Muscular dystrophy can affect the face and shoulders

Facio-scapulo-humeral (FSH) muscular dystrophy is generally considered more benign (less serious) than other forms of muscular dystrophy. A feature of FSH is that it is usually asymmetrical. This means that some muscle groups on one side of the body are stronger than they are on the other side of the body.

Typical features of this form of muscular dystrophy
Facial appearance
A characteristic facial appearance often develops:

• The eyes appear to be slightly open when the affected person is sleeping. This is due to weakness of eye closure muscles.
• There are less facial lines due to age than usual.
  This characteristic facial appearance is more noticeable when the muscles are in use: for example, during speech.

Shoulders and arms
Muscle weakness may lead to:

• 'Winging' of the scapulae (shoulder blades). The shoulder blades protrude backwards, especially when the arms are held forward.
• Reduced muscle bulk between the shoulder blades.
• Difficulty or inability to raise the arms. Some people first notice a problem in sport, for example, serving at tennis.
• Weakened ability to bend and straighten the elbow. This is due to weakness of the upper arm muscles.

Lower limbs and back
The selective pattern of muscle weakness may include:

• Foot drop due to weakness of muscles in the front of the leg.
• Weakened ability to straighten the hip joints. The knees may also be affected.
• Lordosis (sway back). In severe cases, the abdomen may become protuberant and the shoulders excessively held back.

Eyes and ears
In severe early onset FSH muscular dystrophy, deafness is a frequent problem. Changes also occur in the eyes, although this seldom affects vision. However, people with FSH muscular dystrophy should have their eyes checked regularly.

Difficulties caused by FSH muscular dystrophy
Difficulties include:

• Trouble combing hair, hanging out washing and reaching high shelves due to an inability to raise the arms.
• A tendency to trip due to the foot drop.
• A tendency for one or both knees to give out.
• Difficulty with stairs and steps.

Levels of severity
Those most severely affected by FSH muscular dystrophy are handicapped in infancy or early childhood, and are unable to walk by adolescence or early adulthood. At the other end of the spectrum, even an experienced doctor would find it difficult to tell that a person had the condition.

Progression of the disease
On average, FSH muscular dystrophy progresses slowly and the level of severity eventually seems to plateau (level off). In very mild cases, it may not be possible to detect that the disease is progressing. People affected by FSH of 'average severity' usually retain the ability to walk and have a normal life span.

Where to get help

• Your doctor
• Muscular Dystrophy Association Tel. (03) 9370 0477

Things to remember

• FSH muscular dystrophy is generally considered a more benign form of muscular dystrophy.
• FSH muscular dystrophy usually affects one side of the body more than the other.
• Foot drop and an inability to raise the arms are typical symptoms.

Muscular dystrophy - Duchenne's and Becker types explained

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are often discussed together because they cause similar patterns of weakness and are inherited in the same way.

A gene fault is the cause
The same gene is involved in both Duchenne and Becker muscular dystrophies. A fault in the gene causes a deficiency of a muscle protein called dystrophin.

Duchenne muscular dystrophy usually only affects boys
Duchenne muscular dystrophy is not usually noticeable before the age of two or three. Symptoms and signs include:

• Frequent falls. Difficulty is also experienced rising up from the ground or going up hills or stairs.
• Well developed or excessively large calf muscles. Other muscles are poorly developed.
• A waddling gait.
• A sway-back ('lordosis').
• A tendency to stand and walk on the forefoot, with the heel off the ground. This is often called 'toe-walking'.

Effects on intellectual ability
Intellectual disabilities only affect a minority of boys with Duchenne type muscular dystrophy, but are more common than in other children. The intellect is not affected in Becker type muscular dystrophy.

Duchenne is the most severe form of muscular dystrophy
Duchenne muscular dystrophy can lead to:

• Wheelchair use - generally begins from around nine years of age. Total dependence on a wheelchair occurs around the early teens.
• Restriction of joint motion - for example, joint contractures. The ankles are usually affected first, and the hips and knees last.
• Scoliosis - for example, a sideways curvature of the spine. Corrective surgery is usually required.
• Difficulty breathing - caused by weakness of the muscles associated with breathing. In some cases, mechanically assisted breathing helps in the latter stages of the disorder's progress.
• Heart problems - in a small number of cases, the dystrophic process can affect the heart muscle.
• Early death - most affected people survive into their 20s. Small numbers survive into their teens or reach more than 30 years.

Becker muscular dystrophy (BMD)
Becker muscular dystrophy is less severe than Duchenne muscular dystrophy:

• People with Becker muscular dystrophy can still walk at 16 years. Some can continue to walk until early adulthood or an advanced age.
• Survival may occur anywhere up to middle age. Some affected people have lived to over 80.
• Scoliosis seldom occurs.
• The effect on lung function is less severe.
• Heart trouble is less frequent, although it is occasionally serious.

Early diagnosis is possible
Diagnosis before the age of two or three (before symptoms are very obvious) is possible through:

• A blood test - this will show very high levels of a protein called creatine kinase (CPK).
• A muscle biopsy - removal of a small piece of muscle tissue for examination. This will show if there is a severe dystrophin deficiency.
• Electromyography (EMG) - an examination of muscle activity. It involves inserting a needle into the muscle.

Genetic counselling
Genetic counselling is available to help people understand the hereditary nature of the disorder and the probable risk of them having a dystrophic child. Counsellors can help couples make an informed decision about having children.

There is no cure
There is no cure for Duchenne or Becker muscular dystrophies. To help reduce joint contractures, physiotherapists offer advice on stretches and exercises, and the prescription of orthosis. Occupational therapists also provide advice on sitting positions and activities.

Where to get help

• Your doctor
• Muscular Dystrophy Association Tel. (03) 9370 0477

Things to remember

• Muscular dystrophies are inherited muscle diseases, which lead to progressive weakness.
• Duchenne and Becker muscular dystrophies lead to similar patterns of muscle weakness.
• Duchenne muscular dystrophy is more severe and leads to an earlier death than Becker muscular dystrophy.

Muscular dystrophy explained

Muscular dystrophy is the name given to a group of neuromuscular disorders which cause progressive and selective degeneration and weakness of voluntary muscles. There are approximately 60 separate diseases which can be classed as neuromuscular disorders, all of which involve the progressive and irreversible wasting of muscle tissue.

Neuromuscular diseases are divided into three main groups:

• Dystrophies are characterised by muscle wasting from within the muscles themselves. A person affected by a muscular dystrophy disorder has a mutation within their genetic makeup that prevents the maintenance and repair of muscle tissue.
• Atrophies are characterised by muscle wasting caused by a disorder of the nerve system of the spinal cord, which influences our ability to use muscles effectively.
• Neuropathies are characterised by muscle wasting caused by a disorder of the nerve system within the peripheral parts of the body, which also influences our ability to use muscles.
  People affected by atrophy or neuropathy disorders are unable to use their muscles due to problems associated with their nervous system, rather a problem within than the muscles themselves.

Symptoms and support needs vary
Symptoms of the various neuromuscular disorders often vary. People affected by muscular dystrophy have different degrees of independence, mobility and carer needs. These needs will vary within each disease and between diseases.

Diseases may have different causes
Each of the 60 odd muscular dystrophy diseases has a separate cause. For instance, Duchenne MD is caused by a genetic defect, which results in the body's failure toproduce the dystrophin protein. Friedreich's ataxia is caused by the degeneration of nerve tissue in the spinal cord and of nerves that extend to the peripheral areas, such as the arms and legs.

There is no cure for any of the 60 neuromuscular disorders. Medical research is continuing in the hope of finding a cure. However, the discovery of a cure for one disorder may not necessarily have immediate application in curing another disorder.

Where to get help

• Your doctor
• Muscular Dystrophy Association Tel. (03) 9370 0477

Things to remember

• Muscular dystrophies are inherited muscle diseases, which lead to progressive weakness and irreversible wasting of muscle tissue.
• There is no cure for any of the 60 neuromuscular disorders.
• The symptoms of neuromuscular disorder may be different.

Muscular dystrophy is not just a disease of childhood

Many people think that muscular dystrophy is exclusively a childhood disorder. However, it can occur at any point in a person's life span. There are four types of muscular dystrophy which can onset later in life.

Muscle degeneration leads to increasing weakness
In the more severe forms of the disease, affected people:

• Become confined to a wheelchair
• Are unable to carry out even the simplest of daily activities
• Develop recurrent infections that they cannot fight
• Usually die as a result of respiratory disease. Involvement of the heart muscle may also contribute.
  
  Earlier onset usually leads to more severe disability

There is considerable variation in the severity of muscle degeneration among the various types of muscular dystrophy. Generally, the earlier the clinical signs appear, the more rapid the progression and the more muscles that are involved.

Muscular dystrophy of later life
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy usually occurs in the first to third decades of life and involves:

• The proximal (back of the body) muscles of the pelvis and shoulders
• Slow to fairly rapid progressive muscle deterioration
• A possible normal life span, if the muscle deterioration progresses slowly.

People with this form of muscular dystrophy have generally inherited the defective gene from both parents.

Congenital muscular dystrophy
In this form of muscular dystrophy:

• The most active phase of muscle degeneration occurs before the foetus is born.
• Effects are apparent at birth. Signs include muscle weakness, hypotonia (poor muscle tone) and joint contractures.
• Some improvement occurs in childhood and the disease shows little or no progression.
• Both parents probably carry the defective gene.

Ophthalmoplegic muscular dystrophy
This form of muscular dystrophy:

• Affects the extraocular (eye) muscles and muscles associated with swallowing.
• Usually occurs in adulthood.
• Leads to drooping eyelids.

Distal muscular dystrophy
This is the rarest of the muscular dystrophies, although its incidence is comparatively high in Sweden. It affects the small muscles of the extremities.

No cure but various treatments help
There is no cure for muscular dystrophy but the use of orthopaedic devices and physiotherapy can:

• Keep affected people walking for longer
• Minimise crippling joint contractures
• Prevent or delay scoliosis (curvature of the spine)
• Ease discomfort
• Maximise independence in daily activities.

Where to get help

• Your doctor
• Muscular Dystrophy Association Tel. (03) 9370 0477

Things to remember

• Muscular dystrophy is not just a disease of childhood.
• There are several forms of muscular dystrophy.
• Generally, the earlier the onset of muscular dystrophy, the more severe the disability.

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