The essentials of management of muscular dystrophies
Dr. Liz Househam
Consultant neurologist and neuromuscular specialist
Plymouth Hospitals NHS Trust
Useful websites
• www.treat-nmd.eu
• www.musculardystrophyuk.org
Lecture outline
• Why is management of muscular dystrophies (MD) important?
• What are the components of quality care?
• What are the pivotal points in disease progression to recognise and plan
for?
• What is the toolkit and the team who are required?
• Disclaimer: not a lecture on all the interventions necessary for each
individual type of muscular dystrophy
Why is management of MD important?
• No cure- but no reason for nihilism
either
• Life-long conditions, patients need
to be empowered to understand
their care needs
• Frequently simple principles
underpin interventions which may
extend life expectancy and
enhance quality of life
• Overarching aim of medical
management is to anticipate and
manage problems to facilitate
participation in normal life
How do we know this makes a difference?
What are the components of quality care?
• Knowledge
• A lifelong anticipatory
approach
• Patient centred (nothing about
me without me)
• A holistic attitude
• Multidisciplinary approach with
different skill sets represented
and available when needed
Knowledge
• Experience
• Expert guidelines – ENMC publications
– TREAT-NMD website • DMD, SMA, CMD including family
guides
• Cochrane reviews
• Rare diseases: RCTs and cohort studies typically impossible or require international approach
• EU perspective: Centres of expertise and reference networks will be required to generate and utilise high level of quality guidance
What does multidisciplinary care look like?
(eg DMD)
Management starts before and at diagnosis
• Diagnostic tools
– Clinical assessment
– Creatine kinase levels
– EMG
– Muscle MRI
– Muscle biopsy
– DNA testing
Important early explanation as to purpose of investigation
• Interventions around diagnosis
– Best practice will include time for diagnostic appointment, rapid opportunity for follow up
– Genetic counselling*
– Family support
– Information
– Prospective care planning: hope! “planning for the best”
– Contact with patient organisations, registries
*genetic counselling is not only an issue at diagnosis. Remember carrier issues, affected individuals reaching reproductive age, new interpretations of genetics…..
Diagnosis determines management
– 28% myotonic dystrophy
– 23% DMD/BMD
– 10% FSHD
– 5% SMA
– 6% LGMD
– <3% each Bethlem, congenital muscular dystrophy, congenital myopathies
– <2% myofibrillar myopathies, distal myopathies
– ~20% undiagnosed/ under investigation
• NE clinic population of ~1200
patients (Norwood et al 2009)
Musculoskeletal needs are varied.
• Presentation as babies:
never achieve
independent walking
• Childhood presentation
with loss of ambulation
• Childhood presentation
with adult loss of
ambulation
• Adult presentation: slowly
progressive
• Predominant weakness:
proximal/ distal/ mixed
• Prominent contractures
• Predominant involvement
of cardiac or respiratory
systems
Musculoskeletal management
• Aim – The optimal
maintenance of muscle strength and function
– Facilitate continued access to education, employment, fun
– Involves the NM specialist, physiotherapy, occupational therapy, rehabilitation medicine, orthotics, wheelchair services……
Prediction of loss of ambulation
• Psychological preparation
• House adaptations
• School and workplace
• Hobbies and interests
• Provision of appropriate
wheelchair
• Similar planning needed for
loss of ability to climb stairs,
self feeding, requirement for
ventilation etc
Requirement for orthopaedic input
• Major focus of interventions – Contractures
– Scoliosis
– Scapular fixation
– Painful dislocation
– Management of OA
• Key success factors – Know your orthopaedic
surgeons
– Experience
– Timing of interventions
– Careful preparation for surgery (respiratory, cardiac, nutritional, anaesthetic, access to ITU….)
Pain
• Under recognised but reported if you ask about it. Often stage specific
• Prominent in many forms of MD especially on exercise in ambulant phase
• FSHD may be a particular problem
• Postural problems in later disease
• Look for the specific cause and see if there is a physio/orthotics/ exercise solution
• ?surgery (eg painful dislocation)
• Prevention better than cure
• Pain specialist input
Bone health
• Particular issue for DMD due to steroids
• Unclear as to correct management for young non-ambulant people – Fracture/no fracture
• ?Dexa scan
• Optimise vitamin D/ Calcium/ diet
• Maintain weight bearing for as long as possible.
• Hormone profile
• Open discussion about management options and limited evidence.
Consider childbearing potential.
Respiratory and Cardiac care
• Respiratory and cardiac complications are the major
threat to life expectancy in MD
• General principles of management improve quality of life
and survival
– These are often treatable complications
• Simple principles can be followed to care for these
complications safely
• Patient education as to benefit is paramount
• Specific issues need to be addressed in planning
surgery/ anaesthesia.
Respiratory Care
• Anticipatory due to knowledge of diagnosis
Respiratory Care
• Anticipatory due to knowledge of diagnosis
DMD
FSHD
LGMD2I Aim: proactive prediction of respiratory problems and prevention of emergencies through timely intervention
Respiratory Care
• Assessment
– Forced vital capacity
– Peak cough flow
– Capnography
– Overnight oximetry
• Staged interventions
– Volume recruitment
– Cough enhancement
– Nocturnal ventilation
– Daytime ventilation
– Tracheostomy
• Prophylaxis
– Immunisations
– Prompt treatment of chest
infections.
– Home antibiotics and GP
advice
– Pre-operative care
• Personnel
– Respiratory consultant
– Access to assessments
– Home ventilation care team
for on-going care and risk
management
Cardiological management
• Anticipatory screening.
Cardiological management
• Anticipatory screening.
Aim: proactive prediction of cardiac problems and prevention of emergencies through timely intervention
Duchenne/Becker EDMD
Laminopathy
Myotonic dystrophy
Cardiological management
• Assessments – ECG holter monitoring
– Echocardiogram
– Cardiac MRI
• Non-symptomatic therefore screening Ix needed ?frequency
• Always – If symptomatic
– Before planned surgery
– Pregnancy
• Interventions – Pacing
– Implantable defibrillator
– ACE inhibition
– Beta blockade
– Other pharmacological interventions as per heart failure recommendations
– Cardiac transplantation
Nutritional issues
• Obesity risk (steroids, immobility) – Further limitation of mobility
• Risk of underweight – Long meal times/fatigue
– Choking episodes
– UL weakness
– Link with respiratory symptoms
• Other GI issues: IBD, constipation probably under reported and managed – (myotonic dystrophy and
pseudo ileus)
• Assessments – History
– Weight
– Swallowing evaluation
• Interventions – Exercise advice
– Dietary and SALT advice
– Supplementation
– Nasogastric feeding
– PEG
Psychosocial care: dealing with the
day to day reality of MD
• Potential problems – Learning (specific issues in
DMD)
– Loss of intellectual function (DM1)
– Social isolation
– Depression
– Financial issues….
• Critical times – Transition
– Loss of ambulation
– Loss of work/driving/independence…..
– Life threatening ill health
– End of life
• Interventions – Specialist v generic
psychological input
– CAB, SS, charities
– Respite
– Advanced planning and discussion of the future
Treatment escalation planning
• Realistic, on-going discussions about ventilation/cardiac
management
• Recognising that end of life is approaching and
involvement of appropriate agencies in a timely manner.
• Documentation of patients wishes for crisis management
prior to this.
A look into the future…….
• DMD now an adult disease.
– Further changes in phenotype with genetic
manipulation
– Changing expectation within lifetime of patient
• Progress in genetic diagnosis and knowledge of natural
history.
– Use of MRI v muscle biopsy
Mean age at death in DMD
Any questions?
Useful websites
• www.treat-nmd.eu
• www.musculardystrophyuk.org