become. Between 10-20% of people with the condition eventually require a wheelchair. It affects the muscles of the eyes and mouth, including the ability to smile.

FSHD is caused by a genetic mutation which causes a toxic protein to be produced in the muscle, killing the muscle cells. There is currently no treatment available targeting the underlying genetic causes of FSHD.

Further information can be found in the Muscular Dystrophy UK – Fascioscapulohumeral Muscular Dystrophy Factsheet.

Provide Children’s services take a holistic approach in empowering you to assist your child to participate and enjoy life to their fullest. For further support please see the following:

Essex Local Offer
Muscular Dystrophy UK
MIND
Action for Children
KIDS charity
Family FundNewlife charity

Essex Family Support Service