- Email: [email protected]
G.P.246
890
Abstracts / Neuromuscular Disorders 24 (2014) 791–924
aim of this study was to describe ambulation levels and orthoses usage in different SMA types. Eighty-one patients (44 boys, 37 girls) diagnosed with Spinal Muscular Atrophy were analyzed. The group was consisted of 47 SMA Type 2, 24 SMA Type 3, 7 SMA Type 1 and 3 SMA Intermediate Type patients. Orthoses use and ambulation levels were recorded. None of the SMA Type 1 patients used orthoses and they were all nonambulant. 21 of SMA Type 2 patients (44,6%) were using different orthoses [10 Ankle Foot Orthoses (AFO), 10 Knee-Ankle–Foot-Orthoses (KAFO), 5 trunk support, 2 standing frame). Three (14.2%) of 21 SMA Type 2 patients were ambulatory independently, 8 (38%) ambulatory with orthoses, 7 (33.3%) with wheelchair and 3 (14.2%) non-ambulant. In SMA Type 3 group, 10 (41.6%) were using orthoses (7 AFO, 2 KAFO, 3 insoles, 1 body support, 1 sitting device), and 14 (58.3%) patients were not using any device for ambulation. Eighteen (75%) SMA Type 3 patients were ambulatory independently, 3 (12.5%) were ambulatory with support, 2 (8.3%) were ambulatory with wheelchair and 1 (4.1%) was nonambulatory. In SMA intermediate Type group, 2 (66.6%) of the patients were using orthoses (2 AFO, 1 insole). They were ambulatory independently. Clinical type is determinative for orthoses need in SMA. In this study, it is concluded that the SMA type 2 patients rehabilitating in sitting level have more orthoses need and orthoses variety than other types. http://dx.doi:10.1016/j.nmd.2014.06.319
REGISTRIES AND DATABASES G.P.244 The development and implementation of a Managed Clinical Neuromuscular Network in the Southwest of the United Kingdom. The first five years A. Majumdar 1, K. Vijayakumar 1, A. Merrison 1, E. Househam 2 1 University Hospital Bristol, Bristol, UK; 2 Derriford Hospital, Plymouth, UK The southwest of the UK covers a population of 5.5 million and its geography is in the shape of a peninsula of a distance of 250 miles. Within this region are two major cities (Bristol and Plymouth) and a number of smaller towns. There are estimated to be 6660 adults and children with neuromuscular disorders (by ICD codes) in the region. Before the neuromuscular network was set up in 2009, it was found that the families affected by NM conditions had very patchy high quality care and there was a great deal of regional inequity in the provision of neuromuscular expertise. In addition to this, patients would have to travel huge distances to other major centres in order to receive care. The mean survival of a boy with Duchenne Muscular dystrophy was found to be 19 years of age which was significantly lower than survival in other parts in the UK. A successful business case was submitted to Specialist Commissioning of the UK National Health Service and funding of £1.1 million was provided. This funding has allowed for the development of a managed clinical network to ensure that the patients (all ages) with NM conditions received equitable and high quality care, near to where they lived. It is hoped that in the long run, it will increase the survival and the quality of life of those affected by NM conditions in the Southwest of the UK. http://dx.doi:10.1016/j.nmd.2014.06.320
G.P.245 Exercise related muscle disorders: The EUROMAC Registry for McArdle disease and other rare glycogenolytic disorders R.S. Scalco 1, R. Quinlivan 1, R. Martin 2, N. Baruch 2, M. Martin 3, C. Navarra 4, A. Martinuzzi 5, C. Bruno 6, P. Laforet 7, K. Sperber 7, S. Sacconi 8, A. Wakelin 9, G. Hadjigeorgiou 10, J. Vissing 11, M. Vorgerd 12, R. Haller 13, Z. Oflazer 14, J. Pouget 15, A. Lucia 16, T. Andreu 17, A. Toscano 18, O. Musumeci 18 1 National Hospital for Neurology and Neurosurgery, London, UK; 2 Vall D’Hebron Research Institute, Barcelona, Spain; 3 University 12 de Octobre, Madrid, Spain; 4 Institute of Biomedical Research of Vigo, Vigo, Spain; 5 E. Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy; 6 University of Genova, Genova, Italy; 7 Assistance Publique Hoˆpitaux de Paris, Paris, France; 8 University of Nice, Nice, France; 9 Association for Glycogen Storage Disorders, London, UK; 10 University of Thessaly, Volos, Greece; 11 Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; 12 University Clinic Bergmannsheil, Bochum, Germany; 13 Institute for Exercise and Environmental Medicine, Dallas, USA; 14 Istambul University, Istambul, Turkey; 15 Hoˆpitaux de Marseille, Marseille, France; 16 Universidad Europea de Madrid, Madrid, Spain; 17 Insttituto de Salud Carlos III, Madrid, Spain; 18 University of Messina, Italy The European Union has funded the development of a new disease registry for McArdle disease and other rare glyco (geno) lytic disorders presenting with exercise intolerance. The aim of the project is to identify as many patients as possible across all European countries and to collect important natural history and epidemiological data. Clinicians working in the European Union (EU) and patients with McArdle disease or other rare glyco (geno) lytic disorders presenting with exercise intolerance from the EU are able to participate in this project. Registration is via a secure web platform accessed through the EUROMAC website http://euromacregistry.eu/. Both patients and doctors will need to supply epidemiological and clinical information. Data will be anonymised to ensure participants’ protection. We hope to create the largest international cohort of people with such rare conditions. Data on epidemiology and natural history will be generated, supporting knowledge about these rare disorders. We hope to increase awareness of these disorders and the website will signpost patients and clinicians to diagnostic and clinical centres of excellence across Europe. We plan to develop standards of care which will be posted on the website and we hope that the registry will be the gateway to future large scale multi-centre clinial trials. The EUROMAC is an international registry for patients with McArdle disease and other rare glyco (geno) lytic disorders presenting with exercise intolerance and it is open to all EU residents. Further information is presented online in the EUROMAC website http://euromacregistry.eu/. We seek to recruit as many European partners as possible and welcome collaborators and volunteers both from health services and patient support organisations. http://dx.doi:10.1016/j.nmd.2014.06.321
G.P.246 Prevalence of neuromuscular disorders in the paediatric population in Yorkshire: Variation by ethnicity I. Woodcock 1, K. Pysden 2, S. Manning 2, L.K. Taylor 3, A.M. Childs 2 1 University of Leeds, Leeds, UK; 2 Leeds Teaching Hospitals, Leeds, UK; 3 University of York, York, UK More severe, early onset neuromuscular disorders (NMD) disorders are associated with a shortened life expectancy and thus prevalence data
Abstracts / Neuromuscular Disorders 24 (2014) 791–924 calculated from the population as a whole may underestimate the prevalence of the more severe NMC seen in childhood. It is not known how prevalence varies with ethnicity. Retrospective case note review of patients under 16 years with a diagnosis of a NMD in 2010, under the care of the tertiary regional service. Cases were ascertained using existing databases and data was analysed using chi-squared tests. Prevalence was calculated according to the formula prevalence = number of cases/population at risk 100,000. Data was collected from 261 patients. The overall prevalence of NMD in Yorkshire was 35.2 per 100,000 with dystrophin related muscle disease being the most common condition with a prevalence of 16.9 per 100,000 males. There was a statistically significant difference between ethnic groups with a total NMD prevalence of 90.2/100,000 in the South Asian population compared to a prevalence of 29.0/100,000 in the White population (p < 0.001). The increase in prevalence of non-dystrophin related NMC was more marked: 82.2/100,000 South Asian compared to 19.6/100,000 White. Autosomal recessive conditions were twice as common in the South Asian community (p < 0.001). The proportion of children with consanguineous parents in the group with autosomal recessive conditions was higher than those with a non-autosomal recessive inheritance pattern (p < 0.001). The prevalence of neuromuscular conditions in Yorkshire children was comparable to previously published data. The three fold increase in prevalence of all neuromuscular conditions, particularly recessive disorders, in the South Asian population has not been previously reported. This community has a greater need for subspecialist services and resources. http://dx.doi:10.1016/j.nmd.2014.06.322
G.P.247 International Clinical Outcome Study in Dysferlinopathy (COS): Results of screening questionnaires in UK patients E.A. Harris, K. Bettinson, M. James, A. Mayhew, M. Eagle, K. Bushby Newcastle University, Newcastle upon Tyne, UK Mutations in dysferlin cause a variety of phenotypes collectively known as dysferlinopathies, including Limb Girdle Muscular Dystrophy type 2B and Myoshi Myopathy. Although there is currently no treatment for dysferlinopathies there is a need to develop clinically validated outcome measures in dysferlinopathy in preparation for future clinical trials. The International Clinical Outcomes Study for Dysferlinopathy (COS) is a multicentre international study, funded by The Jain Foundation and sponsored by Newcastle upon Tyne NHS Foundation Trust, which aims to develop and validate clinical outcome measures in addition to collecting natural history data. The recruitment target of 150 patients has now been successfully achieved, with a total of 193 patients recruited in 14 centres worldwide, including 38 UK patients. Data will be collected over 3 years, including physiotherapy and medical assessments, MRI and questionnaires. In this poster we present data from screening questionnaires, including mutations identified and patient-reported details of disease presentation in all 38 UK patients. In total 49 different mutations were identified. Mean age at symptom onset was 22.3 years and mean time to subsequent diagnosis was 6.1 years. Polymyositis was initially incorrectly diagnosed in 6/38 patients. Lower limbs were the most common first affected area (23/38), and muscle weakness the most frequent first symptom (20/38). This data confirms that dysferlinopathies primarily present in young adulthood, often initially with lower limb symptoms, and are associated with significant allelic heterogeneity. Completion of this study and subsequent analyses will enhance our understanding of the natural history this variable condition. http://dx.doi:10.1016/j.nmd.2014.06.323
891
G.P.248 Clinical trial readiness of paediatric neuromuscular patients in Ireland A.R. Foley 1, C. Coman 2, A. Tobin 2, N. Kehoe 2, B. Shinners 2, A. Timothy 2, M. McGrath 2, M. Goode 3, B. Lynch 1 1 Children’s University Hospital, Temple Street, Dublin, Ireland; 2 Central Remedial Clinic, Dublin, Ireland; 3 Muscular Dystrophy Ireland, Dublin, Ireland An estimated 85–90% of all paediatric neuromuscular patients in the Republic of Ireland are followed at one neuromuscular centre, located at the Central Remedial Clinic, Dublin, resulting in centralised and coordinated care for the vast majority of Irish paediatric neuromuscular patients. The neuromuscular cohort followed by two neuromuscular specialists at this main centre totals 183 patients (ages 4 months–25 years), and the most common molecularly confirmed diagnoses are: Duchenne muscular dystrophy (n = 61), myotonic dystrophy (n = 16), spinal muscular atrophy (n = 14), merosin deficient congenital muscular dystrophy (n = 8), RYR1-related myopathy (n = 4) and collagen VI-related myopathy (n = 3). Future clinical trials for Duchenne muscular dystrophy, spinal muscular atrophy, merosin deficient congenital muscular dystrophy and collagen VI-related myopathies are presently in planning stages. Given the molecular characterization of these Irish patient cohorts, their close pulmonary and cardiology surveillance and their six monthly neuromuscular clinic assessments, these neuromuscular patient subgroups are clinical trial ready. Furthermore, the Central Remedial Clinic, Dublin, Ireland provides an ideal setting for future clinical trials, with its highly-trained and large-sized physiotherapy and occupational therapy teams, adequate space and facilities for motor function testing and the availability of support and nursing staff. Presently for neuromuscular patients in Ireland, participation in clinical trials would require that they travel to the United Kingdom, which is costly as well as burdensome for neuromuscular patients and their families. Given the availability of neuromuscular clinical expertise, an excellent facility for coordinated neuromuscular care and motor assessments and the commitment of patients and their families to participate in upcoming clinical trials, establishing a neuromuscular clinical trial site in Dublin is an achievable and important goal. http://dx.doi:10.1016/j.nmd.2014.06.324
G.P.249 Frequency of multisystem abnormalities among Czech patients with myotonic dystrophy O. Parmova 1, S. Vohanka 1, J. Strenkova 2 1 University Hospital and Masaryk University, Brno, Czech Republic; 2 Masaryk University, Brno, Czech Republic Myotonic dystrophy (DM) is a multisystem disorder characterized by skeletal muscle and multiple organ impairment. The aim of the study is to compare our local data from the registry with that known in other countries. The data from the local part of Czech national registry of myotonic dystrophy including focused questionnaires were evaluated. The population consists of 107 patients: 28 DM type 1 mean age 42.6 (range, 23–63), 79 DM type 2 mean age 54.1 (range, 22–76); 67 females and 40 males. One of the most common complaints of patients was muscle pain. Long-term prevalence of muscle pain occurred in 63.6% of patients (71.4% of DM type 1 and 60.8% of DM type 2). Half of the patients (52.4%) suffered from excessive daytime sleepiness in varying degree of intensity. Cognitive dysfunction had 8.6% of our patients, but mostly in DM type 1. Diabetes mellitus or impaired glucose tolerance were found in 21.5% of patients and thyroid dysfunction in 17.4%. Increased sweating indicated 44.8% of patients. Dysphagia was found in 27.8% and 55.8% of patients had fecal incontinence (15.1% was never
Abstracts / Neuromuscular Disorders 24 (2014) 791–924
aim of this study was to describe ambulation levels and orthoses usage in different SMA types. Eighty-one patients (44 boys, 37 girls) diagnosed with Spinal Muscular Atrophy were analyzed. The group was consisted of 47 SMA Type 2, 24 SMA Type 3, 7 SMA Type 1 and 3 SMA Intermediate Type patients. Orthoses use and ambulation levels were recorded. None of the SMA Type 1 patients used orthoses and they were all nonambulant. 21 of SMA Type 2 patients (44,6%) were using different orthoses [10 Ankle Foot Orthoses (AFO), 10 Knee-Ankle–Foot-Orthoses (KAFO), 5 trunk support, 2 standing frame). Three (14.2%) of 21 SMA Type 2 patients were ambulatory independently, 8 (38%) ambulatory with orthoses, 7 (33.3%) with wheelchair and 3 (14.2%) non-ambulant. In SMA Type 3 group, 10 (41.6%) were using orthoses (7 AFO, 2 KAFO, 3 insoles, 1 body support, 1 sitting device), and 14 (58.3%) patients were not using any device for ambulation. Eighteen (75%) SMA Type 3 patients were ambulatory independently, 3 (12.5%) were ambulatory with support, 2 (8.3%) were ambulatory with wheelchair and 1 (4.1%) was nonambulatory. In SMA intermediate Type group, 2 (66.6%) of the patients were using orthoses (2 AFO, 1 insole). They were ambulatory independently. Clinical type is determinative for orthoses need in SMA. In this study, it is concluded that the SMA type 2 patients rehabilitating in sitting level have more orthoses need and orthoses variety than other types. http://dx.doi:10.1016/j.nmd.2014.06.319
REGISTRIES AND DATABASES G.P.244 The development and implementation of a Managed Clinical Neuromuscular Network in the Southwest of the United Kingdom. The first five years A. Majumdar 1, K. Vijayakumar 1, A. Merrison 1, E. Househam 2 1 University Hospital Bristol, Bristol, UK; 2 Derriford Hospital, Plymouth, UK The southwest of the UK covers a population of 5.5 million and its geography is in the shape of a peninsula of a distance of 250 miles. Within this region are two major cities (Bristol and Plymouth) and a number of smaller towns. There are estimated to be 6660 adults and children with neuromuscular disorders (by ICD codes) in the region. Before the neuromuscular network was set up in 2009, it was found that the families affected by NM conditions had very patchy high quality care and there was a great deal of regional inequity in the provision of neuromuscular expertise. In addition to this, patients would have to travel huge distances to other major centres in order to receive care. The mean survival of a boy with Duchenne Muscular dystrophy was found to be 19 years of age which was significantly lower than survival in other parts in the UK. A successful business case was submitted to Specialist Commissioning of the UK National Health Service and funding of £1.1 million was provided. This funding has allowed for the development of a managed clinical network to ensure that the patients (all ages) with NM conditions received equitable and high quality care, near to where they lived. It is hoped that in the long run, it will increase the survival and the quality of life of those affected by NM conditions in the Southwest of the UK. http://dx.doi:10.1016/j.nmd.2014.06.320
G.P.245 Exercise related muscle disorders: The EUROMAC Registry for McArdle disease and other rare glycogenolytic disorders R.S. Scalco 1, R. Quinlivan 1, R. Martin 2, N. Baruch 2, M. Martin 3, C. Navarra 4, A. Martinuzzi 5, C. Bruno 6, P. Laforet 7, K. Sperber 7, S. Sacconi 8, A. Wakelin 9, G. Hadjigeorgiou 10, J. Vissing 11, M. Vorgerd 12, R. Haller 13, Z. Oflazer 14, J. Pouget 15, A. Lucia 16, T. Andreu 17, A. Toscano 18, O. Musumeci 18 1 National Hospital for Neurology and Neurosurgery, London, UK; 2 Vall D’Hebron Research Institute, Barcelona, Spain; 3 University 12 de Octobre, Madrid, Spain; 4 Institute of Biomedical Research of Vigo, Vigo, Spain; 5 E. Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy; 6 University of Genova, Genova, Italy; 7 Assistance Publique Hoˆpitaux de Paris, Paris, France; 8 University of Nice, Nice, France; 9 Association for Glycogen Storage Disorders, London, UK; 10 University of Thessaly, Volos, Greece; 11 Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; 12 University Clinic Bergmannsheil, Bochum, Germany; 13 Institute for Exercise and Environmental Medicine, Dallas, USA; 14 Istambul University, Istambul, Turkey; 15 Hoˆpitaux de Marseille, Marseille, France; 16 Universidad Europea de Madrid, Madrid, Spain; 17 Insttituto de Salud Carlos III, Madrid, Spain; 18 University of Messina, Italy The European Union has funded the development of a new disease registry for McArdle disease and other rare glyco (geno) lytic disorders presenting with exercise intolerance. The aim of the project is to identify as many patients as possible across all European countries and to collect important natural history and epidemiological data. Clinicians working in the European Union (EU) and patients with McArdle disease or other rare glyco (geno) lytic disorders presenting with exercise intolerance from the EU are able to participate in this project. Registration is via a secure web platform accessed through the EUROMAC website http://euromacregistry.eu/. Both patients and doctors will need to supply epidemiological and clinical information. Data will be anonymised to ensure participants’ protection. We hope to create the largest international cohort of people with such rare conditions. Data on epidemiology and natural history will be generated, supporting knowledge about these rare disorders. We hope to increase awareness of these disorders and the website will signpost patients and clinicians to diagnostic and clinical centres of excellence across Europe. We plan to develop standards of care which will be posted on the website and we hope that the registry will be the gateway to future large scale multi-centre clinial trials. The EUROMAC is an international registry for patients with McArdle disease and other rare glyco (geno) lytic disorders presenting with exercise intolerance and it is open to all EU residents. Further information is presented online in the EUROMAC website http://euromacregistry.eu/. We seek to recruit as many European partners as possible and welcome collaborators and volunteers both from health services and patient support organisations. http://dx.doi:10.1016/j.nmd.2014.06.321
G.P.246 Prevalence of neuromuscular disorders in the paediatric population in Yorkshire: Variation by ethnicity I. Woodcock 1, K. Pysden 2, S. Manning 2, L.K. Taylor 3, A.M. Childs 2 1 University of Leeds, Leeds, UK; 2 Leeds Teaching Hospitals, Leeds, UK; 3 University of York, York, UK More severe, early onset neuromuscular disorders (NMD) disorders are associated with a shortened life expectancy and thus prevalence data
Abstracts / Neuromuscular Disorders 24 (2014) 791–924 calculated from the population as a whole may underestimate the prevalence of the more severe NMC seen in childhood. It is not known how prevalence varies with ethnicity. Retrospective case note review of patients under 16 years with a diagnosis of a NMD in 2010, under the care of the tertiary regional service. Cases were ascertained using existing databases and data was analysed using chi-squared tests. Prevalence was calculated according to the formula prevalence = number of cases/population at risk 100,000. Data was collected from 261 patients. The overall prevalence of NMD in Yorkshire was 35.2 per 100,000 with dystrophin related muscle disease being the most common condition with a prevalence of 16.9 per 100,000 males. There was a statistically significant difference between ethnic groups with a total NMD prevalence of 90.2/100,000 in the South Asian population compared to a prevalence of 29.0/100,000 in the White population (p < 0.001). The increase in prevalence of non-dystrophin related NMC was more marked: 82.2/100,000 South Asian compared to 19.6/100,000 White. Autosomal recessive conditions were twice as common in the South Asian community (p < 0.001). The proportion of children with consanguineous parents in the group with autosomal recessive conditions was higher than those with a non-autosomal recessive inheritance pattern (p < 0.001). The prevalence of neuromuscular conditions in Yorkshire children was comparable to previously published data. The three fold increase in prevalence of all neuromuscular conditions, particularly recessive disorders, in the South Asian population has not been previously reported. This community has a greater need for subspecialist services and resources. http://dx.doi:10.1016/j.nmd.2014.06.322
G.P.247 International Clinical Outcome Study in Dysferlinopathy (COS): Results of screening questionnaires in UK patients E.A. Harris, K. Bettinson, M. James, A. Mayhew, M. Eagle, K. Bushby Newcastle University, Newcastle upon Tyne, UK Mutations in dysferlin cause a variety of phenotypes collectively known as dysferlinopathies, including Limb Girdle Muscular Dystrophy type 2B and Myoshi Myopathy. Although there is currently no treatment for dysferlinopathies there is a need to develop clinically validated outcome measures in dysferlinopathy in preparation for future clinical trials. The International Clinical Outcomes Study for Dysferlinopathy (COS) is a multicentre international study, funded by The Jain Foundation and sponsored by Newcastle upon Tyne NHS Foundation Trust, which aims to develop and validate clinical outcome measures in addition to collecting natural history data. The recruitment target of 150 patients has now been successfully achieved, with a total of 193 patients recruited in 14 centres worldwide, including 38 UK patients. Data will be collected over 3 years, including physiotherapy and medical assessments, MRI and questionnaires. In this poster we present data from screening questionnaires, including mutations identified and patient-reported details of disease presentation in all 38 UK patients. In total 49 different mutations were identified. Mean age at symptom onset was 22.3 years and mean time to subsequent diagnosis was 6.1 years. Polymyositis was initially incorrectly diagnosed in 6/38 patients. Lower limbs were the most common first affected area (23/38), and muscle weakness the most frequent first symptom (20/38). This data confirms that dysferlinopathies primarily present in young adulthood, often initially with lower limb symptoms, and are associated with significant allelic heterogeneity. Completion of this study and subsequent analyses will enhance our understanding of the natural history this variable condition. http://dx.doi:10.1016/j.nmd.2014.06.323
891
G.P.248 Clinical trial readiness of paediatric neuromuscular patients in Ireland A.R. Foley 1, C. Coman 2, A. Tobin 2, N. Kehoe 2, B. Shinners 2, A. Timothy 2, M. McGrath 2, M. Goode 3, B. Lynch 1 1 Children’s University Hospital, Temple Street, Dublin, Ireland; 2 Central Remedial Clinic, Dublin, Ireland; 3 Muscular Dystrophy Ireland, Dublin, Ireland An estimated 85–90% of all paediatric neuromuscular patients in the Republic of Ireland are followed at one neuromuscular centre, located at the Central Remedial Clinic, Dublin, resulting in centralised and coordinated care for the vast majority of Irish paediatric neuromuscular patients. The neuromuscular cohort followed by two neuromuscular specialists at this main centre totals 183 patients (ages 4 months–25 years), and the most common molecularly confirmed diagnoses are: Duchenne muscular dystrophy (n = 61), myotonic dystrophy (n = 16), spinal muscular atrophy (n = 14), merosin deficient congenital muscular dystrophy (n = 8), RYR1-related myopathy (n = 4) and collagen VI-related myopathy (n = 3). Future clinical trials for Duchenne muscular dystrophy, spinal muscular atrophy, merosin deficient congenital muscular dystrophy and collagen VI-related myopathies are presently in planning stages. Given the molecular characterization of these Irish patient cohorts, their close pulmonary and cardiology surveillance and their six monthly neuromuscular clinic assessments, these neuromuscular patient subgroups are clinical trial ready. Furthermore, the Central Remedial Clinic, Dublin, Ireland provides an ideal setting for future clinical trials, with its highly-trained and large-sized physiotherapy and occupational therapy teams, adequate space and facilities for motor function testing and the availability of support and nursing staff. Presently for neuromuscular patients in Ireland, participation in clinical trials would require that they travel to the United Kingdom, which is costly as well as burdensome for neuromuscular patients and their families. Given the availability of neuromuscular clinical expertise, an excellent facility for coordinated neuromuscular care and motor assessments and the commitment of patients and their families to participate in upcoming clinical trials, establishing a neuromuscular clinical trial site in Dublin is an achievable and important goal. http://dx.doi:10.1016/j.nmd.2014.06.324
G.P.249 Frequency of multisystem abnormalities among Czech patients with myotonic dystrophy O. Parmova 1, S. Vohanka 1, J. Strenkova 2 1 University Hospital and Masaryk University, Brno, Czech Republic; 2 Masaryk University, Brno, Czech Republic Myotonic dystrophy (DM) is a multisystem disorder characterized by skeletal muscle and multiple organ impairment. The aim of the study is to compare our local data from the registry with that known in other countries. The data from the local part of Czech national registry of myotonic dystrophy including focused questionnaires were evaluated. The population consists of 107 patients: 28 DM type 1 mean age 42.6 (range, 23–63), 79 DM type 2 mean age 54.1 (range, 22–76); 67 females and 40 males. One of the most common complaints of patients was muscle pain. Long-term prevalence of muscle pain occurred in 63.6% of patients (71.4% of DM type 1 and 60.8% of DM type 2). Half of the patients (52.4%) suffered from excessive daytime sleepiness in varying degree of intensity. Cognitive dysfunction had 8.6% of our patients, but mostly in DM type 1. Diabetes mellitus or impaired glucose tolerance were found in 21.5% of patients and thyroid dysfunction in 17.4%. Increased sweating indicated 44.8% of patients. Dysphagia was found in 27.8% and 55.8% of patients had fecal incontinence (15.1% was never