Why respiratory care is important

Neuromuscular conditions cause muscle weakness, which can also affect the muscles used for breathing and coughing. For some people, breathing problems develop slowly over months or years. Other people might have a sudden change in their breathing ability following a cold or chest infection. Your neuromuscular condition can affect your breathing in the following ways:

• Weakness in the breathing muscles makes it harder to expand your lungs and get enough oxygen for your body and brain
• A weak cough makes it hard to keep your airways (breathing tubes) and lungs clear and increases the risk of chest infections
• Under ventilation or under breathing when you are sleeping. Breathing muscles relax during sleep and each breath becomes smaller so the oxygen level in the body goes down. If the breathing muscles are already very weak, your oxygen levels might drop to a very low level (nocturnal hypoventilation) or you might stop breathing for short periods (obstructive sleep apnoea)
• Weakness of the swallowing muscles can lead to food or drinks going down the wrong way into your lungs and increasing the risk of chest infections
• Difficulty doing activities that encourage deep breathing, for example, exercise and swimming, singing and playing a wind instrument.
• Scoliosis (a curved spine) makes it harder for you to fully expand your lungs and chest.

Who develops respiratory problems and at what age

Weakness of the breathing muscles is common in many neuromuscular conditions. But the age at which respiratory problems develop, their severity and how quickly they progress varies enormously between different conditions, and even between people with the same condition.

As a general guide:

• Breathing difficulties can arise shortly after birth in children with severe Type 1 Spinal Muscular Atrophy and during the first few months of life in some other myopathies
• Individuals with Congenital Muscular Dystrophy or Type 2 Spinal Muscular Atrophy may run into breathing problems in childhood.
• Young men with Duchenne Muscular Dystrophy tend to develop symptoms of nocturnal hypoventilation aged 15-20 years, and
• Respiratory muscle involvement in conditions such as Limb-Girdle Muscular Dystrophy and acid maltase deficiency may not occur until adulthood.

(Source: Making Breathing Easier from Muscular Dystrophy UK)

Your respiratory care team

There are many health professionals who might be involved in your respiratory care, including:

• Your usual doctors and specialists
• Respiratory physicians/pulmonologists/sleep medicine specialists (doctors who specialise in treating conditions affecting breathing)
• Respiratory physiotherapists (physiotherapists who specialise in treatments to improve the function of your lungs)
• Respiratory/lung function laboratories, where you might have tests of your lung function.

What are the symptoms of respiratory problems?

There are signs of breathing problems that you can look out for, including:

• Morning headaches
• Tiredness and sleepiness in the daytime
• Breathlessness or feeling short of breath
• Speaking more softly
• Disturbed sleep
• Noisy or erratic breathing during sleep
• Sweating at night
• Poor concentration
• Slow recovery from colds, more frequent chest infections
• Loss of appetite, feeling breathless when eating or drinking
• Weak cough
• Failure to thrive or gain weight in young children and babies.

Talk to your doctor or specialist if you start noticing any of these symptoms.

What tests will I need?

There are several different types of tests that can be used to monitor your breathing:

• Lung function tests (also called respiratory function tests) measure how well your lungs work. You will be asked to breathe through a mouthpiece that is connected to the lung function test equipment. The tests are usually repeated several times to ensure the results are accurate. During testing, you may be required to take big breaths in and out, blow out as hard and fast as possible or hold your breath for a few seconds. Examples of lung function tests include:
  • Spirometry (measures your overall lung function)
  • Peak flow (measures the maximum speed at which you can blow air out)
  • Vital capacity and forced vital capacity (measures the amount of air you can breathe out)
• Pulsed oximetry to measure oxygen saturation levels with a fingertip sensor. This can easily be done at home.
• Sleep studies allow doctors to monitor you while you sleep to see what's happening in your brain and body. For this test, you will go to a sleep laboratory that is set up for overnight stays. While you sleep, doctors measure things such as eye movements, oxygen levels in your blood (through skin sensors), heart and breathing rates, snoring, and body movements.

Depending on your condition and how it’s progressing, you may have regular lung function tests to monitor your breathing. This can vary from every couple of years to several times a year. Your doctor will recommend how often these need to be done.

What treatments are used?

There are many different techniques and treatments your respiratory care team may use to help your breathing:

• Staying as active as possible: swimming and diving games, hydrotherapy and other forms of exercise, singing and playing wind instruments all help to encourage deep breathing and filling your lungs with air
• Early treatment of coughs and chest infections with antibiotics and chest physiotherapy
• Keeping up to date with immunisations, such as influenza (flu) and pneumonia vaccinations
• Steroid treatment for children with Duchenne Muscular Dystrophy
• Chest physiotherapy, involving a variety of individually prescribed evidence based treatments and exercise (with or without devices) to help optimise lung volumes, loosen and move mucous, particularly to prevent or manage an infection
• Non-invasive ventilation if you need support for your breathing during the day or night. This involves wearing a nose or face mask which is attached to a BiPAP machine or other type of ventilator.
• Cough assist machine. For people with weak breathing muscles, a cough assist machine simulates a natural cough and help you clear secretions and mucous from your airways and lungs
• Invasive ventilation, involving a tube inserted into your airway.

Your respiratory care team will recommend the right treatments for you to help support and manage your breathing to maximise your quality of life.

Ventilation support

People with some forms of neuromuscular conditions may need support for their breathing. Depending on your breathing, ventilation support might be used only during sleep, during the daytime or for a short period when recovering from a chest infection or surgery. Starting on ventilation is often a difficult decision and it’s normal to feel scared, uncertain or in denial.

Ventilation can be provided in two ways:

• Non-invasive, meaning ventilation is provided without a breathing tube. This usually involves a mask that fits over your nose and/or mouth and is attached to a small portable device that pumps air into the lungs to expand them.
• Via a tracheostomy, where a breathing tube is inserted into the trachea (windpipe).

There are various options for the types of ventilators and how they work, masks and equipment available, and how and when to use ventilation. Your doctor and healthcare team will help guide you through the decision-making process to help you find the right ventilation support for you. Your state or territory neuromuscular organisation is also an excellent source of information and support and you might also find it helpful to connect with other people living with conditions needing ventilation support in The Loop Community.

Non-invasive ventilation

Non-invasive ventilation is used if you need support for your breathing during the day or night. This involves wearing a nose or face mask which is attached to a BiPAP machine or other types of ventilator.

Night-time ventilation

Many neuromuscular diseases are characterised by weakness in the breathing muscles, resulting in progressive respiratory failure. This initially affects people during sleep but can lead to breathing problems during the day. Noninvasive ventilation (NIV) at night is the initial line of treatment for respiratory failure in neuromuscular disease. This normalises gas exchange during sleep and, initially, will also correct daytime gas exchange (Source: Nardi J, Leroux K, Orlikowski D, Prigent H, Lofaso F. Home monitoring of daytime mouthpiece ventilation effectiveness in patients with neuromuscular disease. Chronic Respir Dis. 2016;13(1):67–74. doi: 10.1177/1479972315619575).

Day time ventilation

When symptoms of respiratory failure continue in the daytime despite NIV, people with neuromuscular conditions can receive daytime breathing support using mouthpiece ventilation (MPV) and a portable ventilator.

CPAP versus BiPAP

For the general population, continuous positive airway pressure (CPAP) is commonly prescribed for obstructive sleep apnoeas. CPAP blows in a continuous flow of air at a set pressure when you are breathing in and breathing out. This keeps the airway from collapsing and obstructing breathing.

But CPAP often isn’t appropriate for people whose problem is caused by weak breathing muscles. The constant inward flow of air causes the weakened muscles to have to work harder to exhale against the airflow. In those cases, bilevel positive airway pressure ventilation, typically called BiPAP, is more commonly used. (BiPAP is a registered trademark of Respironics.) You can read more about the use and misuse of CPAP in neuromuscular conditions in the article by Michel Toussaint in the section below.

BiPAP is different from CPAP as it provides airflow at different pressures during inhalation and exhalation. During inhalation air blows in at a higher pressure level and then at a lower (or zero) pressure on exhalation.

In neuromuscular diseases, the BiPAP “span,” or difference between the inhalation and exhalation airflow pressures is typically high to provide greater support during breathing in and little or no resistance when breathing out.

Because sleep-breathing problems can be an effect of neuromuscular diseases, it’s important to seek help at the first symptoms of underventilation.

Be sure to consult an experienced, certified sleep specialist who knows which therapeutic solutions are appropriate and safe for people with neuromuscular disease.

(Source: Breathe Easy from the Muscular Dystrophy Association US)

For more information about ventilation

• Managing Patient Breathing with Mouthpiece Ventilation webinar. Dr John R. Bach discusses non-invasive (mouthpiece ventilation) versus invasive (tracheostomy tube) treatments.

Cough assistance

Some of the muscles you use in breathing are needed for coughing. Weakness in the breathing muscles may also affect the strength and effectiveness of your cough. A weak cough makes it difficult to clear secretions from your lungs and airways, increasing the risk of serious chest infections.

A simple way to increase the effectiveness of your cough is with manual (hands on) assistance. A physiotherapist can teach a family member, caregiver or support worker how to press on your upper abdomen, just beneath the ribs, as you cough.

Ambu bags (resuscitator bags) ensure good lung inflation to recruit lung volume, prior to clearing your airways. It can be used regularly, in the absence of mucous secretions. It supports breath stacking, where progressive breath intakes are taken without exhaling. In this way, the maximum insufflation capacity is increased Manual assisted coughing techniques can be combined with the ambu bag to assist mucous clearance.

Cough assist machines simulate a natural cough when the cough muscles are severely weakened, helping the person to clear secretions. It works by first delivering a large volume of air to the airway and then quickly reversing the air flow, which helps to pull out secretions.

Another type of machine that may be used is the Intrapulmonary Percussive Ventilator. It is a physiotherapy tool for clearing mucous from the airways. It provides small fast bursts of air that loosen and mobilise secretions.

Your doctor, physiotherapist or other members of your healthcare team can provide information about cough assist machines and how to use them. Your state or territory neuromuscular organisation can also provide information about how to access cough assist machines in your area.

Source: Montrose Access: Duchenne Muscular Dystrophy: A Team Approach to Management. 2011. Funded by NSO (Specialists: Disability Support in Schools)