LIVING WITH DUCHENNE MUSCULAR DYSTROPHY

LIVING WITH DUCHENNE MUSCULAR DYSTROPHY2018-04-23T00:20:49+00:00

CARE CONSIDERATIONS

On January 24, 2018, the updated Care Considerations for Duchenne were published in The Lancet Neurology. They were first published in 2010, but there have been significant advances in Duchenne research and clinical care and so they were updated by an international collaboration and published in 3 parts aimed at Dr’s and nurses and is aimed at an academic level so you can feel overwhelmed by these large documents.  There will be a family-friendly version of these documents released later in 2018 so we will keep you posted when they are available here on our website and via our Facebook page.

Part 1 Duchenne Care Considerations 2018

Part 2 Duchenne Care Considerations 2018

Part 3 Duchenne Care Considerations 2018

CARDIAC CARE

Cardiac care refers to the care of the heart, and his page contains the recommended standards of care, for both males and females with Duchenne muscular dystrophy, and also Becker muscular dystrophy. Improved cardiac surveillance and care has significantly improved quality and length of life.

The recommendations are to be used in collaboration with your cardiologist and health care providers.

Check your heart regularly – it is recommended that people with Duchenne have a heart ‘check-up’ every year, starting from the time of diagnosis. These become more frequent as the person with Duchenne gets older, or on the recommendation of their cardiologist.

Across Australia there are still some differences in the timing of the cardiac appointments. These are the international recommendations that are considered ‘best practice’.

After diagnosis, an appointment should be arranged with the cardiologist. This is a referral from your neurologist, commonly to the cardiologist that manages the children with Duchenne. As diagnosis is often between the ages of 4 to 6, your neurologist may not suggest that your child has a check-up with the cardiologist until they are 6, but it is important to ask. At this appointment, an ECG and then an echo will be performed as a ‘baseline’, which means the reports are used to refer back to see if anything has changed.
It is recommended to have a cardiac review every year until the child turns 10, unless otherwise recommended by the cardiologist. These tests include the ECG, Echo and/or cardiac MRI.
As the child gets older, or if any of the results from the ECG, echo or cardiac MRI are abnormal, then it will be recommended to have a cardiology review every 6 months. At this time, your child’s heart specialist will consider starting heart medications. Your child may not have any heart symptoms but the medications are used to protect the heart from damage.

It is recommended that before surgery a person with Duchenne should always have an ECG, it may also be requested to have an echocardiogram or cardiac MRI repeated, if you are having general anaesthesia or had abnormal tests. The cardiologist and or the anaesthetic doctors will discuss this with you.

Medications for the heart are most commonly started before there are any problems. This is called ‘prophylactic’, which means that the medication or treatment is given with the aim of preventing the problem. Other heart medications may be added; as your child gets older.

There are three main ‘types’ of heart drugs that are used in Duchenne, these include:

  • ACE-Inhibitors and Angiotensin receptor blockers. This group of medications make the blood vessels open wider, this helps the heart by making it easier for the heart to pump, and get the blood around the body.
  • Beta-blockers help the heart to relax, so it beats more slowly and efficiently.
  • Diuretics help the body remove excess water, so that there is less blood volume for the heart to pump.

Because we know that cardiac disease develops long before symptoms, many doctors will commence therapy early. ACE inhibitors are recommended from the age of nine. Some centres start even earlier. Beta-blockers were usually prescribed in older teens but Dr John Bourke (2010) recommends that beta-blockers should start two weeks after ACE inhibitors.

Heart ‘check-ups’ should include:

An ECG (electrocardiogram) is standard at your cardiac appointments.

In addition to the ECG, either an echo (echocardiogram) or a cardiac MRI (magnetic resonance imaging).

There is an additional test that your cardiologist may request which is a portable ECG known as a ‘Holter monitor’. This is a machine that is worn over a 24-hour period. Like an ECG the Holter monitor records the heart rhythm (how your heart pumps) and records your pulse (the rate that your heart beats) over a 24-hour period, while you go about your normal activities.

RESPIRATORY CARE

Respiratory care is about looking after the breathing muscles. It is also sometimes referred to as ‘pulmonary management’. Usually, boys (and rare girls) with Duchenne do not have trouble breathing or coughing while they are still walking. However, as they get older breathing muscles gradually get weaker and they are at risk of chest infections due to an ineffective cough. Later they develop problems with breathing at night and eventually they will also need help during the day.


A proactive approach to respiratory care, with regular monitoring and early intervention, gives considerable benefits for quality and length of life. Respiratory physicians/pulmonologists and respiratory physiotherapists are important members of the multi-disciplinary team looking after those with Duchenne.

Young children in the early stage learn deep breathing techniques to help with ventilation and cough. Swimming and diving games encourage deep breathing without conscious effort. Swimming and aquatic physiotherapy are recommended.

Respiratory infections should be treated aggressively and early; antibiotics and physiotherapy may be needed. Asthma should be treated with decongestants and bronchodilators. Avoid cough suppressants.

In the late ambulatory stage, children are not quite so active. Full expansion of the lungs is not achieved but by taking steroids they can often still record excellent respiratory results.

Biannual spirometory assessment and additional techniques to expand the chest-wall and assist coughing are needed after peak cough flow falls below 270L/min. Teaching manual techniques is recommended as airway clearance will begin to be affected.

In the late ambulatory stages manually assisted cough, breath stacking, hyperinflation using an Ambu bag or cough assist machine twice a day is recommended. Discuss this with your doctor and/or physiotherapist.

NON-INVASIVE NIGHT TIME VENTILATION

Help with breathing at night will be offered when sleep studies show that it is needed. This is called ‘non-invasive nocturnal ventilation’ and involves a nasal or facemask attached to bi-pap machine. This improves both quality of life and length of life.

Monitoring should be performed regularly by a centre with experience with Duchenne to determine the best time to start night time ventilation. Typically, when FVC (forced vital capacity) falls below 60% of predicted for height and age, sleep-disordered breathing occurs and regular sleep studies are recommended. At 40% predicted capacity, function tests are performed four times a year and biannual sleep studies are recommended.

Some signs of trouble breathing at night include:

  • Fatigue – waking up still tired in the morning
  • Sleep disturbance – waking during the night
  • Nightmares
  • Headaches when waking in the morning
  • Poor concentration and disorientation
  • Depression, anxiety
  • Loss of appetite
  • Softened voice
  • An unproductive cough

If any of these symptoms are noticed a sleep study should be scheduled sooner than planned. Sometimes none of these symptoms are experienced despite hypoventilation at night, so monitoring should still be performed regularly.

Keep a copy of your child’s latest breathing tests to show any doctor who takes care of him.

NON-INVASIVE DAY TIME VENTILATION

Extended periods using the bi-pap machine and/or respiratory anxiety throughout the day means that daytime ventilation should be commenced. As with most treatments, we recommend that this is commenced earlier rather than later.

Young people with Duchenne experience a huge number of medical and quality of life benefits once their ventilation is stabilised, including: elevated mood, improved appetite, weight gain, greater access to the community, improved speech, improved social interactions, improvements in heart function etc.

Mechanical volume ventilation through a sip mouthpiece, nosepiece or facemask are possible. Sip mouthpiece ventilation is the least invasive and the portable ventilator is attached to the wheelchair and a mouthpiece may be mounted on a gooseneck or preferably a halter to make it constantly accessible to the user.

A reminder that if your son’s oxygen level drops when he is ill or injured, oxygen should not be given without monitoring the carbon dioxide levels, as it depresses the respiratory drive and results in a build-up of carbon dioxide. Breathing may need to be supported (with BiPAP, for example) and assisted coughing (with a cough assist machine or Ambu bag) may help.

Take your equipment (cough assist, BiPAP, etc.) with you to the hospital/emergency room and alert your neuromuscular team that you are going to the ER/hospital.

People with Duchenne should never be given inhaled anaesthesia or the drug succinylcholine.

PHYSIOTHERAPY 

To maintain functional ability for as long as possible. Minimise the development of contractures and deformity. To anticipate and minimise other secondary complications including respiratory decline and spinal curvature.

  • Stretches are important in all stages of the disease.
  • Strong strengthening exercises should not be a part of therapy programs in Duchenne, as it will hasten the degeneration in muscle.
  • Some active exercise is essential for maintaining health and wellbeing and to prevent wasting of muscle due to disuse.
  • Water-based exercise and non-weight bearing exercises become increasingly important as the condition progresses.
  • Minimise eccentric exercise, as it is known to damage muscle fibres.
  • Minimise long arduous walking, stairs, slopes and squatting activities where possible.
  • Stretches are best performed after a warm up activity like a warm bath or massage. Make the stretches part of the daily routine.

CONTRACTURE STRETCHING

Contractures are a tightening of the muscle and tendons, which limit the full range of movement in a joint. This tightness occurs because not all muscles lose strength at the same time or pace, and in Duchenne, they can develop irregular postures to compensate for this uneven weakness.

Ensuring that joints are moved regularly through their full range, with gentle pressure at the end of the range, minimises the risk of contractures.

  • The pattern of weakness and tightness is very predictable in Duchenne, and your therapist will provide an appropriate stretching program to be performed either at home or school. Parents’ commitment to a regular daily stretching program will bring their son the best results and maintain his flexibility.

    A regular stretching routine, to keep muscles and tendons supple, should be part of a daily routine in order to help prevent the development of contractures.

    Aquatic physiotherapy (or hydrotherapy) is the best exercise for those with Duchenne, at all ages and stages.

THERAPY AND EQUIPMENT

The therapy and equipment required by those with Duchenne will vary greatly depending on the stage that they are at.

We have compiled Frequently Asked Questions factsheets for each stage for you to download:

  • The early stage of Duchenne (diagnosis to approximately age 10) when still walking strongly
  • The transition stage of Duchenne (approximately age 7 to early teenage years) when walking is becoming difficult
  • The mid-teens onwards after loss of ambulation

CARDIAC CARE

Cardiac care refers to the care of the heart, and his page contains the recommended standards of care, for both males and females with Duchenne muscular dystrophy, and also Becker muscular dystrophy. Improved cardiac surveillance and care has significantly improved quality and length of life.

The recommendations are to be used in collaboration with your cardiologist and health care providers.

Check your heart regularly – it is recommended that people with Duchenne have a heart ‘check-up’ every year, starting from the time of diagnosis. These become more frequent as the person with Duchenne gets older, or on the recommendation of their cardiologist.

Across Australia there are still some differences in the timing of the cardiac appointments. These are the international recommendations that are considered ‘best practice’.

After diagnosis, an appointment should be arranged with the cardiologist. This is a referral from your neurologist, commonly to the cardiologist that manages the children with Duchenne. As diagnosis is often between the ages of 4 to 6, your neurologist may not suggest that your child has a check-up with the cardiologist until they are 6, but it is important to ask. At this appointment, an ECG and then an echo will be performed as a ‘baseline’, which means the reports are used to refer back to see if anything has changed.
It is recommended to have a cardiac review every year until the child turns 10, unless otherwise recommended by the cardiologist. These tests include the ECG, Echo and/or cardiac MRI.
As the child gets older, or if any of the results from the ECG, echo or cardiac MRI are abnormal, then it will be recommended to have a cardiology review every 6 months. At this time, your child’s heart specialist will consider starting heart medications. Your child may not have any heart symptoms but the medications are used to protect the heart from damage.

It is recommended that before surgery a person with Duchenne should always have an ECG, it may also be requested to have an echocardiogram or cardiac MRI repeated, if you are having general anaesthesia or had abnormal tests. The cardiologist and or the anaesthetic doctors will discuss this with you.

Medications for the heart are most commonly started before there are any problems. This is called ‘prophylactic’, which means that the medication or treatment is given with the aim of preventing the problem. Other heart medications may be added; as your child gets older.

There are three main ‘types’ of heart drugs that are used in Duchenne, these include:

  • ACE-Inhibitors and Angiotensin receptor blockers. This group of medications make the blood vessels open wider, this helps the heart by making it easier for the heart to pump, and get the blood around the body.
  • Beta-blockers help the heart to relax, so it beats more slowly and efficiently.
  • Diuretics help the body remove excess water, so that there is less blood volume for the heart to pump.

Because we know that cardiac disease develops long before symptoms, many doctors will commence therapy early. ACE inhibitors are recommended from the age of nine. Some centres start even earlier. Beta-blockers were usually prescribed in older teens but Dr John Bourke (2010) recommends that beta-blockers should start two weeks after ACE inhibitors.

Heart ‘check-ups’ should include:

An ECG (electrocardiogram) is standard at your cardiac appointments.

In addition to the ECG, either an echo (echocardiogram) or a cardiac MRI (magnetic resonance imaging).

There is an additional test that your cardiologist may request which is a portable ECG known as a ‘Holter monitor’. This is a machine that is worn over a 24-hour period. Like an ECG the Holter monitor records the heart rhythm (how your heart pumps) and records your pulse (the rate that your heart beats) over a 24-hour period, while you go about your normal activities.

RESPIRATORY CARE

Respiratory care is about looking after the breathing muscles. It is also sometimes referred to as ‘pulmonary management’. Usually, boys (and rare girls) with Duchenne do not have trouble breathing or coughing while they are still walking. However, as they get older breathing muscles gradually get weaker and they are at risk of chest infections due to an ineffective cough. Later they develop problems with breathing at night and eventually they will also need help during the day.


A proactive approach to respiratory care, with regular monitoring and early intervention, gives considerable benefits for quality and length of life. Respiratory physicians/pulmonologists and respiratory physiotherapists are important members of the multi-disciplinary team looking after those with Duchenne.

Young children in the early stage learn deep breathing techniques to help with ventilation and cough. Swimming and diving games encourage deep breathing without conscious effort. Swimming and aquatic physiotherapy are recommended.

Respiratory infections should be treated aggressively and early; antibiotics and physiotherapy may be needed. Asthma should be treated with decongestants and bronchodilators. Avoid cough suppressants.

In the late ambulatory stage, children are not quite so active. Full expansion of the lungs is not achieved but by taking steroids they can often still record excellent respiratory results.

Biannual spirometory assessment and additional techniques to expand the chest-wall and assist coughing are needed after peak cough flow falls below 270L/min. Teaching manual techniques is recommended as airway clearance will begin to be affected.

In the late ambulatory stages manually assisted cough, breath stacking, hyperinflation using an Ambu bag or cough assist machine twice a day is recommended. Discuss this with your doctor and/or physiotherapist.

NON-INVASIVE NIGHT TIME VENTILATION

Help with breathing at night will be offered when sleep studies show that it is needed. This is called ‘non-invasive nocturnal ventilation’ and involves a nasal or facemask attached to bi-pap machine. This improves both quality of life and length of life.

Monitoring should be performed regularly by a centre with experience with Duchenne to determine the best time to start night time ventilation. Typically, when FVC (forced vital capacity) falls below 60% of predicted for height and age, sleep-disordered breathing occurs and regular sleep studies are recommended. At 40% predicted capacity, function tests are performed four times a year and biannual sleep studies are recommended.

Some signs of trouble breathing at night include:

  • Fatigue – waking up still tired in the morning
  • Sleep disturbance – waking during the night
  • Nightmares
  • Headaches when waking in the morning
  • Poor concentration and disorientation
  • Depression, anxiety
  • Loss of appetite
  • Softened voice
  • An unproductive cough

If any of these symptoms are noticed a sleep study should be scheduled sooner than planned. Sometimes none of these symptoms are experienced despite hypoventilation at night, so monitoring should still be performed regularly.

Keep a copy of your child’s latest breathing tests to show any doctor who takes care of him.

NON-INVASIVE DAY TIME VENTILATION

Extended periods using the bi-pap machine and/or respiratory anxiety throughout the day means that daytime ventilation should be commenced. As with most treatments, we recommend that this is commenced earlier rather than later.

Young people with Duchenne experience a huge number of medical and quality of life benefits once their ventilation is stabilised, including: elevated mood, improved appetite, weight gain, greater access to the community, improved speech, improved social interactions, improvements in heart function etc.

Mechanical volume ventilation through a sip mouthpiece, nosepiece or facemask are possible. Sip mouthpiece ventilation is the least invasive and the portable ventilator is attached to the wheelchair and a mouthpiece may be mounted on a gooseneck or preferably a halter to make it constantly accessible to the user.

A reminder that if your son’s oxygen level drops when he is ill or injured, oxygen should not be given without monitoring the carbon dioxide levels, as it depresses the respiratory drive and results in a build-up of carbon dioxide. Breathing may need to be supported (with BiPAP, for example) and assisted coughing (with a cough assist machine or Ambu bag) may help.

Take your equipment (cough assist, BiPAP, etc.) with you to the hospital/emergency room and alert your neuromuscular team that you are going to the ER/hospital.

People with Duchenne should never be given inhaled anaesthesia or the drug succinylcholine.

PHYSIOTHERAPY 

To maintain functional ability for as long as possible. Minimise the development of contractures and deformity. To anticipate and minimise other secondary complications including respiratory decline and spinal curvature.

  • Stretches are important in all stages of the disease.
  • Strong strengthening exercises should not be a part of therapy programs in Duchenne, as it will hasten the degeneration in muscle.
  • Some active exercise is essential for maintaining health and wellbeing and to prevent wasting of muscle due to disuse.
  • Water-based exercise and non-weight bearing exercises become increasingly important as the condition progresses.
  • Minimise eccentric exercise, as it is known to damage muscle fibres.
  • Minimise long arduous walking, stairs, slopes and squatting activities where possible.
  • Stretches are best performed after a warm up activity like a warm bath or massage. Make the stretches part of the daily routine.

CONTRACTURE STRETCHING

Contractures are a tightening of the muscle and tendons, which limit the full range of movement in a joint. This tightness occurs because not all muscles lose strength at the same time or pace, and in Duchenne, they can develop irregular postures to compensate for this uneven weakness.

Ensuring that joints are moved regularly through their full range, with gentle pressure at the end of the range, minimises the risk of contractures.

  • The pattern of weakness and tightness is very predictable in Duchenne, and your therapist will provide an appropriate stretching program to be performed either at home or school. Parents’ commitment to a regular daily stretching program will bring their son the best results and maintain his flexibility.

    A regular stretching routine, to keep muscles and tendons supple, should be part of a daily routine in order to help prevent the development of contractures.

    Aquatic physiotherapy (or hydrotherapy) is the best exercise for those with Duchenne, at all ages and stages.

THERAPY AND EQUIPMENT

The therapy and equipment required by those with Duchenne will vary greatly depending on the stage that they are at.

We have compiled Frequently Asked Questions factsheets for each stage for you to download:

  • The early stage of Duchenne (diagnosis to approximately age 10) when still walking strongly
  • The transition stage of Duchenne (approximately age 7 to early teenage years) when walking is becoming difficult
  • The mid-teens onwards after loss of ambulation

FOR MORE INFORMATION PLEASE CONTACT US

While the internet can be a source of good information, it can also be a source of inaccurate and misleading information and false hope. 

READ MORE

FOR MORE INFORMATION PLEASE CONTACT US

While the internet can be a source of good information, it can also be a source of inaccurate and misleading information and false hope. 

READ MORE