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