Neuromuscular UpdateNeuromuscular Update

Cheryl LongmanCheryl Longman

Neuromuscular UpdateNeuromuscular Update

Managed Clinical Network & Mackie reportManaged Clinical Network & Mackie report

Myotonic Dystrophy Myotonic Dystrophy

Cardiac management of muscle diseaseCardiac management of muscle disease

Research projectsResearch projects

Scottish Muscle MCN: StructureScottish Muscle MCN: Structure

Lead clinician Lead clinician Karen NaismithKaren Naismith

Adult lead Adult lead Richard PettyRichard Petty

SubgroupsSubgroups ChairsChairs– Myotonic dystrophy Myotonic dystrophy CherylCheryl– PaediatricPaediatric Robert McWilliamRobert McWilliam– PhysiotherapyPhysiotherapy Marina di MarcoMarina di Marco– Service usersService users Jon FlemingJon Fleming– TransitionTransition Marina di MarcoMarina di Marco

Steering group: Alison, Anne-Marie, Cheryl, Steering group: Alison, Anne-Marie, Cheryl, Douglas, Gill, Helen, Yvonne, Vicky, WilmaDouglas, Gill, Helen, Yvonne, Vicky, Wilma

Scottish Muscle MCN Scottish Muscle MCN www.smn.scot.nhs.ukwww.smn.scot.nhs.uk

Guidelines/Care Pathways/Clinical StandardsGuidelines/Care Pathways/Clinical Standards

Clinical Governance meetingClinical Governance meeting

Service mapping exercise & Mackie reportService mapping exercise & Mackie report

Denmark tripDenmark trip

Self Directed Support projectSelf Directed Support project

Links with spinal services, SPRING, Inherited Links with spinal services, SPRING, Inherited cardiac conditions groupcardiac conditions group

Education & difficult cases meetingEducation & difficult cases meeting

Myotonic Dystrophy PatientsMyotonic Dystrophy Patients

287

19166% 186

152

9160%

157

10969%

140

5539%

133

8866%

3416

47%

39 3077%

0

50

100

150

200

250

300

Glasgow Aberdeen Edinburgh Dundee

Pre Total

Pre Seen

Post Total

Post Seen

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

Findings in 284 patients seen in Findings in 284 patients seen in Glasgow, Edinburgh, DundeeGlasgow, Edinburgh, Dundee

GlasgowGlasgow

(n=166)(n=166)

EdinburghEdinburgh

(n=89)(n=89)

DundeeDundee

(n=29)(n=29)

PacemakerPacemaker 14.5%14.5% 7.9%7.9%

2.2% ICD2.2% ICD

10.3%10.3%

Overnight Overnight

ventilationventilation

6.0%6.0% 13.5%13.5% 6.9%6.9%

Excessive daytime Excessive daytime sleepiness sleepiness (ESS>12)(ESS>12)

30.7%30.7% 18.0%18.0% 27.6%27.6%

WorkingWorking 27.7%27.7% 36.0%36.0% 48.3%48.3%

Standard Statement 1Standard Statement 1 All patients with a clinical diagnosis All patients with a clinical diagnosis of DM1 should have molecular of DM1 should have molecular confirmation of diagnosis.confirmation of diagnosis.

Essential CriterionEssential Criterion

95% of patients attending a specialist 95% of patients attending a specialist management clinic have a molecular management clinic have a molecular diagnosis of DM1 diagnosis of DM1 (97%)(97%)

Standard Statement 2Standard Statement 2 Patients with DM1 have an annual Patients with DM1 have an annual review at a clinic that follows the SMN review at a clinic that follows the SMN Management Guidelines: Management Management Guidelines: Management of adults with Myotonic Dystrophyof adults with Myotonic Dystrophy

Essential CriteriaEssential Criteria90% of patients attending a specialist management 90% of patients attending a specialist management clinic are reviewed annuallyclinic are reviewed annually90% of patients who do not attend an appointment 90% of patients who do not attend an appointment at a specialist management clinic are offered a at a specialist management clinic are offered a further clinic appointment further clinic appointment (100%)(100%)In 90% of cases where patients have not attended In 90% of cases where patients have not attended two consecutive invitations to a specialist two consecutive invitations to a specialist management clinic, their GP is informed and sent a management clinic, their GP is informed and sent a copy of the SMN leaflet “Management of Adults copy of the SMN leaflet “Management of Adults with Myotonic Dystrophy” with Myotonic Dystrophy” (67%)(67%)

Desirable CriterionDesirable Criterion90% of patients with DM1 not attending a hospital 90% of patients with DM1 not attending a hospital clinic for their DM1 are offered an appointment at a clinic for their DM1 are offered an appointment at a specialist management clinic specialist management clinic (90%)(90%)

Standard Statement 3Standard Statement 3 Patients with DM1 receive Patients with DM1 receive appropriate monitoring and referrals appropriate monitoring and referrals according to the SMN Management according to the SMN Management Guidelines: Management of adults Guidelines: Management of adults with Myotonic Dystrophy: A guide with Myotonic Dystrophy: A guide for professionalsfor professionals

Cardiology: Essential CriterionCardiology: Essential Criterion

90% of patients attending a specialist 90% of patients attending a specialist management clinic receive an automated ECG, management clinic receive an automated ECG, unless they either have a pacemaker, an ICD, or unless they either have a pacemaker, an ICD, or are under active management by a cardiologist. are under active management by a cardiologist. (90%)(90%)

Respiratory/Sleep: Essential Criteria Respiratory/Sleep: Essential Criteria

90% of patients attending a specialist 90% of patients attending a specialist management clinic have their Epworth management clinic have their Epworth Sleepiness Score (ESS) assessed Sleepiness Score (ESS) assessed (100%)(100%)

90% of patient attending a specialist 90% of patient attending a specialist management clinic are offered referral to a management clinic are offered referral to a respiratory service, if they have not previously respiratory service, if they have not previously been investigated, for dyspnoea lying flat, been investigated, for dyspnoea lying flat, worsening dyspnoea, morning headaches, worsening dyspnoea, morning headaches, respiratory infection requiring consecutive respiratory infection requiring consecutive antibiotics in the past year (more than one antibiotics in the past year (more than one course of antibiotics for the same infection), ESS course of antibiotics for the same infection), ESS of greater than 12 of greater than 12 (90%)(90%)

Endocrine: Essential CriteriaEndocrine: Essential Criteria

90% of patients attending a specialist management clinic 90% of patients attending a specialist management clinic have a random blood glucose (RGB) recorded, unless have a random blood glucose (RGB) recorded, unless known to be diabetic known to be diabetic (81%)(81%)90% of patients attending a specialist management clinic 90% of patients attending a specialist management clinic with a RBG over 11mmol/L and diabetic symptoms are with a RBG over 11mmol/L and diabetic symptoms are referred to a diabetic clinic, unless known to be diabetic referred to a diabetic clinic, unless known to be diabetic (N/A)(N/A)90% of patient attending a specialist management clinic 90% of patient attending a specialist management clinic with a RBG over 6mmol/L, without diabetic symptoms, with a RBG over 6mmol/L, without diabetic symptoms, are referred to their GP for follow up, unless known to be are referred to their GP for follow up, unless known to be diabetic diabetic (100%)(100%)90% of patients attending a specialist management clinic 90% of patients attending a specialist management clinic have thyroid function measured, unless known to have have thyroid function measured, unless known to have thyroid disease thyroid disease (92%)(92%)90% of patients attending a specialist management clinic 90% of patients attending a specialist management clinic with abnormal thyroid function test are referred to their with abnormal thyroid function test are referred to their GP for management, unless known to have thyroid GP for management, unless known to have thyroid disease disease (100%)(100%)

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

Essential CriteriaEssential Criteria

90% of patients attending a specialist 90% of patients attending a specialist management clinic are given a care or alert management clinic are given a care or alert card, if they do not have one with them at clinic card, if they do not have one with them at clinic (100%)(100%)90% of patients attending a specialist 90% of patients attending a specialist management clinic are given details of the management clinic are given details of the Muscular Dystrophy Campaign Care Advisor Muscular Dystrophy Campaign Care Advisor and the DM1 support group and the DM1 support group (93%)(93%)90% of patients attending a specialist 90% of patients attending a specialist management clinic are offered preconception management clinic are offered preconception genetic counselling, if appropriate genetic counselling, if appropriate (100%)(100%)90% of patients attending a specialist 90% of patients attending a specialist management clinic are advised of general management clinic are advised of general anaesthetic and sedation risks anaesthetic and sedation risks (97%)(97%)

National Advisory Committee On Heart National Advisory Committee On Heart Disease: Inherited Cardiac Conditions GrpDisease: Inherited Cardiac Conditions Grp

June meeting proposed endorsing ENMC 2003 June meeting proposed endorsing ENMC 2003 guidelinesguidelines– Laminopathy: ICDs for all with CCD & /or LV systolic Laminopathy: ICDs for all with CCD & /or LV systolic

dysfunction. Gene positive patients without these should dysfunction. Gene positive patients without these should be followed at least annually with ECG, 24hr ECG, echo. be followed at least annually with ECG, 24hr ECG, echo.

Sep meeting proposed setting up email group of Sep meeting proposed setting up email group of interested cardiologists to address:interested cardiologists to address:– Referral/re-referral triggers for patients with abnormal ECGReferral/re-referral triggers for patients with abnormal ECG– PPM/ICD insertion guidelines PPM/ICD insertion guidelines – Role of EP studies in borderline PRRole of EP studies in borderline PR

DMD/BMD Carrier EchoesDMD/BMD Carrier Echoes

SMN Steering Group 2009 (n=10)SMN Steering Group 2009 (n=10)– All for informing carriers, via GP, wording importantAll for informing carriers, via GP, wording important

Family discussions (19 parents, 6 adults with Family discussions (19 parents, 6 adults with other NMD) other NMD) – 24/25 for informing carriers24/25 for informing carriers– Fairness / withholding information / via GP but easy Fairness / withholding information / via GP but easy

access to Genetics adviceaccess to Genetics advice

Standard strategy, letters and info. leafletsStandard strategy, letters and info. leaflets– First echoes organised by GeneticsFirst echoes organised by Genetics– Patients trigger future echoes via GeneticsPatients trigger future echoes via Genetics– Named cardiologists link with each Genetic centreNamed cardiologists link with each Genetic centre– Pilot in Dundee Pilot in Dundee

Research, Trials & Trial ReadinessResearch, Trials & Trial Readiness

Genetic variation in DM1: 72 recruitedGenetic variation in DM1: 72 recruited– ““Guthrie card study” target 100 Guthrie card study” target 100 – ““Other cases” target 100Other cases” target 100

Disease registriesDisease registries– DMD, SMADMD, SMA

UK Clinical Trials / TREAT NMDUK Clinical Trials / TREAT NMD– PTC124 study completedPTC124 study completed– DMD ASO exon 51 skipping recruitingDMD ASO exon 51 skipping recruiting

AcknowledgementsAcknowledgementsCarol GardinerCarol Gardiner David GoudieDavid Goudie Ian GrantIan GrantHelen GregoryHelen GregoryGillian HallGillian HallAndrew HannahAndrew HannahRussell HewettRussell HewettGeoff HulksGeoff HulksShelagh JossShelagh JossEsther KinningEsther KinningAnne LampeAnne LampeRuth McGowanRuth McGowanTom MacKayTom MacKayCatherine McWilliam Catherine McWilliam Darren Monckton Darren Monckton Christine MurphyChristine MurphyElycia OrmandyElycia Ormandy

Margaret O’NeilMargaret O’NeilIrene ParsonsIrene Parsons Gill PatonGill PatonJohn PayneJohn Payne Richard PettyRichard PettyYvonne RobbYvonne RobbKaryn RobertsonKaryn RobertsonSheila SimpsonSheila SimpsonLance SloanLance SloanRobin SmithRobin SmithLesley SnaddenLesley SnaddenWilma StewartWilma StewartUwe SpelmeyerUwe SpelmeyerRobert SwinglerRobert SwinglerAnne-Marie Taylor Anne-Marie Taylor Alison WilcoxAlison WilcoxDouglas WilcoxDouglas Wilcox

Steve BanhamSteve BanhamNicola BradshawNicola BradshawPaul BroadhurstPaul BroadhurstMargaret BowlerMargaret BowlerAnne Marie ChoyAnne Marie ChoyLaura CraigLaura CraigKen DaggKen DaggRichard DavenportRichard DavenportJohn DeanJohn DeanMartin DenvirMartin DenvirJaqueline DonnachieJaqueline DonnachieHamish DougallHamish DougallGraham DouglasGraham DouglasMaureen EdwardsMaureen EdwardsMaria FarrugiaMaria FarrugiaIain FindlayIain FindlayPatrick FitchPatrick Fitch