The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
Rigmor Jensen - One of the best experts on this subject based on the ideXlab platform.
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pathophysiological mechanisms of tension type headache a review of epidemiological and experimental studies
Cephalalgia, 1999Co-Authors: Rigmor JensenAbstract:Despite the fact that tension-type headache is _-_ _ by far . _ the most common type of headache (1, 2), the knowledge about key pathophysiological issues, such as the nature and the site of the noxious stimulus, is surprisingly limited. Several factors may have contributed to this lack of knowledge. One main reason is the previous lack of a proper classification. before 1988 no precise definition of tension-type headache was available, and terms such as muscle contraction headache, tension headache, psychogenic headache, psychomyogenic, or stress headache were used. Furthermore, since mental stress and tension are the most frequently reported precipitants of tension-type headache (24), many scientists equalized this with causative factors and have not tried to describe the pathophysiology and mechanisms behind the disorder. Tension-type headache is also a graded phenomenon in which pain severity increases with headache frequency. At one extreme are rare episodes of slight pain and discomfort in the head; at the other are daily, disabling headaches with considerable social and personal impact (5). Due to this, and also to the very high prevalence, tension-type headache may be regarded as the most important type of headache. In the International Headache Classification (IHS) from 1988 (6) tension-type headache has been precisely classified and defined by means of operational criteria (Table 1). The first digit defines tension-type headache according to its clinical features. The second digit subdivides the headache according to its frequency into an episodic and a chronic form. The third digit in the classification characterizes the presence or absence of Disorders of pericranial muscle, while the fourth digit concerns possible causative factors. This subdivision was developed mainly on the basis of the experience of a group of experts and not on the basis of scientific evidence, which at that time was very limited. On this background, a method study of electromyographic (EMG) recordings (7) and a large-scale epidemiological study including a number of paraclinical tests (812) were performed. Further data concerning the pathogenic importance of Muscular Disorders in tension-type headache was obtained from two studies of spontaneous and induced headaches (13, 14). The aim of the present review was to relate the obtained results from the epidemiological and clinical studies to other relevant studies, and to discuss possible pathophysiological mechanisms of tension-type headache.
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Muscular factors are of importance in tension type headache
Headache, 1998Co-Authors: Rigmor Jensen, Lars Bendtsen, Jes OlesenAbstract:Recent studies have indicated that Muscular Disorders may be of importance for the development of increased pain sensitivity in patients with chronic tension-type headache. The objective of the present study was to investigate this hypothesis by examining the pain perception in tension-type headache with and without Muscular Disorders defined as increased tenderness. We examined 28 patients with episodic tension-type headache, 28 patients with chronic tension-type headache, and 30 healthy controls. Pericranial myofascial tenderness was recorded with manual palpation, and pressure pain detection and tolerances in cephalic and extracephalic locations with an electronic pressure algometer. In addition, thermal pain sensitivity and electromyographic activity were recorded. The main result was significantly lower pressure pain detection thresholds and tolerances in all the examined locations in patients with chronic tension-type headache with a Muscular disorder compared to those without a Muscular disorder. There were no such differences in any of the examined locations when the two subgroups of patients with episodic tension-type headache were compared. Thermal pain sensitivity did not differ between patients with and without a Muscular disorder, while electromyographic activity levels were significantly higher in patients with chronic tension-type headache with than in those without a Muscular disorder. Our results strongly indicate that prolonged nociceptive stimuli from the pericranial myofascial tissue sensitize the central nervous system and, thereby, lead to an increased general pain sensitivity. Muscular factors may, therefore, be of major importance for the conversion of episodic into chronic tension-type headache. The present study complements the understanding of the important interactions between peripheral and central factors in tension-type headache and may lead to a better prevention and treatment of the most prevalent type of headache.
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Muscular Disorders in tension type headache
Cephalalgia, 1996Co-Authors: Rigmor Jensen, Birthe Krogh RasmussenAbstract:In order to evaluate the diagnostic criteria for Muscular Disorders in tension-type headache, pericranial muscle tenderness and pressure pain thresholds were studied in a random sample population of 735 adults aged 25-64. In addition, quantitative EMGs were recorded in 547 of these subjects. The correlation between the three diagnostic tests was assessed and the discriminality and cut-off points were analysed using Receiver Operating Characteristics analysis. Local tenderness from the temporal muscles was closely related to the total tenderness scores from 14 pairs of muscles. In chronic tension-type headache, tenderness was positively related to EMG and inversely related to pain thresholds. In the episodic from the total tenderness score was inversely related to pain thresholds, whereas no significant relation to EMG was noted. The Receiver Operating Characteristics curves indicated that tenderness recorded by manual palpation was the most specific and sensitive test, whereas EMG and pain thresholds were of limited diagnostic value. Eighty-seven percent of subjects with the chronic, and 66% of subjects with the episodic form were found to have a "Muscular disorder" defined as increased tenderness recorded by either manual palpation or pressure algometry and/or increased EMG levels. However, muscle tenderness increased significantly during pain, so the headache state should be considered in future studies. Suggestions for revision of the present diagnostic criteria for Muscular Disorders are given.
Hanns Lochmuller - One of the best experts on this subject based on the ideXlab platform.
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patient registries and trial readiness in myotonic dystrophy treat nmd marigold international workshop report
Neuromuscular Disorders, 2009Co-Authors: Rachel Thompson, Benedikt Schoser, Darren G Monckton, Karla Blonsky, Hanns LochmullerAbstract:A workshop entitled Patient Registries and Trial Readiness in Myotonic Dystrophy, jointly sponsored by TREAT-NMD (www.treat-nmd.eu) and the Marigold Foundation (www. marigoldfoundation.org), was held from 12 to 14 June 2009 in Naarden, The Netherlands. The twenty-six participants represented eight countries and included scientists, clinicians, patient representatives and industry. The workshop built on the foundations established in two previous ENMC workshops on myotonic dystrophy and the myotonic dystrophy clinical working group set up by the Marigold Foundation, and took advantage of the tools developed within the TREAT-NMD network for patient registries and outcome measures. Opening remarks from the workshop organizers, Hanns Lochmuller (TREAT-NMD) and Karla Blonsky (Marigold Foundation), showed that in recent years the need to collect patient data in a harmonized manner across multiple countries has become increasingly evident in the rare disease field, where locating patients suitable for a particular trial or therapy poses a particular challenge. Baziel van Engelen summarized previous ENMC (European NeuroMuscular Centre) workshops on DM1 [1] which identified the need for international collaborations on outcome measures, natural history, patient registries and clinical trials. The present workshop also drew on the conclusions of the 157th ENMC International Workshop: Patient registries for rare, inherited Muscular Disorders, 25–27 January 2008 [2].
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157th enmc international workshop patient registries for rare inherited Muscular Disorders 25 27 january 2008 naarden the netherlands
Neuromuscular Disorders, 2008Co-Authors: A Sarkozy, Kate Bushby, Christophe Beroud, Hanns LochmullerAbstract:Twenty participants, including bioinformatics experts, geneticists, neurologists, paediatricians and representatives of patient advocacy organizations, from eight countries, met in Naarden from 25th to 27th January 2008 to review patients’ registries for rare, inherited neuroMuscular Disorders (NMDs). Inherited NMDs form a large group of diseases each of which is individually rare (prevalence < 5/10,000), most of which result in chronic long-term disability posing a significant health care burden for society. Currently none of these conditions benefit from curative treatments. Molecular genetic advances and knowledge of disease-causing genes have allowed the development of specific diagnostic tests for many types of NMDs, as well as the elucidation of the underlying molecular pathological mechanisms, leading to plans for specific gene-based therapies or targeted pharmaceutical approaches. Some of these treatment options are beginning to move to limited human studies. These developments have exposed the lack of harmonisation of approaches and infrastructures to possible beneficial therapeutics in NMDs, which is delaying or even preventing a smooth move into clinical trials. Most innovative therapies for patients suffering from rare NMDs are expected to act on gene-specific molecular pathways. In some areas, for example current approaches to Duchenne Muscular dystrophy (DMD), the specific mutation will determine the applicability of a particular therapeutic technique [1]. European or global resources are therefore necessary to identify patients suitable for these therapies. Gene-based patient registries are useful tools to overcome fragmentation and to facilitate research for a number of goals: epidemiology, genotype–phenotype correlation, natural history, standards of care, etc. Moreover, they greatly facilitate feasibility studies for and recruitment into clinical trials. Currently, European and global efforts to set up patient registries are mainly targeted towards DMD and spinal Muscular atrophy (SMA), though other less frequent inherited muscle Disorders would certainly benefit from similar concerted action and resources sharing. For
Benedikt Schoser - One of the best experts on this subject based on the ideXlab platform.
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Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype
European Journal of Human Genetics, 2016Co-Authors: Mirjam Larsen, Benedikt Schoser, Wolfram Kress, Ute Hehr, Clemens R Müller, Simone RostAbstract:The myotonic dystrophies (DMs) are the most common inherited Muscular Disorders in adults. In most of the cases, the disease is caused by (CTG)_ n /(CCTG)_ n repeat expansions (EXPs) in non-coding regions of the genes DMPK (dystrophia myotonica-protein kinase) and CNBP (CCHC-type zinc-finger nucleic acid-binding protein). The EXP is transcribed into mutant RNAs, which provoke a common pathomechanism that is characterized by misexpression and mis-splicing. In this study, we screened 138 patients with typical clinical features of DM being negative for EXP in the known genes. We sequenced DMPK and CNBP – associated with DM, as well as CELF1 (CUGBP, Elav-like family member 1) and MBNL1 (muscleblind-like splicing regulator 1) – associated with the pathomechanism of DM, for pathogenic variants, addressing the question whether defects in other genes could cause a DM-like phenotype. We identified variants in three unrelated patients in the MBNL1 gene, two of them were heterozygous missense mutations and one an in-frame deletion of three amino acids. The variants were located in different conserved regions of the protein. The missense mutations were classified as potentially pathogenic by prediction tools. Analysis of MBNL1 splice target genes was carried out for one of the patients using RNA from peripheral blood leukocytes (PBL). Analysis of six genes known to show mis-splicing in the skeletal muscle gave no informative results on the effect of this variant when tested in PBL. The association of these variants with the DM phenotype therefore remains unconfirmed, but we hope that in view of the key role of MBNL1 in DM pathogenesis our observations may foster further studies in this direction.
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Reducing Body Myopathy and Other FHL1-Related Muscular Disorders
Seminars in pediatric neurology, 2011Co-Authors: Joachim Schessl, C. Kubny, S. Feldkirchner, Benedikt SchoserAbstract:During the past 2 years, considerable progress in the field of four and a half LIM domain protein 1 (FHL1)-related myopathies has led to the identification of a growing number of FHL1 mutations. This genetic progress has uncovered crucial pathophysiological concepts, thus redefining clinical phenotypes. Important new characterizations include 4 distinct human myopathies: reducing body myopathy, X-linked myopathy with postural muscle atrophy, Emery-Dreifuss Muscular dystrophy, and scapuloperoneal myopathy. Additionally, FHL1 mutations have been discovered in rigid spine syndrome and in a single family with contractures, rigid spine, and cardiomyopathy. In this review, we focus on the clinical phenotypes, which we correlate with the novel genetic and histological findings encountered within FHL1-related myopathies. This correlation will frequently lead to a considerably expanded clinical spectrum associated with a given FHL1 mutation.
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patient registries and trial readiness in myotonic dystrophy treat nmd marigold international workshop report
Neuromuscular Disorders, 2009Co-Authors: Rachel Thompson, Benedikt Schoser, Darren G Monckton, Karla Blonsky, Hanns LochmullerAbstract:A workshop entitled Patient Registries and Trial Readiness in Myotonic Dystrophy, jointly sponsored by TREAT-NMD (www.treat-nmd.eu) and the Marigold Foundation (www. marigoldfoundation.org), was held from 12 to 14 June 2009 in Naarden, The Netherlands. The twenty-six participants represented eight countries and included scientists, clinicians, patient representatives and industry. The workshop built on the foundations established in two previous ENMC workshops on myotonic dystrophy and the myotonic dystrophy clinical working group set up by the Marigold Foundation, and took advantage of the tools developed within the TREAT-NMD network for patient registries and outcome measures. Opening remarks from the workshop organizers, Hanns Lochmuller (TREAT-NMD) and Karla Blonsky (Marigold Foundation), showed that in recent years the need to collect patient data in a harmonized manner across multiple countries has become increasingly evident in the rare disease field, where locating patients suitable for a particular trial or therapy poses a particular challenge. Baziel van Engelen summarized previous ENMC (European NeuroMuscular Centre) workshops on DM1 [1] which identified the need for international collaborations on outcome measures, natural history, patient registries and clinical trials. The present workshop also drew on the conclusions of the 157th ENMC International Workshop: Patient registries for rare, inherited Muscular Disorders, 25–27 January 2008 [2].
Kate Bushby - One of the best experts on this subject based on the ideXlab platform.
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157th enmc international workshop patient registries for rare inherited Muscular Disorders 25 27 january 2008 naarden the netherlands
Neuromuscular Disorders, 2008Co-Authors: A Sarkozy, Kate Bushby, Christophe Beroud, Hanns LochmullerAbstract:Twenty participants, including bioinformatics experts, geneticists, neurologists, paediatricians and representatives of patient advocacy organizations, from eight countries, met in Naarden from 25th to 27th January 2008 to review patients’ registries for rare, inherited neuroMuscular Disorders (NMDs). Inherited NMDs form a large group of diseases each of which is individually rare (prevalence < 5/10,000), most of which result in chronic long-term disability posing a significant health care burden for society. Currently none of these conditions benefit from curative treatments. Molecular genetic advances and knowledge of disease-causing genes have allowed the development of specific diagnostic tests for many types of NMDs, as well as the elucidation of the underlying molecular pathological mechanisms, leading to plans for specific gene-based therapies or targeted pharmaceutical approaches. Some of these treatment options are beginning to move to limited human studies. These developments have exposed the lack of harmonisation of approaches and infrastructures to possible beneficial therapeutics in NMDs, which is delaying or even preventing a smooth move into clinical trials. Most innovative therapies for patients suffering from rare NMDs are expected to act on gene-specific molecular pathways. In some areas, for example current approaches to Duchenne Muscular dystrophy (DMD), the specific mutation will determine the applicability of a particular therapeutic technique [1]. European or global resources are therefore necessary to identify patients suitable for these therapies. Gene-based patient registries are useful tools to overcome fragmentation and to facilitate research for a number of goals: epidemiology, genotype–phenotype correlation, natural history, standards of care, etc. Moreover, they greatly facilitate feasibility studies for and recruitment into clinical trials. Currently, European and global efforts to set up patient registries are mainly targeted towards DMD and spinal Muscular atrophy (SMA), though other less frequent inherited muscle Disorders would certainly benefit from similar concerted action and resources sharing. For
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117th enmc workshop ventilatory support in congenital neuroMuscular Disorders congenital myopathies congenital Muscular dystrophies congenital myotonic dystrophy and sma ii 4 6 april 2003 naarden the netherlands
Neuromuscular Disorders, 2004Co-Authors: Carina Wallgrenpettersson, Kate Bushby, Uwe Mellies, Anita K SimondsAbstract:Eighteen participants from Australia, Austria, Denmark, Finland, France, Germany, The Netherlands, the UK, and the USA met in Naarden, representing a variety of disciplines with experience in the respiratory management of patients with neuroMuscular Disorders (NMD). The aims of the workshop were to agree upon and report minimum recommendations for the investigation and treatment of respiratory involvement in congenital Muscular Disorders, and to identify areas where further research is needed. The workshop specifically excluded patients with Duchenne Muscular dystrophy where evidence for the need for and efficacy of the treatment of respiratory failure is better established. All participants contributed to the review and assessment of published evidence in the field, and current practice amongst the group was also compared. Despite the individual rarity of the conditions under consideration in this workshop, the accumulated experience of the group represented the care of more than 545 patients with these Disorders, of whom around one-third were receiving mechanical ventilation.
Anita K Simonds - One of the best experts on this subject based on the ideXlab platform.
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117th enmc workshop ventilatory support in congenital neuroMuscular Disorders congenital myopathies congenital Muscular dystrophies congenital myotonic dystrophy and sma ii 4 6 april 2003 naarden the netherlands
Neuromuscular Disorders, 2004Co-Authors: Carina Wallgrenpettersson, Kate Bushby, Uwe Mellies, Anita K SimondsAbstract:Eighteen participants from Australia, Austria, Denmark, Finland, France, Germany, The Netherlands, the UK, and the USA met in Naarden, representing a variety of disciplines with experience in the respiratory management of patients with neuroMuscular Disorders (NMD). The aims of the workshop were to agree upon and report minimum recommendations for the investigation and treatment of respiratory involvement in congenital Muscular Disorders, and to identify areas where further research is needed. The workshop specifically excluded patients with Duchenne Muscular dystrophy where evidence for the need for and efficacy of the treatment of respiratory failure is better established. All participants contributed to the review and assessment of published evidence in the field, and current practice amongst the group was also compared. Despite the individual rarity of the conditions under consideration in this workshop, the accumulated experience of the group represented the care of more than 545 patients with these Disorders, of whom around one-third were receiving mechanical ventilation.
