dr chris turner consultant neurologist - treat- · pdf file2 i) cardiology investigation 0 2 4...

Queen Square Centre for Neuromuscular Diseases

Standards of Care in Myotonic DystrophyDr Chris Turner

Consultant Neurologist

LONDON’S GLOBAL UNIVERSITY

MRC Centre for Neuromuscular

Diseases

Myotonic Dystrophy Workshop

1st December 2010

UCL Institute of NeurologyBox 102, Queen Square

London WC1N 3BGwww.cnmd.ac.uk

Standards of Care in DM1-what do we know?•Cynthia Gagnon, Luc Noreau, Richard T Moxley, Luc Laberge, Stéphane Jean. Louis Richer, Michel Perron, Suzanne Veillette and Jean Mathieu, Towards an integrative approach to the management of myotonic dystrophy type 1. J. Neurol. Neurosurg. Psychiatry 2007;78;800-806.

•Management of Adults with Myotonic Dystrophy ”A Guide for Professionals” July 2009. Scottish Muscle Network

•Gagnon C, Chouinard MC, Laberge L, Veillette S, Bégin P, Breton R, Jean S, Brisson D, Gaudet D, Mathieu J; DMI Expert Panel. Health supervision and anticipatory guidance in adult myotonic dystrophy type 1. Neuromuscul Disord. 2010 Dec;20(12):847-51.


Online DM1 questionnaire

•Dr Chris Turner Queen Square Centre for NMD

•Professor Hanns Lochmüller-Newcastle

•Michael Hails (online design)-Newcastle

•Karen Rafferty-Newcastle

•11 “spines of care”

•20 requests-11 respondents from a wide geography

1 iii) What is the average outpatient waiting time for a new appointment?

0

2

4

6

8

10

12

Less than 1 week Less than 1 month Less than 6 months Over 6 months


1 iii) What is the average outpatient waiting time for a followup appointment?

0

1

2

3

4

5

6

Less than 1 week Less than 1 month Less than 6 months Over 6 months


1 iv) How many new patients with DM1 do you see in outpatients per year?

0

1

2

3

4

5

6

Less than 10 Less than 50 Less than 100 More than 100


1 iv) How many follow-up patients with DM1 do you see in outpatients per year?

0

1

2

3

4

5

6

Less than 10 Less than 50 Less than 100 More than 100


1 ix) What is the annual mortality in your DM patients?

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2

4

6

8

10

12

a) Suddendeath-unknown

cause

b) Respiratoryfailure from any

cause

c) Arrhythmia d) Heart Failure e) Cancer f)Complications

of trauma

g) Unknown h) Other

3 responses

4 responsesQueen Square Centre for Neuromuscular Diseases

4 responses

2 i) Cardiology Investigation

0

2

4

6

8

10

12

Every 6 months Every 12 months Every 24 months Only if patient symptomatic

ECGHolter Monitor Echo


2 iv) What is the indication for PPM

0

0.5

1

1.5

2

2.5

3

3.5

4

4.5

HV interval greaterthan 70ms on EPS

Second/Third degreeHeart Block

First Degree HeartBlock

Do Not Know Other

2 iv) What is the indication for ICD

0

1

2

3

4

5

6

Inducible andsustained ventriculartachycardia (VT) on

EPS

Sustained VT onECG or Holter

monitor

VT on ECG or Holtermonitor

Do not know Other


2 viii) What proportion of your patients does your cardiologist review?

0

1

2

3

4

5

6

75-100% 50-75% 25-50% 0-25%


3 ii) What indication(s) would make you request a sleep study?

0

2

4

6

8

10

12

Routine sleepstudies performed

irrespective ofsymptoms

pO2 ESS score FVC Symptomssuggestive of

Obstructive SleepApnoea (OSA)

Symptomssuggestive of type

2 respiratoryfailure


Respiratory monitoring Questions 3 v/vi/viii

0

2

4

6

8

10

12

v) Do you have access to a specialist withan interest in sleep-disordered breathing?

vi) Do you have an acute admission planorganised with the patient's local hospital?

viii) Do your local physicians andintensivists contact you when DM patients

are admitted during acute and electiveadmissions?

Yes No


Yes No Yes No

Nutrition (majority perform SALT referral or Video fluoroscopy “if clinically indicated”)

x) What clinical indication(s) do you use to start parenteral nutrition?

0

1

2

3

4

5

6

7

8

a) Following first episodeof aspiration pneumonia

b) Recurrent aspirationpneumonia

c) Reduction in BodyMass Index. To what

level? Please state below

d) On the advice of otherprofessionals such as

SALT

e) Recurrent episodes ofchoking following oral

liquid and/or solid intake

ix) How many of your DM patients receive parenteral nutrition?

0

1

2

3

4

5

6

7

Less than 5 5-20 20-40 Greater than 40


Which sleepiness test? (9/11 respondants)

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1

2

3

4

5

6

7

8

9

10

a) Epworth SleepinessScale

b) Multiple Sleep LatencyTest (MSLT)

c) Stanford SleepinessScale

d) Maintenance ofwakefulness test (MWT)

Routinely

Occasionally

Rarely


5 iv) What proportion of your DM patients take modafinil?(10/11 respondants)

0

1

2

3

4

5

6

Less than 10% 10-25% 25-50% More than 50%


6 ii) What rating scale(s) do you use to assess patient's power?(7/11 respondants)

0

1

2

3

4

5

a) MRC rating scale ofmajor muscle groups

b) MRC Sum Score c) Muscular DisabilityRating Score (MDRS)

d) Muscular ImpairmentRating Scale (MIRS)

e) Other - please statebelow


Treatment of myotonia Question 6 vi)(7/11 respondants)

0

1

2

3

4

5

6

a) Mexiletine b) Phenytoin c) Tricyclicantidepressants

d) Other class 1 anti-arrhythmic

e) Otheranticonvulsants

FrequentlySometimesRarely Never


Question 7 i) How often do you check for diabetes mellitus in your patients?

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1

2

3

4

5

6

a) If clinical suspected only b) 6 monthly c) Yearly d) Two Yearly


7 ii)What method do you use to check for diabetes mellitus in your patients?

0

1

2

3

4

5

6

a) Urine dipstick b) Random blood

sugar

c) Fasting blood

sugar

d) Oral glucose

tolerance test

e) I leave this

decision to the

GP/other health

professional


Question 9 i) and ii) Diagnosis

0

2

4

6

8

10

12

i) Do you have a specialist genetic counselling servicefor patients undergoing either predictive or diagnostic

genetic testing?

ii) Do you offer your patients access to fertilityservices including pre-implantation genetic diagnosis?

Yes

No


DM1 Online Questionnaire June 2011-Summary of Important Questions

1 Outpatient Experience-Frequency of follow-up?-DM specialist clinics only?-Joint Clinics? With cardiology/respiratory/CNS/therapies-Mortality data

2 Cardiology-ECHO/Holter/EPS-How often and when?-Indications for referral to cardiology?-Indications for PPM/ICD



3 Respiratory-Monitoring respiratory failure? Respiratory physician?-Non–compliance with NIV?-Acute admission plan-Vaccinations -Risks of anaesthesia

4 GI-Monitoring of dysphagia-PEG/RIG insertion?-Predicting risk of aspiration pneumonia?-Treatment of lower GI symptoms


5 Central Nervous System-Most appropriate test for EDS?-Modafinil? Side effects and license?-Apathy/motivation/cognitive changes

6 Muscle-Appropriate test for muscle power?-Appropriate scale for physical disability -Access to Physio/OT/orthotics-Treatment of myotonia?

7 Endocrine-Diabetes/thyroid disease-which method and how often-pregnancy


8 Ocular-who should monitor for cataracts?

9 Diagnosis-access to genetic counselling-access to PGD/antenatal screening

10 Commnunity-access to community services-access to CNS

11 Information-Care card-Charities/support services contact -End of life plan-Tissue Donation


What’s the evidence?


Development of consensus statements without formal

evidence1)Areas of agreement2)Areas for discussion

Standards of Care in DM1“areas of agreement”

1) Cardiorespiratory complications account for the majority of early mortalities in DM1 and there is an imperative to improve monitoring and treatment of these complications

2) EDS is a disabling symptom for patients and families. Modafinil is effective at treating EDS in some patients and further clinical trials need to be performed to identify effective outcome measures for assessing excessive daytime sleepiness and therapeutic efficacy of modafinil

3) Further studies into the poor tolerance of NIV in DM are required



4) Improved acute admissions care planning especially for acute respiratory failure

5) Randomised intervention studies to determine the efficacy and timing of pacemakers and implantable defibrillators in DM will be important, but in the meantime a standardised National approach to monitoring cardiac complications is important

6) "Normal" electrophysiological parameters calculated with ECG and EPS monitoring



7) Improved access to specialist cardiology input-UK Cardiology DM network

8) Greater discussion and improved management of lower GI symptoms

9) A better understanding of the role of dysphagia in causing aspiration

pneumonia, malnutrition and early mortality in DM



10) Improved access and awareness of PGD/antenatal screening

11) Improved access to therapy services in the community and access to advice from specialist centres

12) Critical role of registry formation and charities

13) More open discussion and simplified pathways to obtain DM tissueneed to be generated


Standards of Care in DM1“areas for further discussion”

•Role of joint clinics and specialist input

•Monitoring of muscle power

•Mexiletine may be an effective treatment for myotonia in some DM patients

•Monitoring of endocrine abnormalities, cataracts


Standards of Care in DM1“publication, dissemination and funding”


•Consensus report for publication

•Dissemination to neurologist/geneticists

•Commissioners

•NICE guidelines?

dr chris turner consultant neurologist - treat- · pdf file2 i) cardiology investigation 0 2 4...

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