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Neuromuscular Update Cheryl Longman. Neuromuscular Update Managed Clinical Network & Mackie report Myotonic Dystrophy Cardiac management of muscle disease.

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Presentation on theme: "Neuromuscular Update Cheryl Longman. Neuromuscular Update Managed Clinical Network & Mackie report Myotonic Dystrophy Cardiac management of muscle disease."— Presentation transcript:

1 Neuromuscular Update Cheryl Longman

2 Neuromuscular Update Managed Clinical Network & Mackie report Myotonic Dystrophy Cardiac management of muscle disease Research projects

3 Scottish Muscle MCN: Structure Lead clinician Karen Naismith Adult lead Richard Petty SubgroupsChairs –Myotonic dystrophy Cheryl –PaediatricRobert McWilliam –PhysiotherapyMarina di Marco –Service usersJon Fleming –TransitionMarina di Marco Steering group: Alison, Anne-Marie, Cheryl, Douglas, Gill, Helen, Yvonne, Vicky, Wilma

4 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

5 Myotonic Dystrophy Patients Pre: Prior to invitations being sent, 2008-early 2009. Post: 2010 at least 9 months after invites

6 Findings in 284 patients seen in Glasgow, Edinburgh, Dundee Glasgow(n=166)Edinburgh(n=89)Dundee(n=29) Pacemaker14.5%7.9% 2.2% ICD 10.3% Overnightventilation6.0%13.5%6.9% Excessive daytime sleepiness (ESS>12) 30.7%18.0%27.6% Working27.7%36.0%48.3%

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8 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%)

9 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

10 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%)

11 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

12 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%)

13 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%)

14 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%)

15 Standard Statement 4 Patients with DM1 are given details of appropriate information and support

16 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%)

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18 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

19 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

20 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

21 Acknowledgements Carol Gardiner 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 Margaret O’Neil 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 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


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