Muscular Dystrophy

This is the name given to a large number of medical conditions.There are also many neuromuscular conditions which, while not called md, are similar to it. What all these have in common is a progressive weakening and wasting of muscles. The Muscular Dystrophy Campaign is the national charity which funds medical research into causes, treatments and cures while providing care, information and advice.
Here the term neuromuscular disorder or the abbreviation nmd is used to refer to all the relevant conditions, some of which are listed at the end.

Who, where and when?

Muscular dystrophy and other neuromuscular disorders are not catching, but anyone can get them.They are usually inherited from a parent or parents through their genes, but sometimes appear out of the blue. They affect babies, children, young people and adults of any race.

About one in every 2,000 people in the UK will have an nmd, but the effects are much wider than that. Relatives may be carrying the faulty genes while not showing any symptoms.


Causes and cures

The main cause is genetic. That is why so much research has already gone into finding which genes are at fault and how they might be repaired. The genetic risks vary. In some types of nmd both the father and mother must have a faulty gene to pass it on. This is called recessive inheritance. In other types, it only needs one parent to pass on a faulty gene. This is called dominant inheritance. In Duchess md the mother usually passes the faulty gene on to her son. This is called x-linked inheritance. Progress in research means that once one member of a family is diagnosed it may be possible to test other relatives to detect carriers, or to carry out a “family studyY

Not all conditions are inherited however. Some conditions are autoimmune. That means the immune system turns inwards to attack targets within the body rather than fighting off external dangers. And there can be a new mutation (or change) in the genes that causes types of nmd to appear for no apparent reason. There is, as yet, no cure, but there are ways of treating the symptoms of some conditions (like myotonia congenita) and there is much that can be done practically to improve life for those affected.

Diagnosis

In the 1950s, when the Muscular Dystrophy Campaign was founded, diagnosis was often difficult or incorrect. Today doctors are much more aware of the different types of md and of other conditions. It is vital for patients and their families to get an accurate diagnosis, as symptoms, severity and special needs will vary greatly. Some nmds are life threatening. Others may be very disabling or
merely cause a mild disability.

Symptoms do not always appear straight away. Muscular dystrophy is mainly progressive. The signs may become more obvious over time. Some symptoms will not show until adulthood. Progress in genetic counselling and diagnosis however is making it much easier to predict which family members may develop the condition over time.

Muscles and what else?

The main characteristic of md is a progressive weakening of muscles. Other parts of the body can also be affected however. Cataracts (a clouding in the eye’s lens) are common in myotonic dystrophy for example. The heart can be affected in several types of md, whether the individual has the condition or is a carrier. Linked symptoms like this provide another reason for ensuring accurate diagnosis by specialists.

Help available

The Muscular Dystrophy Campaign provides practical help for individuals and families with neuromuscular disorders through its network of Family Care Officers, its hospital-based muscle centres, its expert advice on equipment and adaptations, and its information service. The charity can also provide grants towards essential equipment like outdoor electric wheelchairs and special beds.A branch network offers local help and support.

The charity is a leading funder of research into causes and possible treatments and cures. It ensures that teams of scientists in the UK and overseas can concentrate on finding ways of easing, reversing or preventing the conditions. There is still some way to go, but progress in diagnosis, and the existence of genetic counselling, has been made possible by a commitment to research since 1959.The charity has a network of volunteers across the country, who offer support and who raise funds to pay for the work. The Campaign relies almost entirely on voluntary donations.

Muscular dystrophy and other neuromuscular conditions:

Conditions now classed as muscular dystrophy

  • Duchenne md
  • Becker md
  • Emery-Dreifuss dystrophy
  • congenital md
  • limb girdle md (several types)
  • facioscapulohumeral dystrophy (FSH)
  • scapulohumeral dystrophy
  • utosomal recessive childhood dystrophy (like Duchenne md and Becker md)
  • ocularmd
  • oculopharyngeal md
  • myotonic dystrophy

Related neuromuscular conditions include:
  • spinal muscular atrophy (more than one type)
  • Charcot Marie Tooth disease also known as hereditary motor sensory neuropathy (HMSN)
  • autoimmune myopathies
  • myotonic disorders
  • myasthenia gravis

There are around 60 different conditions that come under the umbrella of the Muscular Dystrophy Campaign. These involve muscles and motor nerves, not the central nervous system. The charity’s information service can provide details of these.

Information Courtesy of:
Muscular Dystrophy Campaign

For Further information visit the website
www.muscular-dystrophy.org

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