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MANAGEMENT OF DUCHENNE
MUSCULAR DYSTROPHY
A guide for families
Contents
1 Introduction 04
2 How to use this document 05
3 Diagnosis 11
4 Neuromuscular management - maintaining strength and function 14
5 Rehabilitation management - physical therapy and occupational therapy 25
6 Orthopedic management - help with bone and joint problems 29
7 Pulmonary management - looking after the breathing muscles 31
8 Cardiac management - looking after the heart 34
9 Gastrointestinal management - nutrition, swallowing
and other gastrointestinal issues 36
10 Psychosocial management - help with behavior and learning 39
11 Considerations for surgery 43
12 Emergency care considerations 46
Abbreviations 48
List of terms that you may come across 49
DISCLAIMER
The information and advice published or made available in this booklet is not intended to
replace the services of a physician, nor does it constitute a physician-patient relationship. This
advice should be taken in conjunction with medical advice from your physician, whom you
should consult in all matters relating to your health, in particular with respect to symptoms that
may require diagnosis or medical attention. Any action on your part in response to the
information provided in this booklet is at your own discretion.
04 05
1 Introduction 2 How to use this document
This guide for families summarizes the results The recommendations are based on an This guide contains a lot of information. You TAKING DMD STEP BY STEP (Figure 1)
of an international consensus on the medical extensive study by 84 international experts in can use it in two different ways. Some families DMD is a condition that changes as time goes
care of Duchenne muscular dystrophy (DMD). DMD diagnosis and care chosen to represent a prefer to concentrate on the stage of DMD by. Physicians and others often recognize key
This effort was supported by the US Centers broad range of specialties. They independently that their child has reached. Others like to stages in the progression of the condition.
for Disease Control and Prevention (CDC), in rated methods of care used in the understand as much as possible about every They use these key stages to guide their
collaboration with patient advocacy groups management of DMD to say how necessary, aspect of DMD from the start. recommendations about care, though these
and the TREAT-NMD network. The main appropriate or inappropriate each one stages can be a rather artificial distinction.
In this section and in Figure 1 you can see how
document is published in Lancet Neurology. was at different stages of the course of DMD. Still, it can be useful to use the stages to
experts think about the different stages of
In total they considered more than 70,000 identify the kind of interventions that are
DMD and how the care needs of someone
different scenarios. This allowed them to recommended at any particular time and
with DMD changes over that time. Then if you
establish guidelines that the majority agreed what you should expect of your care team
REFERENCES FOR THE represented the best practice for DMD care.
want to go directly to the parts of the
at that time.
MAIN DOCUMENT: document which are relevant to you now, you
The experts stressed that the best management should be able to find them easily. At the end
Bushby K, et al. The Diagnosis and
of DMD requires a multidisciplinary approach, of the document, there are two sections that Presymptomatic
Management of Duchenne Muscular
with the input of specialists in many different might be important to have as an easy Most boys with DMD are not diagnosed during
Dystrophy, part 1: diagnosis, and
pharmacological and psychosocial areas, and that there must be a physician or reference: things to remember if surgery is the PRESYMPTOMATIC stage unless there is
management, Lancet Neurology 2010, medical professional that coordinates these planned and things to consider in an a family history of the condition or unless
9(1) 77-93. efforts. Because everybody is different, the emergency situation. We have color-coded blood tests are done for other reasons.
person with DMD and his family should be the different sections to match with the colors Symptoms of delayed walking or delayed
Bushby K, et al. The Diagnosis and
actively engaged with a medical professional in the figure. There is a glossary at the end of speech are present, but are typically subtle
Management of Duchenne Muscular
who will coordinate and individualize the booklet to help you to understand any and are often unnoticed or unrecognized at
Dystrophy, part 2: implementation of
multidisciplinary care, Lancet Neurology clinical care. difficult terms that you find here or that your this stage.
2010, 9(2) 177-189. care team might use.
This document will provide you with basic
The main document can be downloaded information to allow you to participate
free from effectively in this process. The physician or
http://www.treat-nmd.eu/diagnosis-and- medical professional who coordinates care
management-of-DMD/ must be aware of all potential issues in DMD This is a guide to the medical
and must have access to the interventions that aspects of DMD, but always bear
are the foundations for proper care and to
in mind that the medical side isnt
input from different specialties. The emphasis
everything. The idea is that by
of interventions will change over time. This
guide takes you through the different topics minimizing medical problems, your
or domains of DMD care (Figure 1). Not all of son can get on with his life and
these specialists will be needed at all stages of you can get on with being a family.
the condition, but it is important that they are Its good to remember that most
accessible if necessary and that the person Duchenne boys are happy kids and
coordinating care has support in all these areas. most families do very well after the
initial shock of the diagnosis.
Elizabeth Vroom,
United Parent Projects Muscular Dystrophy
06 07
Early ambulatory to check that all immunizations are complete Twice yearly assessments to monitor strength management in this phase (Section 4) whether
and to find out if any risk factors for the side and function are important. Continued started previously and continued into this
In the EARLY AMBULATORY (WALKING) effects of steroids can be anticipated and attention to weight control needs to take into phase or started at this stage.
stage, boys will be showing what are typically minimized. Guidance on weight control for account any tendency to be under or over
regarded as the classical signs of DMD a HEART AND BREATHING MUSCLES:
example might be required. weight with appropriate intervention if there
Gowers maneuver (which means that they Monitoring of cardiac function at yearly
is a problem (Section 9).
need to support themselves with hands on HEART AND BREATHING MUSCLES: Typically, intervals is still essential and any deterioration
thighs as they get up from the floor), waddling problems with the heart and breathing HEART AND BREATHING MUSCLES: From a should be treated promptly (Section 8).
type walking (gait) and walking on their toes. muscles are not likely to be present at this respiratory and cardiac point of view (Sections Respiratory function is likely to begin to decline
They can still climb stairs, but typically bring stage, but surveillance should be built into 7 and 8 respectively), the low risk of obvious after loss of independent walking and a staged
the second foot up to join the first rather than the regular follow-up clinic visits to establish problems remains but ongoing assessment of series of interventions to help with breathing
going foot over foot. the baseline (what is normal for your son). the heart and breathing muscles is necessary. and to aid with coughing needs to be
Cardiac monitoring is recommended at Echocardiogram and other types of tests introduced (Section 7).
These two early stages are the time when the diagnosis and then every two years up to age should be done annually from the age of 10.
diagnostic process is likely to be underway 10. After the age of 10, monitoring should be The physician will recommend interventions
(Section 3). Late non-ambulatory
more frequent. It is also important that the if there are any changes observed on the
DIAGNOSIS: Specific tests will be boy has pneumococcal and influenza echocardiogram. In the LATE NON-AMBULATORY phase,
recommended in order to identify the change vaccinations (Section 7). upper limb function and maintenance of
good posture is increasingly difficult and
in the DNA or genetic mutation that caused Early non-ambulatory
complications are more likely.
DMD. Input from specialists may be needed Late ambulatory
in order to interpret these tests and to discuss In the EARLY NON-AMBULATORY phase the
PHYSICAL THERAPY: It is important to discuss
how the results may impact your son and In the LATE AMBULATORY stage, walking boy needs to use a wheelchair. To start with
with the physical therapist what types of
other family members. becomes increasingly difficult and there are he may be able to wheel the chair himself and
equipment will best support independence
more problems with climbing stairs and typically his posture is still good (Section 5).
LEARNING AND BEHAVIOR: Boys who have and participation. Other adaptations may be
getting up from the floor.
DMD have a higher chance of having problems LEARNING AND BEHAVIOR: Despite the needed to help with activities such as eating,
in these areas. Some are due to the effect LEARNING AND BEHAVIOR: Continued backdrop of the condition progressing, an drinking, toileting and transferring to and
DMD has on the brain, others to physical support from professionals will be necessary increasing emphasis on independence is turning in bed.
limitations. Some medications such as steroids to help with any learning and behavior issues, necessary to encourage normal participation in
STEROIDS: Decisions related to steroid
also play a role. Family support is essential, and specific help may be needed to address school and fun activities through adolescence.
regimens, nutrition and weight management
and input from specialists may be needed to coping strategies for dealing with
PHYSICAL THERAPY: Attention to tightness in are reviewed and discussed with the care
address specific issues of learning and the loss of ability to walk (Section 10).
the upper limbs (shoulders, elbows, wrist and team.
behavior (Section 10). PHYSICAL THERAPY: Rehabilitation input will fingers) becomes very important, as does the
HEART AND BREATHING MUSCLES: Twice
PHYSICAL THERAPY: An introduction to the continue to focus on range of movement and need for supporting equipment to help keep
yearly monitoring of heart and lung function
physical therapy team (Section 5) at this early independence (Section 5). If joint tightness your son standing. Spinal curvature (scoliosis) is
is recommended and often more intensive
stage will mean that exercise regimes can be becomes too much of a problem for physical seen much less often with the widespread use
investigations and interventions may need
introduced gradually to keep muscles supple therapy interventions, assessment and input of steroids, but monitoring for this is still very
to be implemented.
and prevent or minimize tightness at the from orthopedic specialists may be necessary. important following the loss of ambulation.
joints. The physical therapy team can also It is important to make sure that there are In some cases scoliosis progresses quite rapidly, Many young men with DMD live fulfilling
advise on appropriate exercise for school in appropriate wheelchairs with supportive often over a period of months (Section 6). adult lives. It is important to proactively plan
order to support participation. seating to promote continued independence Orthopedic input may also be needed to deal for a life as a supported but independent adult
and comfort. with problems with foot posture which can with all of the opportunities and challenges
STEROIDS: It is a good time to find out about cause pain or discomfort and limit the choice that this entails.
options such as steroids (Section 4) which STEROIDS: Ongoing management of steroid
of footwear.
will be planned for when the boys gaining of treatment is important at this stage, with The following sections deal in turn with the
motor skills starts to level out or plateau. In attention to the specific regime and dose used STEROIDS: Maintenance of steroid treatment ten different domains of care for DMD as
planning for the use of steroids, it is important (Section 4) as well as attention to side effects. continues to be an important part of described in Figure 1.
required at each stage of DMD
The different areas of care
Figure 1
08
Stage 1: Stage 2: Stage 3: Stage 4: Stage 5:
PRESYMPTOMATIC EARLY LATE EARLY NON- LATE NON-
AMBULATORY AMBULATORY AMBULATORY AMBULATORY
May be diagnosed Gowers maneuver Increasingly May be able to Upper limb
at this stage if CK labored gait self-propel for function and
found to be Waddling gait some time postural
elevated by chance Losing ability to maintenance is
May be toe-walking climb stairs and Able to maintain
or if positive increasingly
family history Can climb stairs rise from floor posture limited
May show May develop
developmental scoliosis
delay but no gait
disturbance
Requires diagnostic workup and Likely to be diagnosed by this stage unless delayed
genetic counselling for other reasons (e.g. concomitant pathology) DIAGNOSIS
Normal respiratory
function Increasing risk of
Increasing risk of
Ensure usual resp. impairment
Low risk of respiratory problems resp. impairment PULMONARY
immunization Trigger respiratory MANAGEMENT
schedule including Monitor progress Trigger respiratory
23-valent investigations and
assessments
pneumococcal and interventions
influenza vaccines
Family support,
early assessment/
intervention for Assessment/intervention for learning, behavior and coping Transition planning PSYCHOSOCIAL
development, Promote independence and social development to adult services MANAGEMENT
09
learning and
behavior
10 Figure 2 - Gowers' Maneuver 11
3 Diagnosis
Care at diagnosis When to suspect DMD
The specific cause of a medical disorder is The first suspicions are usually raised by one
called the diagnosis. It is very important to of the following three signs (even when there
establish the exact diagnosis when DMD is is no history of DMD in the family):
suspected by your physician. The aim of care
PROBLEMS WITH MUSCLE FUNCTION: It is
at this time should be to provide an accurate
often a family member who notices something
diagnosis as quickly as possible. With prompt
is wrong. Boys who have DMD walk later than
diagnosis, everyone in the family can be
other boys their own age. They have enlarged
informed about the general course of DMD,
calf muscles and have trouble running,
provided with genetic counseling and told
jumping or climbing stairs. They fall easily and
of treatment options. Appropriate care can
may have a tendency to walk on their toes.
be put in place and ongoing support and
They may also have a speech delay. One of the
education can be provided to the family.
classic signs of DMD is what is known as the
Ideally, diagnosis should be performed by a
Gowers maneuver or sign, where the boy
physician who is a neuromuscular specialist
has to use his hands and arms to walk up his
and who can assess the child clinically and
body in order to push himself to an upright
can initiate and interpret investigations
position. This is due to weakness in the hips
properly. Family follow-up and support
and thigh muscles (see Figure 2).
following diagnosis will often be
supplemented by support from genetic HIGH LEVELS OF THE MUSCLE PROTEIN
counselors. CREATINE KINASE (CK) in a blood test. The
finding of a high CK level should prompt an
urgent referral to a neuromuscular specialist
for confirmation of the diagnosis. High levels
IMPORTANT FACTS TO REMEMBER: of CK are seen in people with other kinds
of muscle conditions and a high CK alone
1. Getting a diagnosis is an important step so
that you and your physician can make plans is not enough to confirm DMD.
for your sons care. HIGH LEVELS OF THE LIVER ENZYMES AST
2. Physicians cannot diagnose DMD using AND ALT in a blood test. High levels of these
only a CK test. If your son has elevated CK enzymes in the blood are often associated
levels, your physician will need to confirm with liver disease, but muscular dystrophies
the diagnosis using genetic testing. can also cause this elevation. Unexpectedly
3. YOU ARE NOT ALONE. Reach out to your high levels of these enzymes without another
physician to answer any questions you may cause should raise the suspicion that the CK
have and seek consultation from a genetic will be high as well and so a diagnosis of
counselor. muscular dystrophy might be suspected.
A liver biopsy is not recommended.
4. This is also a time when contact with a
support group or advocacy organization DELAYED SPEECH DEVELOPMENT: Children
can be of particular help. You can find with DMD often also have some delay in their
lists of contacts at www.treat-nmd.eu/ speech development and sometimes that is the
dmdpatientorganisations
symptom that is first noticed (see Section 10).
12 13
Confirming the diagnosis of DMD information on the amount of dystrophin 3) OTHER TESTS
present in the muscle cells (see Figure 3). In the past, the tests known as
DMD is a genetic disease it is caused by a electromyography (EMG) and nerve
mutation or change in the DNA for a gene If confirmation of the diagnosis has already
conduction studies (needle tests) have been a
called the dystrophin or DMD gene. The been achieved by genetic testing, a muscle
traditional part of the assessment of a child
diagnosis has to be confirmed by genetic biopsy may not be required. However, at some
with a suspected neuromuscular disorder.
testing usually on a blood sample, but other centers, the diagnosis of DMD may be made
The experts agree that these tests are NOT
tests are also sometimes performed as well. by muscle biopsy analysis. Genetic testing
appropriate or necessary for the evaluation
Some background about genetic testing is after a positive biopsy diagnosis of DMD is still
of DMD.
provided in Box 1. essential to determine the specific change in
the DNA or genetic mutation causing DMD.
The tests There are two types of tests normally
1) GENETIC TESTING
performed on a muscle biopsy. They are
immunocytochemistry and immunoblotting
Box 1
Genetic testing is always necessary even if
for dystrophin. These tests are done to
DMD is first confirmed by muscle biopsy.
determine the presence or absence of
Why genetic confirmation is ELIGIBILITY FOR CLINICAL TRIALS: There are a
Different types of genetic tests are able to number of clinical trials underway in DMD that are
dystrophin and can help to distinguish DMD important targeted to certain types of mutations. Genetic
provide specific and more detailed information
from a milder form of the condition. GENETIC COUNSELING AND CARRIER TESTING: testing is important to understand whether your
about the change in the DNA or mutation.
Having genetic confirmation of the diagnosis boy is eligible to participate in these trials. To help
Sometimes the genetic mutation causing DMD
is important for several reasons. It will help physicians find the boys who might be eligible, you
arises by chance in the boy. This is considered a
to determine if the boy may be eligible for a
number of mutation-specific clinical trials and
Figure 3 spontaneous mutation. In other cases, it has
should register in a patient registry.
been passed on by the boys mother. The most important question you need to have
will help the family with decisions related to Muscle biopsy; Left: normal muscle showing
answered is whether the genetic testing
prenatal diagnosis and future pregnancies. dystrophin round the fibres, Right: dystrophic If the mother has the mutation, she is called a
muscle with absent dystrophin. performed was up to currently accepted
carrier, and she can pass the genetic mutation
Once the exact mutation or change in the standards, allowing the exact mutation to be
on to her other children. The boys she passes it
DNA in the dystrophin gene is known, NORMAL DMD defined. If it was not, then further testing might
on to will be affected by DMD, while the girls
mothers should be offered the opportunity be required. You should discuss this with your
will be carriers themselves. If the mother is
for genetic testing to check whether they physician. The exact mutation is also needed to
tested and is found to have the mutation, she
are carriers or not. This information will be register with one of the DMD registries. You can
can make informed decisions about future
important for other female family members find details of the kinds of tests that might be
pregnancies, and her female relatives (sisters,
on the mothers side (sisters, daughters, aunts, done and how effective they are at detecting the
aunts, daughters) can also be tested to see if
cousins) to understand if they may be carriers absolute detail of the mutation in
they are also at risk of having a boy with DMD.
as well. the main document.
Even when a woman is not a carrier, there is a
Genetic testing and a referral to a genetic All of the national patient registries for DMD across
small risk to future pregnancies because the
counselor will help the family understand the the world are listed at:
mutation may occur in her ova or egg cells. This
results of the testing and the potential impact www.treat-nmd.eu/patientregistries.
is called germ line mosaicism.
on other family members (see Box 1). Please see this website for more details.
A carrier also has a small risk of developing a
2) MUSCLE BIOPSY ANALYSIS weak heart or even leg weakness later in life.
Your physician may recommend a muscle Knowing carrier status helps to identify this risk
biopsy (taking a small sample of muscle for so the woman can get proper advice.
analysis). The genetic mutation in DMD
means the body cannot produce the protein You should have access to a genetic counselor
dystrophin, or doesnt produce enough of it. who can explain all this to you in more detail.
Tests on the muscle biopsy can provide
14 15
4 Neuromuscular management - this section. Drug treatments for other specific
symptoms of the disease, such as heart
steroid treatment is started, and varicella
(chicken pox) immunity should be
maintaining strength and function problems, are discussed later. established.
Starting steroid treatment in boys/young
Steroid treatment men who are no longer walking
What assessments should be the condition in a systematic way. Different a step by step guide independently is a matter for individual
done and why scales may be needed at different times. decision and needs to be discussed with
Steroids are used in many other medical
Your son should have regular checkups with ACTIVITIES OF DAILY LIVING: This allows the conditions and there is a lot of experience in the physician, taking into consideration
a specialist physician who has the expertize team to tell if some additional help might be their use worldwide. There is no doubt they the effect of pre-existing risk factors. In
to monitor how things are going and to needed to assist independence. can benefit many boys with DMD but this boys who used steroids when they were
understand if there is anything unusual that benefit needs to be balanced with proactive walking, many experts recommend
might need additional evaluation. This is management of possible side effects. Use of continuation of medication after loss of
important in order to make decisions about IMPORTANT FACTS TO REMEMBER: steroids is very important in DMD and should ambulation. The goal in the non-ambulatory
new treatments at the most appropriate time be discussed with all families early. person is to preserve upper limb strength,
1. Because your son does not have dystrophin,
and to anticipate and prevent problems to the slow the progression of scoliosis, and delay
his muscles will gradually get weaker.
maximum extent possible. It is recommended THE BASICS the decline of respiratory and cardiac
2. Some types of exercise and getting tired Steroids (also called glucocorticoids or function.
that your son sees the physician every
can make muscle damage worse. corticosteroids) are the only drugs known
6 months and the specialist physical therapist
and/or occupational therapist about every 3. The physician understands the progression to slow the decline in muscle strength and
4 months if possible. of muscle weakness and can help your son motor function in DMD. The goal of steroid IMPORTANT FACTS TO REMEMBER:
get ready for the next step. use is to help the child walk independently 1. Steroids are the only medicines known to
Tests used in different clinics to follow for longer to allow enhanced participation
4. It is important for the physician to know help slow down muscle weakness.
individuals with DMD may vary. The most and to later minimize breathing, heart and
how your sons muscles are working so that
important thing is that there is regular review orthopedic problems. They can also reduce 2. Always tell physicians and other healthcare
they can start the right therapy as early as providers that your son is taking steroids.
so that interventions can be properly possible. the risk of scoliosis (curvature of the spine).
monitored. This regular assessment should It is especially important if he is having
include tests that help show how the Prevention and management of steroid surgery or has an infection or injury
side effects needs to be proactive and because steroids can suppress the immune
condition is progressing, including:
Drug treatments for muscle anticipatory. Interventions should be put system.
STRENGTH: Strength may be measured in a symptoms in place EARLY in an effort to prevent 3. Your son should never stop taking steroids
number of different ways to see if the force problems and to make sure they do not suddenly.
that can be generated at specific joints is There is a lot of research happening at the
moment in the area of new drugs for DMD. become severe. Side effects associated with
changing. 4. Your son should have regular visits with
In this document the experts only gave steroid use vary and are listed in Table 1. a physician who is skilled in managing
RANGE OF JOINT MOTION: This is done to recommendations where there is already steroids. The physician will explain possible
STARTING AND STOPPING STEROIDS
monitor if contractures or joint tightening sufficient evidence for a treatment. These side effects and tell you if your son is at risk
The optimal time for starting steroid of developing them.
is developing and to help to guide what recommendations will change in future when treatment is when motor function is in a
stretches or interventions will be most helpful. new evidence (such as the results of clinical plateau phase when the boys motor
TIMED TESTS: Many clinics routinely time trials) becomes available. The guidelines will skills have stopped improving, but have not
activities such as the time to get up off the be reviewed as new results become available. yet started to get worse. This is normally
floor, time to walk a certain distance, and time Although it is expected that in future a wider sometime between the age of 4-6 years. It is
to climb several steps. This gives important range of treatment options will be available, not recommended to start steroids in
information on how the condition is changing at the present time, the only drug treatment children who are still gaining motor skills,
and how it is responding to treatment. for the musculoskeletal symptoms of DMD especially if they are under 2 years of age.
MOTOR FUNCTION SCALES: There are a large that the experts agreed there was sufficient The recommended national vaccination
number of different scales, but your clinic evidence to be able to recommend is steroid schedule should be complete before
should routinely use the same one to monitor treatment. Steroids are discussed in detail in
16 17
Box 2
Doses for starting and In boys on a relatively low dosage of steroids
(less than the starting dose per kg body weight)
maintaining steroids who start to show functional decline, it is
The recommended starting dose of prednisone necessary to consider a functional rescue
is 0.75 mg/kg/day and that of deflazacort is adjustment. The dosage of steroids is increased
0.9 mg/kg/day, given in the morning. Some to the target and the individual is then re-
children experience short-lived behavioral side evaluated for any benefit in approximately two
effects (hyperactivity, mood swings) for a few to three months.
hours after the medication is given. For these
There is no consensus on the optimal steroid
children, administration of the medication in
dosage if initiated in the non-ambulatory
the afternoon may alleviate some of these
individual. Nor is it known how effective
difficulties.
steroid treatment is in preventing scoliosis or in
For ambulatory individuals, the dosage is stabilizing cardiac or respiratory function in this
commonly increased as the child grows until he setting. This issue warrants further study.
reaches approximately 40 kg in weight. The
maximum dose of prednisone is usually capped
at approximately 30 mg/day, and that of
deflazacort at 36 mg/day.
Cushingoid features Fullness in the face and cheeks Careful monitoring of diet and Immune / adrenal Be aware of risk of serious Obtain chicken pox immunization
(moon face) becomes more noticeable over restricting sugar and salt intake suppression infection and the need to promptly prior to starting steroid therapy; if
time. will help with weight gain and address minor infections. not done seek medical advice if in
may minimize Cushingoid features. contact with chicken pox.
Inform all medical personnel that
the child is on steroids, and carry If there is a regional problem with
Excessive growth of hair Clinical examination. This is not usually severe enough steroid alert card. TB, there may need to be specific
on the body (hirsutism) to warrant a change in medication. surveillance.
Ensure that the steroid is not
stopped abruptly. Discuss with your physician how
you would cope if there was a
Acne, Tinea, Warts More noticeable in teenagers. Use specific treatments (topical It is very important that someone
break in taking steroids, for
prescription) and do not rush to on chronic steroids does not miss
example substituting prednisone
change the steroid regimen unless their dose for more than 24 hours
equivalent if deflazacort is
there is emotional distress. at the most, especially if they are
temporarily unavailable, or how
also unwell.
you might need IV coverage during
Growth retardation Monitor height at least every 6 Ask if your son is concerned about illness or fasting.
months as part of general care his short stature. If so, you should
(height tends to be small in DMD discuss with your physician if he Discuss use of intravenous (IV)
even without steroid treatment.) needs an endocrine check up. stress dose methylprednisolone
coverage for surgery or major
illness.
Give IV coverage if fasting.
22 23
STEROID SIDE EFFECT COMMENT AND RECOMMENDED POINTS FOR YOU TO THINK ABOUT AND STEROID SIDE EFFECT COMMENT AND RECOMMENDED POINTS FOR YOU TO THINK ABOUT AND
MONITORING TO DISCUSS WITH YOUR PHYSICIAN MONITORING TO DISCUSS WITH YOUR PHYSICIAN
Hypertension Monitor blood pressure (BP) at If BP is elevated, reducing salt Bone demineralization Take careful fracture history. Vitamin D supplements may be
each clinic visit intake and weight reduction can be and increased fracture needed depending on level in
useful first steps. Yearly DEXA to monitor bone
risk blood. Recheck vitamin D level
density.
again after 3 months on therapy.
If ineffective, your physician will
need to consider possible ACE or Yearly vitamin D blood level
Weight-bearing activities can be
beta-blocker medication. (ideally late winter in seasonal
helpful.
climates) and supplement with
vitamin D3 if levels are low. Make sure that calcium intake is
Glucose intolerance Test urine for glucose with dipstick Blood tests may be needed if urine good in the diet and if not
test at clinic visits. tests are positive. Dietician assesses calcium and
supplements may be needed.
vitamin D intake.
Enquire about increased passage of
urine or increased thirst.
Myoglobinuria Enquire about abnormal coloration Avoid vigorous exercise and
of urine after exercise urine eccentric exercises, such as
Gastritis/ Look out for reflux symptoms Avoid non-steroidal anti (Urine looks coca-cola
testing. running downhill or trampolining.
gastresophageal reflux (heartburn). inflammatory drugs (NSAIDs) - such colored because it
as aspirin, ibuprofen, naproxen. contains breakdown Good fluid intake is important.
products of muscle
Drugs and antacid can be used if Kidney investigations are needed if
proteins. This needs to
symptoms occur. it carries on.
be tested for in a
hospital lab.)
Peptic ulcer disease Report symptoms of stomach pain Avoid NSAIDs (aspirin, ibuprofen,
as this can be a sign of damage to naproxen).
the lining of the stomach.
Drugs and antacid can be used if
Stool can be checked for blood if symptomatic.
anemic or suggestive history.
Seek gastrointestinal consultation.
People with DMD need access to different There are many factors in DMD that
types of rehabilitation management contribute to the tendency for joints to get
throughout their lives. Much of this will tight or contracted. These include the
be delivered by physical therapists and muscle becoming less elastic due to limited
occupational therapists, but other people use and positioning or because the muscles
may also need to help, including rehabilitation around a joint are out of balance (one stronger
specialists, orthotists, providers of than another). Maintaining good range of
wheelchairs and other seating. Orthopedic movement and symmetry at different joints
surgeons may also be involved. is important. This helps to maintain the best
possible function, prevent the development
Management of muscle extensibility
of fixed deformities, and prevent pressure
and joint contractures is a key part of
problems with the skin.
rehabilitation management.
The goal of stretching is to preserve
function and maintain comfort. The program
of stretching will be monitored by the
physical therapist but needs to become part
of the familys daily routine.
26 27
With time, arm strength becomes more
MDA: www.mda.org
PPMD: www.parentprojectmd.org
TREAT-NMD: www.treat-nmd.eu
UPPMD: www.uppmd.org