Download Working with People with Neuromuscular Conditions

For people living with neuromuscular conditions
Mō te hunga whai oranga i te mānuka-uaua
Working with People with
Neuromuscular Conditions
Table of Contents
Preface������������������������������������������������������������������������������������������������������������������������ 1
An Introduction to the Muscular Dystrophy Association of New Zealand ���������������������������� 2
Conditions that MDA Supports���������������������������������������������������������������������������������������� 4
Hospital Admissions ������������������������������������������������������������������������������������������������������ 6
Listening is Key ������������������������������������������������������������������������������������������������������������ 7
Emergency Admissions��������������������������������������������������������������������������������������������������� 8
Medic Alert Bracelets ���������������������������������������������������������������������������������������������������� 8
Planned Admissions ������������������������������������������������������������������������������������������������������ 8
Discharge Planning ������������������������������������������������������������������������������������������������������� 9
Surgical Procedures ������������������������������������������������������������������������������������������������������ 9
Equipment Used by some MDA Members ����������������������������������������������������������������������� 10
BiPaP Machine���������������������������������������������������������������������������������������������������������� 10
Cough Assist Machine ����������������������������������������������������������������������������������������������� 10
Lifting Hoist and Sling ���������������������������������������������������������������������������������������������� 10
Ramps (portable) ���������������������������������������������������������������������������������������������������� 10
Toilet Lifter������������������������������������������������������������������������������������������������������������� 10
Toilet Seat Raiser ���������������������������������������������������������������������������������������������������� 11
Wheelchairs������������������������������������������������������������������������������������������������������������� 11
Walkers (Rollators and Medical Walkers)���������������������������������������������������������������������� 11
Walking Sticks (Canes or Quad Cane) �������������������������������������������������������������������������� 11
How Common are Neuromuscular Conditions? �������������������������������������������������������������� 12
Charcot Marie Tooth (CMT) ���������������������������������������������������������������������������������������� 12
Medication cautions for CMT and Hereditary Neuropathies �������������������������������������������� 12
Common Problems for people with Myotonic Dystrophy������������������������������������������������� 13
Problematic Medications for people with Myotonic Dystrophy ���������������������������������������� 14
Recommendations for Surgery and Anaesthesia������������������������������������������������������������� 14
Recently Published Clinical Care Standards������������������������������������������������������������������� 15
Duchenne Muscular Dystrophy (DMD) �������������������������������������������������������������������������� 15
Duchenne Muscular Dystrophy
Family Guide ���������������������������������������������������������������������������������������������������������� 15
Spinal Muscular Atrophy ������������������������������������������������������������������������������������������� 15
Congenital Muscular Dystrophies�������������������������������������������������������������������������������� 16
Notes������������������������������������������������������������������������������������������������������������������������� 17
www.mda.org.nz
The terms ‘muscle disease’, ‘muscular
dystrophy’, ‘neuromuscular conditions’
and ‘neuromuscular disorders’ all describe
a large group of conditions which affect
either the muscles (skeletal muscles and
/ or involuntary muscles like the heart or
diaphragm), or the nerves which control
the muscles.
There are a number of different types of
neuromuscular conditions and different
conditions affect different muscles. The
severity of conditions and how they affect
individuals can vary greatly from person to
person. Most conditions are progressive,
causing the muscles to gradually weaken
over time. A person’s mobility is affected
and most conditions lead to some sort
of disability.
Neuromuscular conditions can affect babies,
children and adults, both males and females,
and all ethnic groups. Many neuromuscular
www.mda.org.nz
Preface
Preface
conditions are inherited although often there
is no known family history of the disorder.
The Muscular Dystrophy Association of
New Zealand (MDA) provides information,
support and advocacy for people living
with a neuromuscular condition. This
guide has been produced with the input
of MDA members and a number of health
professionals. The key purpose for producing
this booklet is to improve the care of MDA
members in the community, by providing
relevant and useful information for health
professionals of New Zealand in one booklet.
You may not find all of the information that
you need but there are websites and contact
telephone numbers that you can call for
more information, should you require it.
Together we make a great partnership and
provide the best care possible for MDA
members and your patients.
1
An Introduction to the
Muscular Dystrophy Association of New Zealand
The Muscular Dystrophy Association of
New Zealand is a not for profit organisation.
Its mission is “to provide New Zealanders
living with neuromuscular conditions
personal support, information, and to
advocate, influence and promote equality
of opportunity”.
with muscular dystrophy, began to meet at
Sadie McDonald’s home in Dominion Road
in Auckland. In 1959 the association was
formalised and became an incorporated
society with the moniker of The Muscular
Dystrophy Research Group. Ten years later
it renamed itself the Muscular Dystrophy
Association of NZ (inc). In the ensuing years
the MDA has grown and broadened its scope
to support people with other neuromuscular
conditions. In 2008 MDA celebrated its
50th birthday.
It’s estimated there is over 4,000 people
in New Zealand that have a neuromuscular
condition. Neuromuscular conditions can
affect people of all ages, sex and ethnicity.
It should be noted that some of the
conditions can also be
very rare with as few
as only a handful of
people in the whole
Our mission is to provide
of New Zealand with
New Zealanders living with
particular conditions.
neuromuscular conditions
The most common
neuromuscular
personal support and
conditions are
information, and to advocate,
Myotonic Dystrophy,
influence and promote
Charcot-Marie
Tooth and Duchenne
equality of opportunity.
Muscular Dystrophy.
Our organisation has
three branches; with
each branch providing a free professional
Fieldworker service which currently supports
over 1,000 members and their whanau. The
branches are supported by the MDA National
Office which is based in Auckland.
The organisations’ early beginnings were
in 1958 when Moira Gordon, Ann Canty and
Sadie McDonald, who were mothers of boys
2
This booklet will
hopefully give you some
insight into some of
the conditions that our
organisation supports,
our members and their
needs. Unfortunately
we cannot answer all
of your questions in
one small booklet,
but hopefully it will
provide you with some
information and the
contact details of
people that can assist
you with any question that may not be
answered within these pages.
As a not for profit organisation we receive
just 6% of our required income from the
government, the rest of our funding is
provided to us by the people of New Zealand
through donations and grants.
www.mda.org.nz
PO Box 300-429
Albany
North Shore City 0752
Telephone number 09 415 5682
or 0800 636 787
Our Wellington Branch office is located at:
49 Fitzherbert Street
Petone
Lower Hutt
PO Box 33037
Petone
Lower Hutt 5046
Introduction
Our Northern Branch office is located at:
Lion Foundation House
3 William Laurie Place
Albany
North Shore City
Our Canterbury Branch office is located at:
36 Kingsley Street
Sydenham
Christchurch
PO Box 80025
Riccarton
Christchurch 8440
Telephone number 03 377 8010
or 0800 463 222
Our Southern Branch does not have a
branch office; instead it has a dedicated
team of volunteers and a branch committee
that supports its members.
Contact details for the MDA National Office
can be found at the back of this book.
Telephone Number is 04 589 6626
or 0800 886 626
www.mda.org.nz
3
Conditions that MDA Supports
If you have any questions about any of
the conditions listed here or any other
neuromuscular conditions, please contact
the Membership Services Manager at
[email protected] or 0800 800 337.
Here is a detailed list of the
conditions we support;
MUSCULAR DYSTROPHIES:
• Becker Muscular Dystrophy
DISEASES OF THE MOTOR NEURONS:
• Spinal Muscular Atrophy – all types
including
• Type 1 Infantile Progressive Spinal
Muscular Atrophy (Werdnig Hoffman
disease)
• Type 2 - Intermediate Spinal Muscular
Atrophy
• Duchenne Muscular Dystrophy
• Type 3 - Juvenile Spinal Muscular Atrophy
(Kugelberg Welander disease)
• Manifesting carrier of Muscular Dystrophy
• Type 4 - Adult Spinal Muscular Atrophy
• Congenital Muscular Dystrophies and
Congenital Myopathies
• Spinal Bulbar Muscular Atrophy
(Kennedy’s Disease and X-Linked SBMA)
• Distal Muscular Dystrophy
• Emery-Dreifuss Muscular Dystrophy
• Facioscapulohumeral Muscular Dystrophy
• Limb-Girdle Muscular Dystrophy – all
types
• Myotonic Dystrophy
• Oculopharyngeal Muscular Dystrophy
METABOLIC DISEASES OF MUSCLE
– all types including:
• Acid Maltase Deficiency (Pompe’s
disease)
• Debrancher Enzyme Deficiency (Cori’s or
Forbes’ disease)
• Phosphofructose Kinase deficiency
(Tarui’s disease)
• Phosphorylase deficiency (McArdle’s
disease)
INHERITED PERIPHERAL NEUROPATHIES:
• Charcot-Marie-Tooth Disease (CMT) All
types (Hereditary Motor and Sensory
Neuropathy)
• Dejerine-Sottas Disease (also known as
CMT Type 3)
• Hereditary Sensory Neuropathy
INFLAMMATORY MYOPATHIES:
• Dermatomyositis
• Inclusion Body Myositis
• Polymyositis
DISEASES OF THE
NEUROMUSCULAR JUNCTION:
• Congenital Myasthenic Syndrome
• Lambert-Eaton Syndrome
• Myasthenia Gravis
• Mitochondrial myopathies – all types
4
www.mda.org.nz
Conditions that MDA Supports
MYOPATHIES – all types
• Central Core Disease
• Hyperthyroid Myopathy
• Hypothyroid Myopathy
• Inclusion Body Myopathy
• Myotonia Congenita (Thomsen’s Disease
and Becker’s Disease)
• Myotubular Myopathy
• Nemaline Myopathy
• Paramyotonia Congenita
• Periodic Paralysis
INHERITED ATAXIAS – all types
• Friedreich Ataxia (FA)
• Spinocerebellar Ataxias (SCA) All types
HEREDITARY SPASTIC PARAPLEGIAS
– all types
• Familial Spastic Paraparesis
LEUCODYSTROPHIES - all types
PHAKOMATOSES (Conditions affecting the
brain and the skin)
• Neurofibromatosis Type 1
For more information about these individual
conditions have a look at the Muscular
Dystrophy Association’s website where you
will find condition-specific fact sheets and
links to other organisations.
www.mda.org.nz
Please note these are just
some of the conditions
covered, contact the MDA
to find out more or to see
if we can help support your
patients condition.
www.mda.org.nz
5
Hospital Admissions
Patients who have a neuromuscular condition
may have lived with their condition for a long
time and are themselves experts in how to
manage it. They may know what equipment is
helpful to them and the ways of carrying out
certain procedures that work best for them.
When a person is admitted to hospital a full
history of how they usually manage at home,
what equipment aids their independence, and
what is normal for them in terms of functional
ability should be taken.
The Muscular Dystrophy Association of New
Zealand has developed a number of different
fact sheets about neuromuscular conditions
which you can find on the website (www.
mda.org.nz ) and will provide you with more
information about the various conditions.
Things that should be taken into account are
the help they require with personal care and
the issues health professionals need to be aware
of. Things to consider include the patient’s
ability to:
patient’s own powered wheelchair with seat
riser)
• Walk/stand — may need support or may
require a hoist for transfers
• Wash/dress
• Access/use a telephone
• Cough — may need assistance
• Move around the hospital (patients should
be encouraged to bring in their own
wheelchair)
• Other equipment may be of use whilst
a person is in hospital, it may be easier
for them to bring in some of their own
equipment that fits their needs perfectly
rather than get hospital equipment,
discuss this with the person and see if it is
an option.
• Participate in leisure activities that can be
enjoyed whilst in hospital.
Some people may need to use a ventilator,
either only at night or
also during the day —
they should bring their
• Sit up, lie down, or
Patients who have a
own equipment into
turn themselves in
neuromuscular condition may
hospital; the settings
bed unaided
on the ventilator
be experts in how to manage
• Independently
should not be altered
their
condition.
move arms and/or
without speaking to the
legs (increased risk
patient’s respiratory
of pressure areas
team or someone who
developing and of
understands the issues involved.
discomfort as well as loss of functional
The person should be asked who else is normally
ability/risk of development of contractures
involved in delivering their health care and
if not assisted with these movements)
(with the patient’s agreement) contact should
• Early assessment by health professionals
be made with these specialist staff.
may be vital as the provision of pressure
Maintenance of dignity is a major concern.
relieving mattress/cushions may be required
When assisting with personal care, maximising
• Raise hands to mouth and eat/drink
privacy is vital. Discussions should be held
unaided. Food may need to be cut up and
privately whenever possible and should
assistance needed with eating and drinking
involve relatives/care workers only with the
agreement of the patient. The patient must
• Sit unsupported
be fully involved in discussions about discharge
• Get from sitting to standing (a very common
planning. Given the complexity of some
difficulty that can be alleviated by the use
peoples care needs, these discussions need to
of elevating beds, riser armchairs, or the
commence at an early stage of the admission.
• Reach and/or depress
a call bell
6
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A person with neuromuscular condition
could find themselves in hospital due to
an emergency or for elective surgery. In
either instance the admission could be
related to their neuromuscular condition,
or for example due to a fall or respiratory
infection, or to a totally unrelated problem.
Whatever the reason for the admission
the individual’s personal needs require
particularly careful attention otherwise
numerous problems can arise.
Hospital Admissions
Listening is Key
If weight bearing is permitted but the person
is not able to stand unsupported, then a
stand aid can be helpful but it must be one
that allows the patient to stand totally
upright. Involvement of a physiotherapist to
discuss the best methods for transfer if the
current equipment the person utilises is not
effective would be ideal; otherwise they may
not be able to transfer safely.
Patients very often comment that being
in hospital makes them far more disabled
than when they were at home because
For example, those with weak shoulders and
they have none of the
arms will use particular
appropriate equipment
strategies to comb
around. Worse
their hair or clean their
It may also be beneficial to
still unfortunately
teeth as they cannot
sometimes hospital
ask
questions
and
provide
lift their hand to their
staff may not always
head in the normal
people with the opportunity
believe them when
way. The lying or semito ask questions to ensure
they say they can
recumbent position
function more
that they understand what
is often the most
independently at home.
difficult for people
has been communicated.
Ask the occupational
with a muscle condition
therapist to assist in
as they are far more
making patients more
functionally able when
independent and feel
in a chair (with arms) or sitting at a high
more at ease.
table which can support their arms.
When anyone is admitted to hospital and
Getting from sitting to standing is often
spends even just a few days in bed, muscles
a problem. The individual may be unable
weaken. This means that returning to normal
to get out of bed or off a standard height
activity takes time, with people frequently
chair in the usual way and no amount of
surprised at how tired they feel. It is no
assistance, however well intentioned,
different for people with neuromuscular
will make it possible. This renders the
conditions but they face a bigger problem in
person stranded and unable to move
that muscles, once weakened, take longer
about independently.
to recover. In some cases never recover to
Well-meaning staff may think that sliding
their previous strength. This can cause a
transfers could be the answer, but sadly
permanent loss of function and in some cases
this is often also a problem as the shoulder
prevent the person returning home at all.
girdle may be too weak to lift the patients
It is very important that people with
bottom clear of the chair. The next option is
neuromuscular conditions maintain their
hoisting, but this makes the person totally
nutrition, as muscles weaken rapidly
dependent on others. However, given the
without adequate intake. The ability to
correct height chair or riser bed they may be
swallow may also need to be assessed and
able to stand up with little or no assistance.
a referral to the speech language therapist
The occupational therapist should be
may be required, they will assess this
involved to consider the most appropriate
problem and along with the dietician make
adaptive equipment.
recommendations. If you are concerned
www.mda.org.nz
7
about patients nutrition or swallowing and
that the patient may be at risk a referral to
the dietician may be advised.
Remember to communicate in a manner that
they can understand. The terminology used
should strike a balance between being simple
yet not patronising. It may also be beneficial
to ask questions and provide people with the
opportunity to ask questions to ensure that
they understand.
Emergency Admissions
Planned Admissions
With planned admissions it helps if the
individual can visit the ward in advance
and explain their needs to the nursing
staff (if this is appropriate and this
service is available). Many people with a
neuromuscular condition require far more
personal care than those admitted for
the same procedure that do not have a
neuromuscular condition.
Consideration of any specialist equipment
needed is important — can this equipment
be provided? If not, can the patient bring in
their own equipment?
In emergency situations it is vital that
staff listen to the patient and their carers
and, if possible, try
to contact specialist
staff routinely caring
Consideration of any
for the patient.
Potential complications
specialist equipment needed
for a patient with
is important — can this
a neuromuscular
equipment be provided? If
condition include:
If a hoist is required,
are the patient’s own
slings compatible with
the hospital hoist? Is an
electrically operated
bed available?
Is there room for
the patient to bring
not, can the patient bring in
in their wheelchair?
• Possible risks with
Equipment likely to
anaesthetics
their own equipment?
be essential for caring
• Possible cardiac
for patients with
complications
significantly disabling
• Oxygen
neuromuscular disorders includes the
administration may reduce respiratory
following:
drive in hypercapnic patients
• Electrically adjustable high/low beds
• Immobility is likely to be detrimental to
• Electrically operated hoists with choice
their neuromuscular condition
of slings
Patients may be wearing medic alert
• Chairs with high seats, or standard chairs
jewellery or carrying an alert card — and
(with arms) raised on blocks
indeed should be encouraged to do so.
• Stand aids and turning discs
Medic Alert Bracelets
Bracelets and lockets are available from a
variety of sources including:
Medicalert: www.medicalert.co.nz.
MDA members also receive a 20% discount on
medic alert bracelets. Visit the MDA website
www.mda.org.nz to find out more.
8
• Raised toilet seats
• Grab rails in bathrooms
• Shower/toilet chair
Ideally it helps to also have available riser–
recliner armchairs (ones that do not tilt the
user forward) and powered toilet risers.
Wards which regularly care for individuals
with neuromuscular conditions might also
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may be an adverse reaction to the drugs
used in anaesthesia causing a malignant
hyperthermia – like reaction. More common
The person may wish to bring their own
is delayed recovery, and restoration
carer with them. In this case thought needs
of spontaneous ventilation following
to be given as to how they will liaise with
anaesthesia (e.g. in myotonic dystrophy).
the ward staff. Will
Indeed, there are
the carer be able
many examples of
to access meals
the diagnosis of
and accommodation?
It is vital that the surgical
a neuromuscular
team is aware of the
condition only being
made because of such
individual’s neuromuscular
delayed recovery.
condition
Many neuromuscular
conditions are
It is essential that this
associated with cardiac
starts as soon as the
involvement, which
patient is admitted
may be asymptomatic, but ‘revealed’ by the
to minimise any delay in returning home.
stress of anaesthesia and surgery. Detailed
The local specialist team for adults with
assessment by an experienced anaesthetist
disability and/or the intermediate care team
is required before surgery and for elective
should be involved from the start because if
admissions, should be undertaken prior
there is a need for equipment it is unlikely
to admission.
that standard items will be suitable and
there is likely to be a delay in procurement
Surgical intervention, and pre- and
of specialised items.
postoperative complications, in the region of
Admissions, Surgical Procedures and Discharge
aim to have a mobile phone for use; of
course this may not always be available.
Discharge
Planning
Surgical Procedures
It is vital that the surgical team is aware
of the individual’s neuromuscular condition
(and the implications and limitations this
may cause).
the diaphragm are particularly problematic
in those with impaired ventilation, due to
their effects on diaphragmatic function —
e.g. the high morbidity and mortality from
gall bladder surgery in those with myotonic
dystrophy is well recognised.
Particular caution is required with
anaesthetics. In certain conditions there
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9
Equipment Used by some MDA Members
Some of our members use different pieces of
equipment to assist them with their day to
day activities.
BiPaP Machine
BiPaP stands for bi-level positive airway
pressure. It is a breathing apparatus
that helps people get more air into their
lungs. These devices are used to help
treat breathing difficulties, particularly
obstructive sleep apnoea. Sleep apnoea
is a problem in which a person’s upper
airway collapses, causing breathing to
stop temporarily, but repeatedly. Apnoea
sufferers sometimes wake suddenly with a
huge rousing snore. Their quality of sleep
is usually poor and can lead to mental
problems such as depression and lack of
concentration. The physical health of the
sufferer can also deteriorate.
The BiPaP machine allows the air that is
delivered through the mask to be set at
one pressure for inhaling and another for
exhaling. This makes BiPaP much easier for
users to adapt to and also allows people
who have a neuromuscular condition to use
the device. These dual settings also allow
people who use the device to get more air
in and out of the lungs. These machines
must not be adjusted by anyone that has
not been trained to use them as this can be
very dangerous.
10
painlessly clear their lungs. These machines
must not be adjusted by anyone that has not
been trained to use them as this can be very
dangerous
Note: The Muscular Dystrophy Association
of New Zealand’s National Office and
its branches have placed Cough Assist
Machines in some hospitals in New Zealand;
availability of these machines can be
sourced through the MDA National Office
or its branches. Information on the use of
Cough Assist Machines is supplied with all
MDA machines.
Lifting Hoist and Sling
A lifting hoist and sling
is an assistive device
that allows people
in hospital and those
receiving home health
care to be transferred
between a bed and a
chair or other similar
resting places, using
hydraulic power. These lifts may be used for
patients whose mobility is limited.
Ramps (portable)
There are a variety of ramps available to our
members that allow them to access buildings
etc, these are made from either metal or
fibre glass.
Cough Assist Machine
Toilet Lifter
The cough assist machines stimulate a
natural cough. People with neuromuscular
conditions have weakened muscles and its
not just legs and arms that may be weak
but also the respiratory muscles that help
us breathe and cough. As anyone who has
accidentally inhaled a crumb of food or
whose drink has ‘gone down the wrong way’
knows, you have to cough hard to clear
your lungs. Someone with a neuromuscular
condition may not have the muscle strength
to cough effectively enough to clear their
lungs but a cough assist machine stimulates
a natural cough allowing them to easily and
A toilet lifter is
designed to assist
people with weak leg
muscles to stand and
sit unassisted from
a toilet.
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Provides increased
toilet seat height
and clamps onto an
existing toilet seat. It
makes getting down
on to and up from the
toilet easier.
Wheelchairs
People with neuromuscular conditions have
specific needs that constantly change,
sometimes rapidly as their condition
progresses. Mobility is one of the few
areas that with the
appropriate provision,
people can be
fully independent.
Appropriate provision
at the right time can
maximise independence
and delay the onset of
postural deformities.
Delays and incorrect
provision can not
only waste limited budgets but can be
extremely frustrating for the user and can
be detrimental to their health. When looking
to fit a person with a chair it is vital to
look at therapeutic needs, medical issues,
functional abilities, associated equipment
needs and the environment. In addition it
is also important to undertake a holistic
assessment of the users’ lifestyle. Our
members use a variety of wheelchairs from
manual wheelchairs to power wheelchairs;
please ask if you are not sure how a specific
chair operates. The occupational therapist
will be able to assist if you have any
specific requirements.
Walkers (Rollators
and Medical Walkers)
somebody with a mobility condition to
manoeuvre independently. Rollators can give
invaluable assistance to people regardless of
their age. Anybody who may have suffered
from some type of mobility trouble can
easily reap some great benefits of using a
rollator to support with their walking and
moving around. Rollators can be found in a
variety of designs, types and also sizes to
suit personal requirements.
Walking Sticks (Canes or
Quad Cane)
Equipment Used by some MDA Members
Toilet Seat Raiser
These are great for people
with good upper body
strength, and good to fair
lower body strength and only
mild balance problems. Key
benefits are that they are
inexpensive, there is a wide
variety of styles (some canes
fold for easy storage-great
for people with intermittent
weakness or balance problems because they
can be stored virtually anywhere and easily
unfolded when needed). The
drawbacks are that weakness
or dizziness must be mild and
weight limits apply, especially
for folding canes. It should be
noted that a large percentage
of people using canes/walking
sticks are using them incorrectly
and are using the wrong size, if
you think this may be a problem
please refer your patient to
an occupational therapist. The
quad cane has four contact
points that give the user extra
stability. It has the same benefits and
drawbacks as the walking sticks. The key
point of difference it that it does not fold
and can take additional weight.
A walker may also be
known as a rollator.
It’s a piece of walking
apparatus with
connected wheels
which may help
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11
How Common are Neuromuscular Conditions?
Based upon global prevalence rate, there are
approximately 4,382* people in New Zealand
with a neuromuscular condition. The two
most prevalent neuromuscular conditions in
New Zealand are Charcot Marie Tooth and
Myotonic Dystrophy with approximately 767*
and 508* people respectively living with this
condition here in New Zealand.
Medication cautions for CMT and
Hereditary Neuropathies
* Note these figures were correct at the time
this document went to print.
Patients with CMT and Hereditary
Neuropathies and their children should avoid
the medications, substances and medical
procedures in the following categories, as
they have potentially dangerous effects.
New drugs are always being developed and
marketed and it should be noted that this
list may alter with time.
Charcot Marie Tooth (CMT)
* Note these figures were correct at the time
this document went to print.
Charcot-Marie-Tooth disease (CMT) is one
of the most common inherited neuropathic
disorders, affecting approximately 767*
people in New Zealand. The condition
Alcoholism
• Excessive alcohol may worsen
neuropathy symptoms
• Disulfiram (Antabuse)
The two most prevalent
neuromuscular conditions
in New Zealand are Charcot
Marie Tooth and Myotonic
Dystrophy
AIDS
• Nucleosides analogues
Antibiotics
• Chloramphenicol
• Penicilin (Large IV doses)
• Metronidazole
Anti-Arrhythmic
• Procainamide
is named after the three physicians who
first identified the condition in 1886 Jean-Martin Charcot and Pierre Marie in
Paris, France, and Howard Henry Tooth in
Cambridge, England. CMT is also known as
hereditary neuropathy or hereditary motor
and sensory neuropathy (HMSN) or peroneal
muscular atrophy. It comprises a group of
disorders that affect peripheral nerves.
The peripheral nerves lie outside the brain
and spinal cord and supply the muscles and
sensory organs in the limbs. Disorders that
affect the peripheral nerves are also called
peripheral neuropathies.
There are a number of medications that may
aggravate or exacerbate CMT and Hereditary
Neuropathy with liability to Pressure Palsies
(HNPP).
• Propafenone
• Amiodarone (Cordarone)
Anti-Depressants
• Zimeldine
• Lithium
• Zoloft (Setraline)
Anti-Epileptic (Seizures)
• Phenytoin
• Dilantin
Cardiac Conditions anti-anginal
• Perhexiline (Pexid)
Chemotherapy Agents
• Adriamycin
• Bertezomib (Velcade)
• Chloramphenicol
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• Doxorubicin
• Etoposide (VP-16)
• Ifosfamide Nitrous
• Oxide (N2O)
• Interferon-a
• Misomidazole adjunct to radiation
therapy (Metronidazole)
• Suramin
• Taxol (Paclitaxel, Docetaxel)
• Thalidomide
• Vincristine (all Vinca alkaloids)
Dental Anaesthetic (N20)
• Nitrous oxide
Dietary Supplements
(Vitamins and herbal remedies)
• Mega doses of Vitamins A, D, & B6
• Valarian Root
Gout
• Colchicine
Hepatitis C
• Interferon-a
Hypertension
• Hydralazine (Apresoline)
Infections (Vaginal)
• Metronidazole (Flagyl)
Insomnia
• Glutethimide (Doriden)
Leprosy (Hansens Disease)
• Dapsone
Lipid Lowering Agent
• Statins (Lovastatin, Prevastatin,
Simvastatin)
Radiation Therapy
• Misonidazole
Respiratory Disorders
• Almitrine
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Rheumatoid Arthritis
• Gold (Aurothioglucose)
Penicillamine
• Leflumonide (Arava)
Sickle Cell Anemia
• Sodium Cynate
Tuberculosis
• Ethambutol
• Isoniazid
Urinary Tract Infections
• Nitrofurantoin (Furadantin, Macrodatin,
Macrobid)
How Common are Neuromuscular Conditions?
• Cisplatinum (all Platinum analogs)
Common Problems for people with
Myotonic Dystrophy
Myotonic Dystrophy (DM) is an inherited
condition which affects approximately 508*
people in New Zealand. It is abbreviated as
DM as the Latin name for this condition is
‘Dystrophia Myotonica’. In DM, a defective
gene causes progressive muscle wasting and
weakness accompanied by myotonia, which
is the delayed relaxation of muscles after
contraction. It is a multi-systemic disorder,
and affected individuals may have cataracts,
cardiac conduction defects, endocrine
and reproductive problems as well as
hypersomnia (excessive daytime sleepiness)
and antipathy. Primarily the muscles of the
face, neck, hands, forearms and feet are
affected, although DM can have a wide range
of different effects on different individuals.
Respiratory (breathing) muscles can become
weak, affecting the lungs and depriving
the body of oxygen, which can contribute
to individuals with Myotonic Dystrophy
feeling sleepy all the time. Regular sleep
patterns can be helped with medication. To
aid with breathing, a portable ventilator is
commonly used.
Individuals may also experience difficulty
swallowing (dysphagia) and this can lead to
choking. Vomiting can be very dangerous
and sometimes fatal. A head-down position
is crucial to prevent inhaling the vomit.
13
A speech and language therapist can help
people learn to swallow more safely and, if
needed, how to change the consistencies of
foods and liquids so they can be swallowed
more easily.
Abnormalities of the conduction system in
the heart are common and are a major cause
of early mortality. The electrical signal that
keeps the heart beating can get blocked and
cause death. The most common signs are
fainting or dizzy spells and these should not
be ignored. Heart problems can be checked
with an electrocardiogram (ECG); this should
be carried out yearly. Severe problems can
be corrected surgically with the insertion of
a pacemaker.
* Note these figures were correct at the time
this document went to print.
In Myotonic Dystrophy many of the body’s
internal involuntary muscles can weaken
and have myotonia, including the digestive
tract, the uterus and blood vessels. Spasms
and weakness of the upper digestive tract
can impair swallowing as discussed above.
Problems with the lower digestive tract may
result in cramps, constipation or diarrhoea.
Doctors can advise on management. Some
drugs can help move things through the
digestive tract if necessary.
Individuals with Myotonic Dystrophy are at
greater risk of developing gallstones due
to weakening of the gallbladder. Symptoms
are difficulty digesting fatty foods and pain
in the upper right part of the abdomen
and surgery is a possibility to remove
the gallstones.
the disorder. In adults, severe mental
impairment is not very common, but
an overall inability to “settle down to
something,” apply oneself to work or family
life, concentrate or become engrossed in a
task is often reported.
Problematic Medications for people
with Myotonic Dystrophy
• General anaesthesia
• Benzodiazepines
• Quinine, Procainamide, Tocainide
• Liquid Parafin
• Neuroleptics
• Opiates
This list in not exhaustive and caution
is recommended in the use of any
medications which decreases the
metabolism in the cardio/pulmonary or
muscular systems.
Recommendations for Surgery and
Anaesthesia
Patients with Myotonic Dystrophy often
exhibit adverse reactions to sedatives,
anaesthetics and neuromuscular blocking
agents. Serious complications can be
avoided by careful preoperative assessment,
avoidance of certain drugs, careful
monitoring and good post operative patient
care throughout the hospital stay. It is
especially important to monitor the heart
and the respiratory system for ventilatory
function and airway protection post
operatively.
Women with Myotonic Dystrophy may
experience difficulties during pregnancy due
to weakness and myotonia of the uterus.
These may involve excessive bleeding or
ineffective labour. Caesarean section may
be advised.
Blood pressure tends to be low in individuals
with Myotonic Dystrophy; however this does
not usually pose a problem.
As with most aspects of Myotonic Dystrophy,
there is a wide range of severity of the
mental and emotional symptoms of
14
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In the last few years a number of Clinical
Care Standards have been published and
these are listed below. New ones are in
the pipeline to be published, these are for
Pompe and fascioscapulohumeral disease
(FSHD), but at this time we do not have any
specific dates. As soon as we receive them
we will post them on our website and make
them available to all of the professional
bodies in New Zealand.
A major international consensus document
setting out best practice in care for
Duchenne muscular dystrophy (DMD) was
published in the Lancet Neurology journal
in January and February 2010. The product
of an extensive review process by 84
international experts in DMD diagnosis and
care, this document is a unique guide to
expert recommendations on the care that all
individuals with DMD should receive.
Duchenne Muscular Dystrophy (DMD)
You can download a copy from:
www.treat-nmd.eu
Duchenne Muscular Dystrophy affects only
boys (with extremely rare exceptions) and
a problem in this gene is known to result
in a defect in a single important protein
in muscle fibres called dystrophin. Most
affected boys develop the first signs of
difficulty in walking at the age of 1 to 3
years and are usually unable to run or jump
like their peers, they often struggle to climb
stairs and need to use a banister for support.
Rising from the floor can also prove difficult.
Recently Published Clinical Care Standards
Recently Published Clinical Care Standards
Duchenne Muscular Dystrophy
Family Guide
You can download a copy from:
www.treat-nmd.eu along with other
useful guides.
Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a genetic
disease that attacks nerve cells, called
motor neurons, in your spinal cord. These
As the condition progresses boys with DMD
neurons communicate with your voluntary
are unable to walk as far or as fast as
muscles - the ones you can control, like
other children and
in your arms and
may occasionally fall
legs. As you lose
down. By about 8 to
the neurons, your
11 years (rarely earlier
When a new Clinical Care
muscles weaken. This
or a little later) boys
can affect walking,
Standard get’s published we
become unable to
crawling, breathing,
post them on our website,
walk and by their late
swallowing and head
teens or twenties the
www.mda.org.nz
and neck control.
condition is severe
SMA runs in families.
enough to shorten life
Parents usually have
expectancy. There are
no symptoms, but
however many forms of management which
still carry the gene. There are many types
are now available, which have changed
of SMA, and some of them are fatal. Life
the outlook and which we believe in most
expectancy depends on the type you have
cases can help with the complications of the
and how it affects your breathing. For
condition, but at this time there is no cure.
the general population the risk of having
For the general population the risk of having
an affected child is about 1 in every
an affected child is about 1 in every 12,000
100,000 births.
male births.
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15
TREAT-NMD worked with the authors of the
international consensus statement on care
for patients with spinal muscular atrophy
to create useful summary fact sheets
based on the full published document. A
TREAT-NMD working group is continuing to
develop the standards for care on SMA in
areas such as physical and occupational
therapy, orthopaedics, nutrition and
psychosocial implications.
You can download a copy from:
www.treat-nmd.eu
Congenital Muscular Dystrophies
Congenital Myotonic Dystrophy is the early
childhood form of myotonic dystrophy (also
known as Steinert’s disease). Usually in
myotonic dystrophy, the symptoms begin
to show in childhood or later in life, but
symptoms of congenital myotonic dystrophy
are evident from birth. This occurs only
when the mother already has myotonic
dystrophy (although she may not be aware
of this), and she passes the condition on to
the child in a more severe form. Congenital
means ‘from birth’ because the condition
is usually identified at birth or soon after;
myotonic means ‘involving muscle stiffness’;
and dystrophy is ‘muscle wasting and
weakness’. For the general population the
risk of having an affected child is about 1 in
every 20,000 births.
Operations and anaesthetics can be risky.
It is therefore; very important that any
surgeon and anaesthetist should know a child
has congenital myotonic dystrophy before
surgery is planned.
A team of 82 international experts have
published guidelines to help clinicians
deliver consistently high standards of care
to individuals with congenital muscular
dystrophy and their families. The care
standards have now been published in the
Journal of Child Neurology see the link
below:
http://intl-jcn.sagepub.com
The care standards are a guide for clinicians
to help them decide on the care to provide
based on the experience of experts
worldwide. The new guidelines will also
be a valuable tool for people lobbying at a
national level to improve the standards of
care received by people with CMD.
Our website has a number of fact sheets
in relation to a number of neuromuscular
conditions and links to other organisations
that may be of use to you or your patients.
Congenital myotonic dystrophy can vary
considerably in severity from child to child.
If a child is diagnosed with the condition
soon after birth, symptoms are likely to
be severe.
Most infants with congenital myotonic
dystrophy show signs of early developmental
delay. Babies may have difficulties in
breathing, sucking and swallowing and
therefore, in feeding. Muscle weakness may
reduce facial expression and affect speech
pronunciation. Acquisition of other self-care
skills, such as toileting, can also be delayed.
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Notes
Notes
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Notes
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For more information about these and
any other neuromuscular conditions
Please do not hesitate in calling the Muscular Dystrophy Association to
ask any questions and obtain further information.
The Muscular Dystrophy Association of New Zealand National Office:
0800 800 337
www.mda.org.nz
[email protected]
PO Box 16-238, Sandringham, Auckland 1351
This booklet was generously sponsored by The Douglas Charitable Trust
The MDA aims to fund all brochures and promotional
items through grant applications where possible.
The MDA is a registered charity CC31123