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:


Shoulders and arms
Muscle weakness may lead to:


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


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:

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

Things to remember

 

 

 

 

 

 

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:


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:


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


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

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


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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:

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.

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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:

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:

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:


Ophthalmoplegic muscular dystrophy
This form of muscular dystrophy:

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:


Where to get help


Things to remember

 

KAYNAK:

http://www.betterhealth.vic.gov.au/bhcv2/bhclang.nsf/(LevelOne)/Turkish?opendocument

 

 

ANASAYFAYA DÍN