Muscular Dystrophy in Children (Duchenne)

There are several types of muscular dystrophy. Duchenne muscular dystrophy is the most common form, and also the most severe.

In this article:

What is Duchenne muscular dystrophy?

Symptoms

Causes

Diagnosis

Effect on your life

Treatment

Advice & Support

What is Duchenne muscular dystrophy?
Duchenne muscular dystrophy is a muscle-weakening condition which, over time, leads to progressive disability.

The condition generally affects boys and develops between the ages of one and three.

Symptoms
Symptoms of Duchenne muscular dystrophy include:

Muscle weakness in the legs and upper arms (this can range from mild to severe)

Thinning of the muscles

Tightness of joints

Delayed development in a child (with the condition). For example: the child may not begin to walk at the same age as other children their age, but later.

Heart problems (in some, but not all cases)

Muscle aches and pains

Learning difficulties

Gradual curvature of the spine

Causes
Duchenne muscular dystrophy is caused by having a faulty gene. This can be an inherited condition (i.e the gene abnormality is already in the family and has been passed down). However, not all people with Duchenne muscular dystrophy develop the condition due to having a genetic predisposition. Often, the gene abnormality will be only particular to them within a family.

With Duchenne muscular dystrophy, the affected individual’s muscle fibres fail to work because the human gene which controls the protein responsible for muscle fibre creation/functionality is faulty in some way. This then causes the aforementioned symptoms to develop.

Diagnosis
To attain a confirmed diagnosis of Duchenne muscular dystrophy, a blood test will be carried out. Also, a sample of muscle tissue may be removed for testing (this is called a biopsy). Where these tests prove inconclusive, your child may be referred to your local hospital for further tests (an MRI scan, CT scan and/or a chest X-Ray).

Effect on your life
Children with Duchenne muscular dystrophy will usually need the aid of a wheelchair from the age of twelve. Prior to this they will have difficulty standing, walking and climbing stairs.

Treatment
Despite worldwide medical research, there is no cure for Duchenne muscular dystrophy. However a range of treatments are available which are intended to help better manage the condition. These include:

Prescribed steroids – to maintain muscle strength.

Physical aids – to aid standing, walking and general movement. Most parents opt for callipers or leg splints for their child.

Physical therapy – this usually involves physiotherapy (where the improved flexibility and overall condition of your child’s muscles is worked upon).

Surgery to the spine – this is aimed towards correcting any curvature of the spine which has developed as an associated condition of developing Duchenne muscular dystrophy.

Advice & Support
Muscular Dystrophy Campaign
Tel: 0800 652 6352
Website: www.muscular-dystrophy.org

Action Duchenne
Tel: 0208 556 9955
Website: www.actionduchenne.org


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