Neuromuscular Update
Cheryl Longman
Neuromuscular Update
Managed Clinical Network & Mackie report
Myotonic Dystrophy
Cardiac management of muscle disease
Research projects
Scottish Muscle MCN: Structure
Lead clinician
Adult lead
Subgroups
– Myotonic dystrophy
– Paediatric
– Physiotherapy
– Service users
– Transition
Karen Naismith
Richard Petty
Chairs
Cheryl
Robert McWilliam
Marina di Marco
Jon Fleming
Marina di Marco
Steering group: Alison, Anne-Marie, Cheryl,
Douglas, Gill, Helen, Yvonne, Vicky, Wilma
Scottish Muscle MCN
www.smn.scot.nhs.uk
Guidelines/Care Pathways/Clinical Standards
Clinical Governance meeting
Service mapping exercise & Mackie report
Denmark trip
Self Directed Support project
Links with spinal services, SPRING, Inherited
cardiac conditions group
Education & difficult cases meeting
Myotonic Dystrophy Patients
300
Pre Total
287
250
Pre Seen
200
191
66%
Post Total
186
150
152
Post Seen
157
140
133
100
91
60%
109
69%
50
88
66%
55
39%
34
0
Glasgow
Aberdeen
Edinburgh
16
47%
39
Dundee
30
77%
Pre: Prior to
invitations being
sent, 2008-early
2009. Post: 2010
at least 9 months
after invites
Findings in 284 patients seen in
Glasgow, Edinburgh, Dundee
Glasgow
(n=166)
Edinburgh
(n=89)
Dundee
(n=29)
Pacemaker
14.5%
7.9%
2.2% ICD
10.3%
Overnight
ventilation
6.0%
13.5%
6.9%
Excessive daytime
sleepiness (ESS>12)
30.7%
18.0%
27.6%
Working
27.7%
36.0%
48.3%
Standard Statement 1
All patients with a clinical diagnosis
of DM1 should have molecular
confirmation of diagnosis.
Essential Criterion
95% of patients attending a specialist
management clinic have a molecular
diagnosis of DM1 (97%)
Standard Statement 2
Patients with DM1 have an annual
review at a clinic that follows the SMN
Management Guidelines: Management
of adults with Myotonic Dystrophy
Essential Criteria
90% of patients attending a specialist management
clinic are reviewed annually
90% of patients who do not attend an appointment
at a specialist management clinic are offered a
further clinic appointment (100%)
In 90% of cases where patients have not attended
two consecutive invitations to a specialist
management clinic, their GP is informed and sent a
copy of the SMN leaflet “Management of Adults
with Myotonic Dystrophy” (67%)
Desirable Criterion
90% of patients with DM1 not attending a hospital
clinic for their DM1 are offered an appointment at a
specialist management clinic (90%)
Standard Statement 3
Patients with DM1 receive
appropriate monitoring and referrals
according to the SMN Management
Guidelines: Management of adults
with Myotonic Dystrophy: A guide
for professionals
Cardiology: Essential Criterion
90% of patients attending a specialist
management clinic receive an automated ECG,
unless they either have a pacemaker, an ICD, or
are under active management by a cardiologist.
(90%)
Respiratory/Sleep: Essential Criteria
90% of patients attending a specialist
management clinic have their Epworth
Sleepiness Score (ESS) assessed (100%)
90% of patient attending a specialist
management clinic are offered referral to a
respiratory service, if they have not previously
been investigated, for dyspnoea lying flat,
worsening dyspnoea, morning headaches,
respiratory infection requiring consecutive
antibiotics in the past year (more than one
course of antibiotics for the same infection), ESS
of greater than 12 (90%)
Endocrine: Essential Criteria
90% of patients attending a specialist management clinic
have a random blood glucose (RGB) recorded, unless
known to be diabetic (81%)
90% of patients attending a specialist management clinic
with a RBG over 11mmol/L and diabetic symptoms are
referred to a diabetic clinic, unless known to be diabetic
(N/A)
90% of patient attending a specialist management clinic
with a RBG over 6mmol/L, without diabetic symptoms,
are referred to their GP for follow up, unless known to be
diabetic (100%)
90% of patients attending a specialist management clinic
have thyroid function measured, unless known to have
thyroid disease (92%)
90% of patients attending a specialist management clinic
with abnormal thyroid function test are referred to their
GP for management, unless known to have thyroid
disease (100%)
Standard Statement 4
Patients with DM1 are given
details of appropriate
information and support
Essential Criteria
90% of patients attending a specialist
management clinic are given a care or alert
card, if they do not have one with them at clinic
(100%)
90% of patients attending a specialist
management clinic are given details of the
Muscular Dystrophy Campaign Care Advisor
and the DM1 support group (93%)
90% of patients attending a specialist
management clinic are offered preconception
genetic counselling, if appropriate (100%)
90% of patients attending a specialist
management clinic are advised of general
anaesthetic and sedation risks (97%)
National Advisory Committee On Heart
Disease: Inherited Cardiac Conditions Grp
June meeting proposed endorsing ENMC 2003
guidelines
– Laminopathy: ICDs for all with CCD & /or LV systolic
dysfunction. Gene positive patients without these should
be followed at least annually with ECG, 24hr ECG, echo.
Sep meeting proposed setting up email group of
interested cardiologists to address:
– Referral/re-referral triggers for patients with abnormal ECG
– PPM/ICD insertion guidelines
– Role of EP studies in borderline PR
DMD/BMD Carrier Echoes
SMN Steering Group 2009 (n=10)
– All for informing carriers, via GP, wording important
Family discussions (19 parents, 6 adults with
other NMD)
– 24/25 for informing carriers
– Fairness / withholding information / via GP but easy
access to Genetics advice
Standard strategy, letters and info. leaflets
–
–
–
–
First echoes organised by Genetics
Patients trigger future echoes via Genetics
Named cardiologists link with each Genetic centre
Pilot in Dundee
Research, Trials & Trial Readiness
Genetic variation in DM1: 72 recruited
– “Guthrie card study” target 100
– “Other cases” target 100
Disease registries
– DMD, SMA
UK Clinical Trials / TREAT NMD
– PTC124 study completed
– DMD ASO exon 51 skipping recruiting
Acknowledgements
Steve Banham
Nicola Bradshaw
Paul Broadhurst
Margaret Bowler
Anne Marie Choy
Laura Craig
Ken Dagg
Richard Davenport
John Dean
Martin Denvir
Jaqueline Donnachie
Hamish Dougall
Graham Douglas
Maureen Edwards
Maria Farrugia
Iain Findlay
Patrick Fitch
Carol Gardiner
Margaret O’Neil
David Goudie
Ian Grant
Helen Gregory
Gillian Hall
Andrew Hannah
Russell Hewett
Geoff Hulks
Shelagh Joss
Esther Kinning
Anne Lampe
Ruth McGowan
Tom MacKay
Catherine McWilliam
Darren Monckton
Christine Murphy
Elycia Ormandy
Irene Parsons
Gill Paton
John Payne
Richard Petty
Yvonne Robb
Karyn Robertson
Sheila Simpson
Lance Sloan
Robin Smith
Lesley Snadden
Wilma Stewart
Uwe Spelmeyer
Robert Swingler
Anne-Marie Taylor
Alison Wilcox
Douglas Wilcox