MUSCULAR DYSTROPHY
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
