Muscular Dystrophy A Guide to parents

Muscular Dystrophy:
A Guide to parents
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Contents
1. Introductory comments ................................................................................... 3
2. The causes of muscular dystrophy ................................................................... 3
3. Diagnosing muscular dystrophy ....................................................................... 4
4. Treatment ......................................................................................................... 5
4.1. General health ........................................................................................... 5
4.2. Physical therapy and exercise .................................................................... 5
4.3. Drug therapy .............................................................................................. 6
4.4. Assisted devices and support aids ............................................................. 6
4.5. Dietary changes ......................................................................................... 6
4.6. Occupational therapy ................................................................................ 6
4.7. Corrective surgery ...................................................................................... 7
5. Emotional support ............................................................................................ 7
5.1. Parents ....................................................................................................... 7
5.2. Siblings ....................................................................................................... 8
5.3. Affected child ............................................................................................. 9
5.4. The school situation ................................................................................. 10
5.5. Socialisation ..............................................................................................10
5.6. Counselling .............................................................................................. 11
6. Conclusion ..................................................................................................... 11
7. Bibliography ................................................................................................... 12

ABOUT THE MUSCULAR DYSTROPHY FOUNDATION OF
SOUTH AFRICA
The Muscular Dystrophy Research Foundation of South Africa was founded in 1974 by
Mr and Mrs Newton Walker of Potchefstroom, who at the time had a son affected with
Duchenne muscular dystrophy. They felt there was a need to reach out to other parents
and families in a similar situation and also to support research into this disease with the
ultimate goal of finding a cure.
Today the Muscular Dystrophy Foundation of South Africa (MDFSA) is a registered
non-profit organisation – Reg. No. 004-152 NPO – consisting of a national office and
three branches (Roodepoort, Cape Town and Durban) which operate in the nine
provinces of South Africa.
The mission of the Foundation is to support people affected by muscular dystrophy
and neuromuscular disorders and endeavour to improve the quality of life of its
members. We assist affected persons and their families by providing access to international
information regarding specific dystrophies, workshops, support groups, referral to
genetic counselling and health facilities, and providing assistive devices when funding is
available. We also strive to keep our members updated via the MDF website, Facebook
page and in-house magazine.
National Office
12 Botes Street, Florida Park
Tel 011 472-9703
Website: www.mdsa.org.za
Facebook: Muscular Dystrophy Foundation of South Africa
Gauteng Branch (Gauteng, Free State, Mpumalanga, Limpopo and North West
12 Botes Street, Florida Park
Tel 011 472-9824
KZN Branch (KwaZulu Natal and part of Eastern Cape)
Office 7, 24 Somtseu Road, Durban
Tel 031 332-0211
Cape Town Branch (Western Cape, Northern Cape and part of Eastern Cape)
3 Wiener Street, Goodwood
Tel 021 592-7306
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1. Introductory comments
Every new day holds promise for children everywhere, even for youngsters affected
with muscular dystrophy. The only difference is that children with muscular dystrophy
cannot do things they enjoy without your assistance, patience and understanding and
an ever-present helping hand. They will be whatever you enable them to be. Your role
will not be easy, but remember that you can find the strength and guidance to care for
them. Parents’ natural grief upon learning that their child has muscular dystrophy can
make it difficult to absorb all the implications at once. It is therefore important to visit
the doctor, counsellor or social worker to discuss the matters of importance to you.
Genetic counselling may also be discussed, especially after the initial implications of the
diagnosis have sunk in.
2. Causes of muscular dystrophy
Muscular dystrophy (pronounced “dis-tro-fee”) is the name given to a group of more
than 70 different neuromuscular disorders causing progressive wasting and weakness
of the muscles. Each type presents differently and with its own levels of severity and
complexity. They are characterised primarily by progressive muscle weakness, leading
to secondary effects such as fatigue, increasingly limited physical activity, impaired
balance and often collapsing. The prognosis varies according to the type of muscular
dystrophy and the speed of progression. Some types are mild and progress very slowly,
allowing normal life expectancy, while others are more severe and result in functional
disability and loss of the ability to walk. Life expectancy may depend on the degree of
muscle weakness and any respiratory or cardiac complications.
These disorders affect about 1 in 1 200 people in the general population, including
children and adults of every race. The disorders are usually inherited, with the
defective gene responsible for the weakening of the muscles being passed on from one
generation to the next. However, muscular dystrophy can also occur in families
where there is no prior history of the condition. Respiratory and cardiac diseases are
common, and some patients may develop a swallowing disorder. Muscular dystrophy is not
contagious and cannot be brought on by injury or activity.
All of the muscular dystrophies result from a mutation in one of the thousands
of genes that program the proteins that are critical for normal muscle health and
development. The body’s cells do not work properly when a protein is altered or produced in
insufficient quantity or sometimes missing completely. Genes are like blueprints: they
contain coded messages that determine a person’s characteristics or traits. They are
arranged along 23 rod-like pairs of chromosomes, with one half of each pair being
inherited from each parent. Each half of a chromosome pair is similar to the other,
except for one pair, which determines the sex of the individual.
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Muscular dystrophies can be inherited in three ways:
• Autosomal dominant inheritance occurs when a child receives a normal gene from
one parent and a defective gene from the other parent.
• Autosomal recessive inheritance means that both parents must carry and pass on
the faulty gene. The parents each have one defective gene but are not affected by
the disorder. Children of either sex can be affected by this pattern of inheritance.
• X-linked (or sex-linked) recessive inheritance occurs when a mother carries the
affected gene on one of her two X chromosomes and passes it to her son (males
always inherit an X chromosome from their mother and a Y chromosome from their
father, while daughters inherit an X chromosome from each parent).
3. Diagnosing muscular dystrophy
Muscular dystrophy is diagnosed through a physical exam, a family medical history, and
tests.
These might include the following:
• Muscle biopsy – Muscle from patients with muscular dystrophy looks different from
normal muscle, when seen under a microscope. The small piece of muscle that is
removed during the biopsy is cut into very thin slices, stained with a series of special
dyes to show the different types of muscle fibres and studied by a pathologist.
• Genetic testing – This looks for genes known to either cause or be associated with
inherited muscle disease. DNA analysis and enzyme assays (measurements of
enzyme activity) can confirm the diagnosis of certain neuromuscular diseases,
including muscular dystrophy. Genetic linkage studies can identify whether a
specific genetic marker on a chromosome and a disease are inherited together.
• Electromyography - When muscles contract (shorten) there is electricity
flowing through the muscle tissue. An abnormal muscle has an abnormal pattern of
electricity that can be recognised and recorded using special equipment. An EMG
test involves putting a small needle through the skin into a muscle and recording
the pattern of electricity in the muscle when it is contracting.
• Blood and enzyme tests – These can detect defective genes and help identify
specific neuromuscular disorders. CK is an enzyme (protein) that is important for
energy production within muscle fibres. If a muscle fibre is damaged by a disease
process such as muscular dystrophy, some of the CK leaks out into the blood.
Normally only a small amount is in the blood, but in muscular dystrophy there may
be 10 to 100 times the normal amount. Very few other disease processes cause
such a high level of CK in the blood.
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4. Treatment
4.1. General health
Your child’s general health is not necessarily affected by their muscular dystrophy
condition, but the following points should be noted:
• Affected children will be very susceptible to colds, which could lead to bronchitis
and pneumonia. This is dangerous as their muscle weakness makes them less able to
cough effectively. If you are worried, call a doctor. Never neglect a cold. Act swiftly.
• It is important to avoid unnecessary bed rest or other forms of immobility, as this
could in fact speed up the weakening of the muscles.
• Obesity is a common and very trying problem. Generally it is due to the inevitable
lack of muscular activity to “burn up” the excess intake. Everybody feels sorry for
affected children, and too many people can think of no better way to express their
feelings than to provide the child with sweets and luxuries. There could be no more
misplaced kindness. Excess weight restricts mobility even more and puts further
strain on the carers. Restrict carbohydrate foods and if possible improve protein
intake. If these habits are followed from an early age, no sudden changes will need to
be made during the early teen years, when other frustrations are already occurring.
• Normal routine immunisations should be carried out. Doctors also recommend the
influenza vaccine annually.
4.2. 4.2. Physical therapy and exercise
Physical therapy and exercise can minimise abnormal or painful positioning of the joints
and prevent or delay deformities such as curvature of the spine. Regular, moderate
exercise can improve movement and muscle strength, help maintain a range of motion,
and keep muscles as flexible and strong as possible. These physical interventions help to
prevent muscle atrophy and delay the development of contractures.
A programme is normally developed to meet the individual’s needs. For example:
• Respiratory care, deep breathing, and coughing exercises may be recommended for
persons with a weakened diaphragm. Coughing and deep breathing exercises are
designed to keep the lungs fully expanded.
• Speech therapy may help those whose facial and throat muscles have weakened.
The affected person can learn to use special communication devices, such as a
computer with voice synthesiser.
• Special exercises together with a special diet and feeding techniques may be
recommended for people who have a swallowing disorder and struggle to convey
food or liquid from the mouth to the stomach.
• Repeated low-frequency bursts of electrical stimulation to the thigh muscles can
produce a slight increase in strength in boys with Duchenne muscular dystrophy.
• Exercise options include passive stretching and postural correction exercises.
Therapy should begin as soon as possible following diagnosis, before there is joint
or muscle tightness.
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4.3. Drug therapy
Sadly there is still no definite cure for muscular dystrophy, although research is
being conducted across the world to understand the disease better and ultimately find
a cure. In some cases of muscular dystrophy, medicine may be prescribed to relieve
symptoms or delay disease progression and muscle degeneration. Corticosteroids such as
prednisone, for example, can slow the rate of muscle deterioration in Duchenne
muscular dystrophy and help children retain strength and prolong independent
walking by as much as several years. Respiratory infections may be treated with
antibiotics. Medications also can be prescribed for some muscular dystrophy -related
heart problems.
4.4. Assistive devices and support aids
Various assistive devices are needed to help maintain mobility and independence
as the physical condition of a person deteriorates. Examples include canes, walkers,
motorised wheelchairs, splints and braces, bath lifts, raised toilet seats, pressure
regulating mattresses, pressure care cushions, ventilators, speech aids, electric patient
hoists, overhead bed bars (trapezes), orthopaedic appliances and other rehabilitative
devices.
Mobility is also linked to accessibility. Building alterations become necessary for this
purpose, such as installing wheelchair ramps at entrances and modifying bathrooms to
accommodate wheelchair manoeuvres.
4.5. Dietary changes
Changes to the diet of those with muscular dystrophy have not been shown to slow
the progression of the disease. Proper nutrition is essential, however, for overall
health. Limited mobility or inactivity resulting from muscle weakness can contribute to
obesity, dehydration and constipation. A high-fibre, high-protein, low-calorie diet
combined with recommended fluid intake may help. Muscular dystrophy patients with
swallowing or breathing disorders and those persons who have lost the ability to walk
independently should be monitored for signs of malnutrition.
4.6. Occupational therapy
Occupational therapy attempts to help people maintain their normal skills and activities
at work or in other spheres. By so doing it can help some people with muscular dystrophy
to deal with progressive weakness and loss of mobility. Some individuals may need to
learn new job skills or new ways to perform tasks, while other persons may need to change
jobs. Assistive technology may include modifications to home and workplace settings
and the use of motorised wheelchairs, wheelchair accessories, and adaptive utensils.

4.7. Corrective surgery
Surgery may be performed to ease complications from muscular dystrophy. Surgery to
reduce the pain and postural imbalance caused by scoliosis may help some patients.
Scoliosis occurs when the muscles that support the spine begin to weaken and can
no longer keep the spine straight. The spinal curve, if too great, can interfere with
breathing and posture, causing pain. Another option is spinal fusion, in which bone is
inserted between the vertebrae in the spine and allowed to grow, fusing the vertebrae
together to increase spinal stability.
5. Emotional support
5.1. Parents
People react to this diagnosis differently. Each has his or her own strengths,
resources, networks and ways of coping. Some may take weeks or months to adjust to the
diagnosis, hoping the terrible prognosis will go away. Others understandably react
with shock, anger and sadness. They may be angry with the doctor who gave them the
diagnosis, angry with their spouse or with themselves. It may take some time
before a family develops its own way of living with a family member who has muscular
dystrophy and is able to deal with the issues this brings. The process of coping is
continuous and will vary over time in response to the changes and needs of the
situation. There will be highs and lows, and as long as the way used to cope by the
family is not self-destructive and does not hurt anyone, then it is appropriate and should
be respected. There is no right or wrong way and each family will find what works for them.
Drawing on their own resources and the support and experience of others can be useful.
The natural inclination of parents is to protect their disabled child from
knowledge of the disorder and from the apparent cruelty of the outside world, but this
could lead to overprotection. This may frustrate the child’s normal impulse towards
independence, especially in early adolescence, and may hamper their ability to
make friends. Friendship both within the family and outside is very important for
the affected person. Parents should not be embarrassed about exposing their
child within the community. In this respect, young disabled adolescents should be
granted the space and independence to test their own emotions, creativity, and
social capability and be encouraged and supported to develop their leadership abilities.
Looking after a disabled youngster is not an easy task and there are more than the
normal share of problems. One parent-made problem is the tendency to be too
anxiously sympathetic. A feeling of self-sufficiency and independence is so necessary for
the child’s mental health. The parent should institute a schedule of everyday activities
– simple things that the child knows they can do with little or no help. They will learn
self-respect that comes from achievement, which is so vital for maintaining an interest
in life.
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This brings us to the point of your own needs. In your devotion to looking
after your disabled child, do not forget your own needs. Try to stay involved
with social, community or other matters of interest to you. Allow yourself short
breaks of a few hours every week. You need time off to retain perspective.
Naturally, at times, feelings of depression could occur within the family, but it is
not common for children who have muscular dystrophy. Parental feelings of guilt
and a tendency to blame oneself is often the reason for depression. The sooner
you rid yourself of this blame the better. Nothing about the situation is your fault.
Plan for the future. Even if you have few assets, it’s important to draw up a will, appoint
guardians, outline your wishes for your affected child’s care, and establish a special
needs trust, in case your child outlives you (Medvescec, 2004).
5.2. Siblings
Because special attention is given to the affected child, other children within the
family may feel jealous. Obviously everyone wishes a disabled child to live the fullest life
possible, and the nature of muscular dystrophy and the deterioration of strength make
more attention and assistance necessary for the affected child. This is not favouritism
but essential care, and this should be carefully explained to the child’s siblings. It is
therefore important to help brothers and sisters realise that they are equally loved and
encourage them to have empathy with the affected child and behave lovingly towards them.
Christina Medvescek (2004) writes as follows about siblings in this situation:
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… the sibling experience isn’t easy, especially as children see their affected brother or
sister decline physically. Sadness, resentment, jealousy, embarrassment, frustration,
guilt and not a little fear — all are part of the story.
Siblings usually have the longest-lasting relationships in a family. It’s not uncommon
for an adult sibling, having outlived the parents, to take on caregiving responsibilities
for an affected brother or sister.
Families that foster a climate of security, belonging, love and caring — all the positives
of a healthy family system — generally have children who cope well with the daily
realities of neuromuscular disease, says Arden Peters, a psychologist… .
But a good family climate can’t guarantee that kids won’t struggle with their
difficult roles. Signs that siblings may be having trouble coping include: greater-than-normal
bickering, anger, jealousy and complaining; acting out at school or home; sleep
disturbances; clinging; and (ironically) overachieving and trying to be “perfect
How do you set a good family climate?
• Be open and honest with children about the disability. “Parents should openly
communicate about the disease process, treatment regime and especially their
feelings,” says Laura Frobel, a social worker… .
When younger children start asking questions about death, they’re ready to begin

talking about it. If older children haven’t asked about death, maybe they’re worried
they’ll cause something bad to happen by bringing it up.
“Children need to know that when parents cry about such things, it’s a sign of love
and the children have done the right thing, not the wrong thing, in talking about
it,” says Peters. …
• Listen. Children don’t always need you to fix things. A sympathetic ear and a hug
can go a long way. Be strong enough to bear their “bad” feelings. Counselling can be
a valuable tool for some children, but non-talkative children may just need to know
they can talk to you if they need to. …
• Treat them as individuals. … Don’t lay on guilt by emphasizing how much luckier
they are than their affected siblings. Find time to connect privately with each child.
Give them private space. Take vacations that cater to their interests, not just built
around hospital visits or physical limitations. Help them connect with a caring adult
who is there just for them. Let overachievers know you love them for who they are,
not what they do.
• Don’t expect children to assume adult roles. Caregiving is a character-building
experience and many siblings say they’ve benefited from it. Too much caregiver
responsibility robs siblings of their growing-up experiences, and can make them
bossy and authoritarian. How much is too much? The key is that the parents remain
in charge, and that they ensure helper siblings get to be kids too.
• Remember they’re young. Even though they understand intellectually that
their siblings with disabilities need more attention, children don’t yet have good
emotional control and often act immaturely. Be patient.
5.3. Affected Child
Very young children will not understand any details of the diagnosis, but those who
are already aware of their problem will welcome an opportunity to discuss what is
happening to them. How much a child should be told depends on their own
curiosity and emotional make-up. Your child’s questions should be a good indicator of
what he or she is ready to hear. As a general rule, do not volunteer disturbing information
needlessly. It is recommended that you are open and honest from the very beginning.
I was officially diagnosed with congenital muscular dystrophy at age 4, but I was
always aware of my disability. I recognised that I was different from my peers – I
was unable to walk, run and climb steps. I also looked different – I was very thin
as a child, I had contractures and scoliosis causing asymmetry of the torso. My
parents told us that I have something called muscular dystrophy, meaning I have
much weaker muscles than other children. At that age, this was enough knowledge
for me. For many years, when other children would ask the inevitable question,
‘what’s wrong with you? ’I would simply answer, ‘I’ve got muscular dystrophy so I
can’t walk like you’.
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It is also important to consider siblings, as they should be included in any discussions
you have as a family. However, refrain from telling siblings more about the condition
than the affected child. Any information you choose to share with your children should
be fair and equal.
Independence and confidence is a very important skill, particularly in coping with a
variety of people and situations. It is therefore important for your child to participate
in activities outside the home. Not only does participation develop independence
and a positive self-image, but the activities themselves provide a wonderful source of
pleasure and enjoyment.
Above all else your child must feel loved and supported by you and your family.
Sometimes the comfort of a loving hug is all the reassurance they want and need.
5.4. Education
Education is important to everyone, including disabled individuals, who have
the same potential as anyone intellectually. Physical challenges at school such as
moving from class to class, climbing stairs and carrying a suitcase should be overcome by
arrangement with the principal, teacher and schoolmates. The presence of
occasional pupils in wheelchairs in any mainstream school may in fact be an advantage to
everyone, giving the affected children the opportunity to live in a regular environment,
and their schoolmates the opportunity to recognise the problems of the disabled.
Special schools for the disabled, however, give them opportunities to see themselves as
only one of a great many disabled people. Another advantage of special schools could
be the services available, such as physiotherapy, nursing supervision and a chance to
learn to use special equipment and techniques to overcome physical difficulties. The
best solution should be sought for each individual child. Often the child will first attend
a mainstream school (the so-called ‘normal’) school, but they should change to a special
needs school before their needs become critical and result in an emergency situation.
As previously mentioned, the diagnosis could reduce life expectancy or result in
functional disability. Despite this prognosis it is important that children do attend
school that provide educational programs to enable them to find meaningful work once
they have left school.
5.5. Socialisation
It is important that your child has contact with a broad range of people for his or her
development. Contact with those who do not have the disorder will help your child to
not feel different, while contact with other children with muscular dystrophy will give
him or her opportunity to be themselves.

A group of children diagnosed with muscular dystrophy can talk about how they feel
and how they deal with certain situations in a way that is different from talking with
their parents. This peer support is invaluable, something which plays a big role in the
life of any teenager or young adult.
5.6. Counselling
Given the demands and challenges of situations they meet, at times a family may find
it useful to seek professional counselling and assistance. This should be thought of as a
positive and constructive action rather than a failure or weakness.
The Muscular Dystrophy Foundation of South Africa will give you as much support
as it can. Join the Foundation and our social work team can provide support in terms
of individual therapy, family therapy, or group therapy; or you can just simply meet
others with similar problems to comfort and advise each other by telephone or through
support group meetings.
6. Conclusion
There cannot, of course, be a single right answer to every problem. Every child’s set of
circumstances is different, and the advice given should be shaped to fit the individual.
But remember that you are not alone with your problem.
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7. Bibliography
Life on the slow lane. Disability & lifestyle blog. http://www.lifeontheslowlane.co.uk/
Medvescek, C. 2004. “The other children in the family”, Quest, January–February 2004,
as excerpted online by the Muscular Dystrophy Association in Learning to live with
neuromuscular disease: A message for parents. https://www.mda.org/sites/default/
files/publications/Learning_to_Live_P-195.pdf
Muscular Dystrophy Association. 2011. Learning to live with neuromuscular disease:
A message for parents. www.mda.org/sites/default/files/publications/Learning_to_
Live_P-195.pdf
Muscular Dystrophy Association / Muscular Dystrophy Australia. 2018. DMD – A guide
for parents. https://www.mda.org.au/wp-content/uploads/2018/07/DMD_A-Guide_
for_Parents.pdf
Muscular Dystrophy Foundation of South Africa. A guide to parents. http://www.mdsa.
org.za
Muscular Dystrophy Foundation of South Africa. 2016. Orientation programme, 30
June. Florida.
PLEASE NOTE
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The treatments and drugs mentioned in this fact sheet are for information purposes
ONLY. Please consult your physician or other health care specialist for information
regarding the use of any of the above.

A heartfelt thank you to FC Robb Charitable Trust for donating the funding to make this
book possible.

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