Muscular dystrophy

Muscular dystrophy

What is Muscular dystrophy?

Muscular dystrophy refers to a group of rare diseases which progressively weaken muscles.

There are many different types of muscular dystrophy, all caused by genetic abnormalities. The age at which they start and the symptoms and severity vary.

Some people shows signs of muscular dystrophy early in life, and some may die within a few years. But others have a much milder condition that develops much more slowly and doesn’t lead to serious disability.

There are many treatments, therapies and services that can improve the condition and quality of life of people with muscular dystrophy. With good medical management, people with some types of muscular dystrophy live long and fulfilling lives.

Types & Severity

There are many types – the most common ones follow.

 

Duchenne muscular dystrophy

Duchenne muscular dystrophy mainly affects boys, usually appearing at age 3 to 5. It causes muscle weakness and wasting that starts in the pelvis and thighs, which then spreads to affect the arms, legs and trunk. Children may fall frequently and have difficulty walking, running and jumping. Most children with Duchenne muscular dystrophy can no longer walk by the age of ten to 12. The disease can also cause breathing difficulties and heart problems. Most people with Duchenne muscular dystrophy die in their late teens or early twenties, but some live past 50.

 

Becker muscular dystrophy

Becker muscular dystrophy starts in teenage or early adult years, affecting mainly boys and young men. It is similar to Duchenne muscular dystrophy, but milder. Most people who have Becker muscular dystrophy survive into middle age, and some have a normal lifespan.

 

Myotonic muscular dystrophy

This is also known as myotonic dystrophy or Steinert’s disease. Different types of myotonic dystrophy come on at different ages, with different effects. The different type are united in that they all make muscles weak, but also stiff after contraction.

 

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy usually appears in teenagers or young adults of either gender, but can also affect babies.

The name comes from the Latin words for the parts of the body it affects, which are the muscles in the face (facio), the shoulder blades (scapulo) and the upper arms (humeral). Facioscapulohumeral muscular dystrophy develops slowly and often people consult a doctor only when they find difficulty opening or shutting their eyes, smiling or reaching over their heads. They may have trouble with swallowing, chewing or speaking. Later symptoms can include weakness of the muscles in the hip, abdomen and lower legs as well as pain and widespread inflammation.

Most people with the disease have a normal lifespan, although some may eventually need to use a wheelchair.

 

Congenital muscular dystrophy

Congenital muscular dystrophy affects babies. There are many different types with names like Fukuyama congenital muscular dystrophy and Ullrich’s disease.

Babies with congenital muscular dystrophy have problems controlling their muscles. Often the first sign is weak muscles and difficulty holding their heads up. As they develop, they are late to crawl and walk. It can affect their breathing and cause stiff and frozen joints. Some children with congenital muscular dystrophy have an intellectual disability.

 

Distal muscular dystrophy

Distal muscular dystrophy usually begins in adults, although it can start in children or teenagers. It mainly affects muscles in the feet, lower legs, hands and forearms, and is less severe than other forms of muscular dystrophy.

 

Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy mainly affects boys. It first causes muscle weakness and wasting in the shoulders, upper arms and calf muscles, then spreads slowly to the chest and pelvic area. People with Emery-Dreifuss often develop problems with their heartbeat and need care from a heart specialist.

 

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy can start in children, teenagers or adults of either sex. People affected have muscle weakness and wasting around the neck, shoulders, hips and legs. In time, it becomes hard to walk and keep your balance. In time, it often affects the muscles in the chest, making it hard to breathe.

 

Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy usually first appears in men or women in their forties or older. It mainly affects the face, and can be mild or it can be severe. Some people also develop problems with walking and with their heart.

Causes

Muscular dystrophy is caused by defects or mutations in particular genes. Different gene defects lead to different types of muscular dystrophy. Usually, a person with a muscular dystrophy has inherited the gene. In some cases, the parents will have known they had the gene, but in others, they couldn’t have known.

Occasionally, people develop a new mutation or abnormality in a gene which leads to a form of muscular dystrophy. For these people, their parents had not passed on the gene.

What does the faulty gene do? Usually, it doesn’t do the job it should do of instructing the body to produce a protein that’s necessary for strong muscles. So without the proteins they need, the muscles gradually weaken.

Diagnosis

Some forms of muscular dystrophy, including congenital muscular dystrophy, are likely to be picked up soon after birth, or when the child is very young, by a paediatrician or hospital team.

Older children, teenagers and adults will usually notice muscle weakness as the first sign.

Your GP will be able to help, but will probably refer you on to a specialist such as a neurologist. The doctors will talk to the person affected, examine them and probably arrange some tests, which might include:

  • genetic tests to identify the defects that caused the condition
  • tests on muscles and nerves
  • blood tests
  • cardiac tests such as electrocardiogram, an echocardiogram or magnetic resonance imaging
  • lung or breathing tests
  • a muscle biopsy, which involves surgically removing a small section of muscle to see what is happening.

Symptoms such as muscle weakness are difficult. It can take months for a particular form of muscular dystrophy to be diagnosed.

 

About testing for genetic conditions

You should not have genetic testing without thinking it through carefully. There are many issues to think about. What is the effect of a test on other family members? Do they have a right to be part of a family decision about testing? Would a genetic test affect your working conditions or your chances of getting insurance?

If you want to discuss testing, it is worth starting with your family doctor or a genetic counsellor. A genetic counsellor works with families to discuss genetic conditions. You can discuss with them whether or not testing is available, how reliable it is, the risks and benefits of testing, your privacy and the privacy of others, and about work and insurance. You can discuss your family with them, and how to talk to your family, and when. They generally work with other experts in genetics.

Living with Muscular dystrophy

Getting a diagnosis of muscular dystrophy can be very distressing, especially for parents who wrongly blame themselves for passing on the genes for the disease. Muscular dystrophy is not anyone’s fault and most people are completely unaware that they carry the genes for the disease.

It can be uncertain at first what impact you can expect. Many people naturally expect the worst, but it’s important not to jump to conclusions. Very little in life is certain.

You and your family will need time to come to terms with the diagnosis and what it means. People will feel different things at different times, including anger, denial, fear, anxiety, depression and more. 

It is a good idea to find out what you can about muscular dystrophy and about the support that is available from organisations such as the Muscular Dystrophy Foundation and Muscular Dystrophy Australia. But take your time and do it at your own pace.

 

Psychological and emotional support

It’s a good time to look for psychological and emotional support. There is a lot to think about, and a lot to deal with. You might be able to get the support you need from your partner, your family and your friends, but you can also look for support from a professional such as a psychologist, counsellor or social worker.

 

Household adaptations

At the right time, you can make adaptations to your home, such as rails, ramps for wheelchairs and hoists for lifting someone from a bed to a chair or bath. These adaptations can help the person affected stay at home as long as possible, and can also help those around them reduce their risk of injury.

 

Equipment and assistive technology

In time, some people with muscular dystrophy might need support to be mobile such as leg braces, ankle-foot orthoses, a cane, a walking frame, a wheelchair or a scooter.

There are also many aids that can help, if need be, with communication and breathing.

 

Exercise

People with muscular dystrophy should consult a physiotherapist or exercise physiologist about the best form of exercise. They may recommend a moderate form of exercise, such as swimming in a heated pool, which does not cause pain, muscle cramping or fatigue.

 

Diet and lifestyle changes

There are many ways to help:

  • maintain mobility
  • manage tiredness
  • improve sleep
  • improve breathing
  • manage swallowing problems.

For example:

  • relaxation techniques and breathing exercises can help with a sense of calm and control
  • therapeutic massage can help ease stiff muscles
  • a dietitian can help you adapt the diet, and advise on any special eating utensils, cups and plates that might be needed.

 

Personal and nursing care

Over time, some people with muscular dystrophy might need help from a personal carer, who can help with everyday activities such as dressing, bathing, going to the toilet, feeding, cooking and housework.

They might also need home nursing services and, as time goes on, palliative care from your local GP, community nursing service, hospice or hospital.

 

Treatment of muscular dystrophies

Although there is no cure for muscular dystrophy, there is plenty that can be done to help manage symptoms, improve quality of life and keep disability to a minimum. Children with muscular dystrophy are often advised to join an early intervention program.  

Ideally, people with muscular dystrophy are managed by a multidisciplinary team that changes in accordance with needs. It will be led by a GP, who can guide the persona and their family through the maze of services. The team might include:

  • medical specialists such as a neurologist, a cardiologist, a respiratory physician, an orthopaedic surgeon and psychiatrist
  • a physiotherapist to help with mobility, treat muscle weakness and help prevent stiffness in the joints
  • an occupational therapist who can help with tasks of daily living and with home modifications, aids and equipment
  • a psychologist, registered counsellor or social worker to help manage the psychological impact of the disease
  • a speech pathologist who can help manage communication and swallowing problems
  • a dietitian who can advise on diet and swallowing problems.
  • A genetic counsellor is also important. Parents can discuss the risk, if any, of any other or future children developing muscular dystrophy. They can find out whether prenatal testing is available if they become pregnant. Subsidised services and care

 

Sources

Muscular Dystrophy Australia (Muscular Dystrophies and MND, DMD genetics, Who is at risk? The purpose of genetic counselling) Muscular Dystrophy Association (Duchenne Muscular dystrophy, Becker Muscular dystrophy, what is Distal muscular dystrophy?,Limb-girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, oculopharyngeal muscular dystrophy) Raising Children Network (Muscular dystrophy).

Last updated November 2017

Ever since she was old enough to understand adult topics, Martina Wonderley has negotiated the health and social welfare systems on behalf of her older brothers who live with significant disabilities.


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