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What is muscular dystrophy?

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The causes and symptoms of MD

Muscular dystrophy is the generic term used to describe a group of over 30 hereditary and genetic diseases that involve varying degrees of progressively weakening muscles. It is particularly concerned with skeletal muscles, but some types involve weakened smooth or cardiac muscles.

In addition to progressive muscle weakness, the disease is also caused by abnormalities in muscle proteins and dying muscle tissue and cells that control movement.

The group of muscular dystrophies (MD) generally affects movement and disability. While some cases can be mild, progressing slowly over a lifetime, others involve drastic deterioration commonly losing the ability to walk.

Muscular dystrophy is one of the most commonly known hereditary diseases. Some forms may be noticeable at birth, while others are often diagnosed in adolescence.

The symptoms of muscular dystrophy

The symptoms of muscular dystrophy vary according to each type and the person who is affected.

Some of the more common symptoms caused by muscular dystrophy are:

  • Frequent falls or difficulties with balance
  • Scoliosis or a curve of the spine
  • Difficulties using muscles in specific parts of the body, i.e. the face or pelvic areas
  • Joint contractures which cause conditions such as clubfoot (a condition which causes the feet to curve)

Some types of muscular dystrophy, like Duchenne for example, can shorten life expectancy, whereas others still cause muscle weakness, but it is still possible to live independently with the right support.

Types of muscular dystrophy

There are three most common types of muscular dystrophy:

  • Duchenne muscular dystrophy
  • Facioscapulohumeral (FSHD)
  • Myotonic

Each of these types differ greatly in the patterns of how the disease is inherited within a family, how and when the symptoms develop and the rate at which the disease progresses.

Let’s take each of them in turn.

Duchenne muscular dystrophy (DMD)

Duchenne MD is caused by genetic mutations in the genes that regulate dystrophin. Dystrophin is a protein that maintains the integrity of muscle fibre, and the second largest gene in mammals.

Because DMD is inherited through an X-linked chromosome, it is much more common in males than females because females have a second X chromosome. This normally protects them from displaying any symptoms. However, women can still pass this inherited recessive chromosome to their own children.

Typically, the symptoms of DMD start to develop in early childhood, normally between the ages of two and five years old, and then tend to progress as the child gets older. Though individuals affected by DMD have shortened lives, it is still possible for them to live into their 30s, with advancements in treatment continuing.

Facioscapulohumeral – FSHD MD

Affecting around 2,000–2,500 people in the UK, FSHD typically affects the group of muscles in the face, shoulders and chest. The symptoms of FSHD typically start to show in adolescence but can be at any time. Although they will progress over time, it is usually at a slow rate.

FSHD is caused by genetic mutations which produce a protein in the muscles, which then starts killing the actual muscle cells. This causes the muscles to weaken and, in some cases, those affected by FSHD require the use of a wheelchair.

It is not uncommon for several members of the same family to be affected by FSHD, and it is possible to detect the condition through a genetic test. A physical examination may also be carried out by a GP or doctor.

Myotonic dystrophy

There are two types of myotonic MD:

  • Type 1 (DM1)
  • Type 2 (DM2)

Around 9,500 people in the UK have one form of myotonic MD, with DM1 typically being the more severe of the two.

Like most forms of muscular dystrophy, myotonic MD causes a gradual weakening of the muscles. It gets its name from the presence of myotonia in the body, which causes muscle stiffness especially in the jaw.

Myotonic MD also leads to complications in other systems of the body, including in the heart, lungs, and eyes. However, many of the issues in these areas may not necessarily need specific treatments. For instance, it might be recommended for you to have a pacemaker fitted. Some children with myotonic MD may experience learning difficulties without any physical symptoms being displayed.

Living with muscular dystrophy

Currently, there is no treatment to completely cure or reverse any form of muscular dystrophy. However, it is still possible to live independently with the support of physiotherapy or occupational therapy to manage the physical symptoms of the condition. Specific medications may also be used.

Jonathan at university with his live-in carer Some people also arrange for extra help at home, enabling them to have the support they need in their familiar surroundings and which allows them to retain their independence. Take Jon for example, who came to us when he needed support to complete his PhD.

Some cases of muscular dystrophy are fairly mild while others are more severe. Though living with the condition will likely result in lifestyle changes, there are peer support groups across the country for muscular dystrophy to help you come to terms with these changes with the support of others with the condition.

Research into muscular dystrophy is continually being carried out in order to better understand what causes it, which it is hoped will lead to techniques to help diagnose and prevent muscular dystrophy before it progresses too far.

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