Martin Dalby - Aspire Magazine

Supporting Those With,
& Those Affected By,
Myotonic Dystrophy
Myotonic Dystrophy is just one condition that affects
the muscles. The exact cause is unknown however
the genetic change responsible has been identified.
The genetic change (mutation) that causes Myotonic
Dystrophy is in the DMPK gene found on chromosome
19. At one end of the gene is an area where three
of the building blocks of DNA, the genetic material,
CTG are repeated. An unaffected individual will have
5-35 CTG repeats but in an individual with Myotonic
Dystrophy the repeat is unstable and expands. The
extent of the expansion ranges from 50 in a mildly
affected individual to several thousands in a severely
affected individual. This is the basis of genetic tests as
the number of CTG repeats can be counted. Somehow
the CTG repeat changes the DMPK gene and results in
Myotonic Dystrophy. The gene controls the production
of a protein called Myotonic Dystrophy Protein Kinase
which appears to be very important in many systems
of the body.
The Myotonic Dystrophy Support Group (MDSG) is a
registered charity, founded by Margaret Bowler in 1989,
dedicated to offering the hand of friendship and support
to all those affected by Myotonic Dystrophy. Totally run
by volunteers, they have a central Helpline and a network
of regional contacts throughout the United Kingdom, as
well as extensive links abroad. Their mission is ‘to offer
assistance, support and information to those people
affected by Myotonic Dystrophy, their carers’ and families’.
Myotonic Dystrophy is a highly variable condition so it
is difficult to predict how one individual will be affected.
The range of symptoms and severity of symptoms both
vary enormously. Age at onset when the condition first
appears ranges from birth to old age. Although the
disease is highly variable it can be broadly grouped into
four categories:
1. Minimal - Individuals develop symptoms late in life.
Cataracts are often the only symptom or there may also
be mild muscle involvement.
2. Classical or adult onset - This begins in adult life and is
characterised by muscle stiffness and slowly progressive
muscle weakness. Other systems can be involved in
varying degrees.
3. Childhood onset - This begins during childhood, but
with no problems at birth. Like adult onset it can cause
muscle weakness and stiffness, but sometimes it can also
cause learning difficulties, glue ear and eye problems.
4. Congenital Myotonic Dystrophy - This is the most
marked form of the condition and is present from birth.
Babies with this can be quite ill, with breathing and
swallowing difficulties around the time of birth. Children
with it have fewer problems with muscle weakness than
adults, but they can often have problems with learning
difficulties, glue ear and eyes.
Myotonic Dystrophy can also cause:
• Muscle Weakness
• Myotonia - difficulty in relaxing a muscle after it has
been contracted
• Heart Problems
• Chest and Breathing Problems
• Tiredness and Sleepiness
• Digestive Problems
• Eye Problems, such as cataracts
• Speech and Jaw Problems
• Problems with Thinking And Planning
• Male Infertility
• Diabetes
At present, there is no cure for Myotonic Dystrophy
but this may change as a result of rapid progress in our
understanding of how the disorder is caused - meanwhile
all people with Myotonic Dystrophy can help themselves
by knowing about their condition, recognising and
avoiding hazards, and by informing doctors and other
professionals.
Aspire Sales Manager, Stacey Wragg, added: “There are
many ways in which our readers can help MDSG: you
can donate, either as a one-off or as a regular monthly
contribution. Even more conveniently, you can now
donate by text message via Just Giving; just text MDSG02
(space) + Amount to 70070. Alternatively, for a nominal
annual subscription of £15 per family, you can show
your willingness to share in the Group’s concerns. By
doing this, you will receive a regular Newsletter and
information about the latest activities, as well as discounts
on attendance at the Group’s events and products.
Finally you can find your own imaginative way to raise
much-needed funds for the charity – just don’t forget to
tell MDSG about it, and send them a report of how your
effort went, preferably with a photograph that could be
published on the website as well as in the newsletter.”
MDSG are one of eight charities
featured at Aspire’s Winter
Wonderland Charity Auction
(sponsored by Mem-Saab) on Friday
December 7th. Tickets cost just £5
per head and all proceeds raised
will be split evenly between eight
worthy causes. To get your ticket
to this fantastic event, just email
north@aspiremagazinegroup.co.uk
Helpline: 0115 9870080
Website: www.myotonicdystrophysupportgroup.org
Registered Charity No: 1134499