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Breathing
and Pompe
disease
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pompe
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The primary function of the respiratory system is to take oxygen
into the body and remove carbon dioxide. This exchange of gases
in the lungs is vital to ensure the body functions well.
The diaphragm plays a major role in the respiratory system
The diaphragm
The diaphragm
plays aplays
majorarole
major
in role
the respiratory
in the respiratory
systemsystem
The diaphragm,
a adome-shaped
muscle
located
just
below
The diaphragm,
The diaphragm,
dome-shaped
a dome-shaped
muscle located
muscle
located
just below
justthe
below
lungs,
thehelps
lungs,control
helps breathing.
control
breathing.the lungs, helps control breathing.
INHALE
EXHALE
Nose Nose
Nose Nose
Voice box
Voice box
Mouth Mouth
Windpipe
Windpipe
Lungs Lungs
Diaphragm
Diaphragm
When
youin,
breath
in, the diaphragm
contracts
When you
breath
the diaphragm
contracts
When you breathe
in, the
diaphragm
anddownwards,
moves
downwards,
allowing
the contracts
lungs
and moves
allowing
the lungs
fill up
with oxygen.
to fill uptowith
oxygen.
and moves downwards,
allowing the lungs t o
fill up with oxygen.
A weakened diaphragm
Breathing problems in Pompe are generally
caused by the weakening of the diaphragm
and other respiratory muscles. A weakened
diaphragm makes it hard to breathe in
deeply, so you may not get enough air
into your lungs. This leads to respiratory
insufficiency, when the lungs cannot take
in enough oxygen or expel enough carbon
dioxide to meet the needs of the body.
Mouth Mouth
Lungs Lungs
Voice box
Voice box
Windpipe
Windpipe
Diaphragm
Diaphragm
When
youout,
breath
the diaphragm
you
breath
the out,
diaphragm
relaxes relaxes
When When
you
breathe
out,
the
diaphragm
and
moves upwards,
pushing
out
carbon dioxide relaxes
and
moves
upwards,
pushing
out
carbon
dioxide
from
your
lungs.
from
your
lungs.
and moves upwards, pushing out carbon
dioxide from your lungs.
Pompe can weaken the muscles involved
,
in breathing, including the diaphragm
leading to respiratory insufficiency.
help
Therapy and support are available to
t
manage breathing problems and preven
complications from developing.
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pompe
T h e im p a c t o f
b re a t h in g p ro b l e m s
Breathing difficulties Low lung volumes
can lead to a number When it is hard to breathe
deeply enough to fill your lungs
of problems, which
with sufficient oxygen, you may
can affect your daily
find yourself lacking energy and
life and result in sleep running out of breath easily.
disturbances.
Impaired cough
Weak respiratory muscles can
make it difficult to cough strongly
enough to clear mucus of out of
your lungs. Secretions that remain
can increase the risk of infections
such as bronchitis or pneumonia.
Speech difficulties
If you have difficulties breathing,
it can affect your ability to
speak properly as you may find
yourself having to pause between
sentences to breathe. If you find
yourself having problems talking,
contact your doctor who will be
able to refer you to a Speech and
Language Therapist (SaLT).
ociated with breathing
Becoming aware of the symptoms ass
you take steps to manage
problems caused by Pompe can help
lthcare team if you
them. Speak to a member of your hea
.
experience any of the above problems
Carbon dioxide retention
When too little carbon dioxide
is removed from the lungs, it
can build up in the bloodstream.
This can cause restless sleep,
nightmares, morning headaches,
daytime sleepiness and general
feelings of tiredness.
Sleep disturbances
People with Pompe may
experience short pauses in
breathing during sleep, a
condition called sleep apnoea.
These pauses occur repeatedly
throughout the night, resulting in
fragmented sleep. You may not
realise what is disturbing your
sleep, so a sleep study (where
you are monitored while sleeping)
may be required to observe if you
are suffering from sleep apnoea.
The main types of sleep apnoea
are obstructive sleep apnoea
(when the throat muscles relax
and block the airway) and central
sleep apnoea (when the brain
fails to send proper signals to the
muscles involved in breathing).
Symptoms typically include loud
snoring, followed by choking
or gasping noises. People with
Pompe may experience either
form of sleep apnoea.
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Therapy and supportive care
Getting the right therapy and support can help ease your symptoms,
improve your quality of life and prevent serious complications from
occurring. A number of options are available – your healthcare team will
be able to advise you on the most appropriate care for your condition.
Respiratory therapy
Preventing infections
Ventilators
You may be referred to a
physiotherapist, who will advise
you as to appropriate exercises
which may improve your muscle
strength and fitness levels.
A physiotherapist could also
recommend and demonstrate
specific techniques to improve
how you clear your lungs to
minimise the risk of infection.
Being unable to clear your
lungs effectively can make you
more susceptible to infections.
This means that a cold can
easily develop into something
more serious like pneumonia
or bronchitis. Promptly treating
any infections that occur can
reduce the risk of this happening.
Keeping up-to-date with all the
recommended vaccinations can
also help you stay healthy.
Ventilators can greatly improve
your quality of life, by supplying
enough oxygen to your lungs
to support your day-to-day
activities and help you get a
good night’s sleep.
Cough assist
If you have a weak cough,
manual or mechanical (via a
cough assist machine) assistance
is available to help stimulate
a cough that can clear your
airways of any secretions. Your
doctor will be able to discuss this
in greater detail with you.
Weak swallowing muscles
can also increase the risk of
choking, when foods or liquids
are accidentally inhaled into
the lungs. If you find yourself
having problems eating, consider
choosing foods that are easier
to swallow, and contact your
doctor who will be able to refer
you to a Speech and Language
Therapist (SaLT).
If you experience breathing
problems, your doctor may
recommend the use of a
non-invasive BiPAP ventilator (Bilevel Positive Airway Pressure).
This can be used during the night
to help with sleep apnoea, and
can also help during the day if
required. Air is delivered from
the ventilator via a mask fitted
over the nose and/or mouth.
Alternatively, a nasal pillow
(small, flexible cushioned discs
inserted into or around the nose)
may offer greater comfort and
feel less obtrusive than a face
mask.
e – you may find you only require
Ventilation needs may change over tim
it
as Pompe progresses, you may need
ventilation at night while sleeping, but
may seem troublesome and scary at
during the day as well. Using ventilators
by
can greatly improve your quality of life
first, but they are often portable and
increasing your endurance.
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n
io
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n
co
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Mo
Regular monitoring of your condition is important
and your doctor will normally assess your respiratory
function at each visit.
When you first display breathing problems, your doctor
will do an assessment of your condition, measuring
exercise tolerance, strength of respiratory muscles,
effectiveness of cough and respiratory rate. He or she
will also ask you about other symptoms you may be
experiencing, such as sleep disturbances, shortness
of breath and headaches.
As your condition progresses,
your doctor may use one or
more of the following tests to
assess your condition:
•• Forced Vital Capacity (FVC) test: determines
your lung function
•• Peak Cough Flow (PCF): measures strength
of your cough
•• Oxygen saturation level: measures the
amount of oxygen in your blood
•• Detailed sleep study: to observe any
sleep disturbances
•• Chest X-ray: to determine the presence
of any infections
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Resources
Association for Glycogen Storage Disease UK (AGSD-UK)
www.agsd.org.uk
Telephone: 01489 877991
Useful source for information on treatment, research news, national Pompe
events, links to who to contact for help and other support resources (eg
GSDNet – electronic mailing list for affected families).
International Pompe Association (IPA)
www.worldpompe.org
Leaflets covering a range of different topics relating to Pompe (including
breathing problems) are available for download in over 10 languages.
This information was provided by Genzyme to improve the understanding of Pompe disease. We would like to thank Allan Muir and
Joan Fletcher from the AGSD-UK, Dr Tracey Willis and Ana Amado
Fondo for all their contributions.
Genzyme Therapeutics Ltd, 4620 Kingsgate, Cascade Way,
Oxford Business Park South, Oxford OX4 2SU. Tel: 01865 405 200.
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Date of preparation: April 2014 | Job code: MYOZ-UK-4/14-4949