Publications by authors named "Peter Y K Van den Bergh"

23 Publications

  • Page 1 of 1

European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision.

Eur J Neurol 2021 Jul 30. Epub 2021 Jul 30.

Department of Pediatrics, Yeditepe University, İstanbul, Turkey.

Objective: To revise the 2010 consensus guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).

Methods: Seventeen disease experts, a patient representative, and two Cochrane methodologists constructed 12 Population/Intervention/Comparison/Outcome (PICO) questions regarding diagnosis and treatment to guide the literature search. Data were extracted and summarized in GRADE summary of findings (for treatment PICOs) or evidence tables (for diagnostic PICOs).

Results: Statements were prepared according to the GRADE Evidence-to-Decision frameworks. Typical CIDP and CIDP variants were distinguished. The previous term "atypical CIDP" was replaced by "CIDP variants" because these are well characterized entities (multifocal, focal, distal, motor, or sensory CIDP). The levels of diagnostic certainty were reduced from three (definite, probable, possible CIDP) to only two (CIDP and possible CIDP), because the diagnostic accuracy of criteria for probable and definite CIDP did not significantly differ. Good Practice Points were formulated for supportive criteria and investigations to be considered to diagnose CIDP. The principal treatment recommendations were: (a) intravenous immunoglobulin (IVIg) or corticosteroids are strongly recommended as initial treatment in typical CIDP and CIDP variants; (b) plasma exchange is strongly recommended if IVIg and corticosteroids are ineffective; (c) IVIg should be considered as first-line treatment in motor CIDP (Good Practice Point); (d) for maintenance treatment, IVIg, subcutaneous immunoglobulin or corticosteroids are recommended; (e) if the maintenance dose of any of these is high, consider either combination treatments or adding an immunosuppressant or immunomodulatory drug (Good Practice Point); and (f) if pain is present, consider drugs against neuropathic pain and multidisciplinary management (Good Practice Point).
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http://dx.doi.org/10.1111/ene.14959DOI Listing
July 2021

European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision.

J Peripher Nerv Syst 2021 Sep 30;26(3):242-268. Epub 2021 Jul 30.

Department of Pediatrics, Yeditepe University, İstanbul, Turkey.

To revise the 2010 consensus guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Seventeen disease experts, a patient representative, and two Cochrane methodologists constructed 12 Population/Intervention/Comparison/Outcome (PICO) questions regarding diagnosis and treatment to guide the literature search. Data were extracted and summarized in GRADE summary of findings (for treatment PICOs) or evidence tables (for diagnostic PICOs). Statements were prepared according to the GRADE Evidence-to-Decision frameworks. Typical CIDP and CIDP variants were distinguished. The previous term "atypical CIDP" was replaced by "CIDP variants" because these are well characterized entities (multifocal, focal, distal, motor, or sensory CIDP). The levels of diagnostic certainty were reduced from three (definite, probable, possible CIDP) to only two (CIDP and possible CIDP), because the diagnostic accuracy of criteria for probable and definite CIDP did not significantly differ. Good Practice Points were formulated for supportive criteria and investigations to be considered to diagnose CIDP. The principal treatment recommendations were: (a) intravenous immunoglobulin (IVIg) or corticosteroids are strongly recommended as initial treatment in typical CIDP and CIDP variants; (b) plasma exchange is strongly recommended if IVIg and corticosteroids are ineffective; (c) IVIg should be considered as first-line treatment in motor CIDP (Good Practice Point); (d) for maintenance treatment, IVIg, subcutaneous immunoglobulin or corticosteroids are recommended; (e) if the maintenance dose of any of these is high, consider either combination treatments or adding an immunosuppressant or immunomodulatory drug (Good Practice Point); and (f) if pain is present, consider drugs against neuropathic pain and multidisciplinary management (Good Practice Point).
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http://dx.doi.org/10.1111/jns.12455DOI Listing
September 2021

Elucidating autoimmune nodopathies and the CIDP spectrum.

Brain 2021 05;144(4):1043-1045

Department of Neurology, Neuromuscular Reference Centre, University Hospital Saint-Luc, Brussels, Belgium.

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http://dx.doi.org/10.1093/brain/awab116DOI Listing
May 2021

Boundaries of chronic inflammatory demyelinating polyradiculoneuropathy.

J Peripher Nerv Syst 2020 03 4;25(1):4-8. Epub 2020 Feb 4.

Department of Neurology, Johns Hopkins University School of Medicine Meyer 6-181a, North, Wolfe Street, Baltimore, US.

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http://dx.doi.org/10.1111/jns.12364DOI Listing
March 2020

Progress in diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy.

Lancet Neurol 2019 08 7;18(8):784-794. Epub 2019 May 7.

Department of Neurology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. Electronic address:

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare and heterogeneous but treatable immune-mediated neuropathy. Nerve conduction studies are considered essential for a definite diagnosis, but poor performance and misinterpretation of the results frequently leads to misdiagnosis. Nerve ultrasound and MRI could be helpful in diagnosis. Whereas typical CIDP is relatively easy to diagnose, atypical variants with distinct phenotypes can be a diagnostic challenge. Intravenous or subcutaneous immunoglobulin, corticosteroids, and plasma exchange are effective treatments, but maintenance treatments are often required for years, and treatment regimens require careful and regular adjustments to avoid undertreatment or overtreatment. Patients who do not improve, or insufficiently improve after treatment, might have specific characteristics related to a distinct disease mechanism caused by immunoglobulin G4 antibodies to nodal or paranodal proteins, and could require alternative treatments. Future studies should focus on curative and individualised treatment regimens to improve the patient's condition and to prevent further nerve damage.
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http://dx.doi.org/10.1016/S1474-4422(19)30144-9DOI Listing
August 2019

Guillain-BarrÉ syndrome subtype diagnosis: A prospective multicentric European study.

Muscle Nerve 2018 Jan 5. Epub 2018 Jan 5.

Centre de référence des maladies Neuromusculaires et la SLA. Hôpital de la Timone, Marseille, France.

Introduction: There is uncertainty as to whether the Guillain-Barré syndrome (GBS) subtypes, acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN), can be diagnosed electrophysiologically.

Methods: We prospectively included 58 GBS patients. Electrodiagnostic testing (EDX) was performed at means of 5 and 33 days after disease onset. Two traditional and one recent criteria sets were used to classify studies as demyelinating or axonal. Results were correlated with anti-ganglioside antibodies and reversible conduction failure (RCF).

Results: No classification shifts were observed, but more patients were classified as axonal with recent criteria. RCF and anti-ganglioside antibodies were present in both subtypes, more frequently in the axonal subtype.

Discussion: Serial EDX has no effect on GBS subtype proportions. The absence of exclusive correlation with RCF and anti-ganglioside antibodies may challenge the concept of demyelinating and axonal GBS subtypes based upon electrophysiological criteria. Frequent RCF indicates that nodal/paranodal alterations may represent the main pathophysiology. Muscle Nerve, 2018.
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http://dx.doi.org/10.1002/mus.26056DOI Listing
January 2018

Cramp-fasciculation syndrome associated with monofocal motor neuropathy.

Muscle Nerve 2017 Oct 23;56(4):828-832. Epub 2017 Mar 23.

Neuromuscular Reference Center, Cliniques universitaires Saint-Luc Avenue Hippocrate 10/13.11 1200 Brussels, Belgium.

Introduction: Cramp-fasciculation syndrome is a peripheral nerve hyperexcitability disorder, which could be caused by inflammatory neuropathy.

Case Report: We describe a 51-year-old woman who presented with a 4- to 5-year history of fasciculations and painful cramping of the right thenar eminence.

Results: Electrophysiological studies showed motor conduction block in the right median nerve between the axilla and the elbow with fasciculation potentials and cramp discharges on electromyography in the right abductor pollicis brevis muscle. High titers of serum anti-GM1 immunoglobulin M antibodies were detected.

Conclusions: Monofocal motor neuropathy of the right median nerve was diagnosed. Intravenous immunoglobulin treatment led to significant improvement of symptoms and signs. Although fasciculations and cramps have been reported in multifocal motor neuropathy and are considered supporting criteria for the diagnosis, the occurrence of cramp-fasciculation syndrome as the presenting feature and predominant manifestation in monofocal motor neuropathy, a variant of multifocal motor neuropathy, is unique. Muscle Nerve 56: 828-832, 2017.
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http://dx.doi.org/10.1002/mus.25528DOI Listing
October 2017

How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases?

Neuromuscul Disord 2016 Mar 21;26(3):211-20. Epub 2015 Dec 21.

Institute of Neuroscience, Université Catholique de Louvain, Brussels, Belgium; Arsalis SPRL, Glabais, Belgium. Electronic address:

This study aims to investigate the clinimetric properties of ACTIVLIM, a measure of activity limitations, when it is used in daily practice in a large nationwide representative cohort of patients with neuromuscular diseases. A cohort of 2986 patients was assessed at least once over 2 years in 6 national neuromuscular diseases reference centers. Successive Rasch analyses were conducted in order to investigate the scale validity, reliability, consistency across demographic and clinical sub-groups and its sensitivity to change. ACTIVLIM confirmed excellent fit to a unidimensional scale, with stable but 3-times more accurate item calibrations compared to the original publication. It showed a good reliability (R = 0.95), an appropriate targeting for 87% of the sample and an excellent invariance across age, gender, language and time. Despite some variations in the item difficulty hierarchy across diagnoses, ACTIVLIM exhibited a good capability to quantify small but significant changes in activity for various diagnostic groups. Overall, ACTIVLIM demonstrated very good clinimetric properties, allowing accurate quantitative measurement of activity limitations in both children and adults with a variety of neuromuscular diseases.
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http://dx.doi.org/10.1016/j.nmd.2015.12.004DOI Listing
March 2016

Future needs in peripheral neuropathy outcome measures.

J Peripher Nerv Syst 2015 Sep;20(3):341-6

Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1111/jns.12142DOI Listing
September 2015

Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar.

J Peripher Nerv Syst 2015 Sep;20(3):269-76

Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.

The Jamar dynamometer and Vigorimeter have been used to assess grip strength in immune-mediated neuropathies, but have never been compared to each other. Therefore, we performed a comparison study between these two devices in patients with immune-mediated neuropathies. Grip strength data were collected in 102 cross-sectional stable and 163 longitudinal (new diagnoses or changing condition) patients with Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), gammopathy-related polyneuropathy (MGUSP), and multifocal motor neuropathy (MMN). Stable patients were assessed twice (validity/reliability studies). Longitudinal patients were assessed 3-5 times during 1 year. Responsiveness comparison between the two tools was examined using combined anchor-/distribution-based minimum clinically important difference (MCID) techniques. Patients were asked to indicate their preference for the Jamar or Vigorimeter. Both tools correlated highly with each other (ρ = 0.86, p < 0.0001) and showed good intra-class correlation coefficients (Jamar [Right/Left hands]: ICC 0.997/0.96; Vigori: ICC 0.95/0.98). Meaningful changes were comparable between the two instruments, being higher in GBS compared to CIDP patients. In MGUSP/MMN poor responsiveness was seen. Significant more patients preferred the Vigorimeter. In conclusion, validity, reliability, and responsiveness aspects were comparable between the Jamar dynamometer and Vigorimeter. However, based on patients' preference, the Vigorimeter is recommended in future studies in immune-mediated neuropathies.
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http://dx.doi.org/10.1111/jns.12126DOI Listing
September 2015

Outcome measures in neuromuscular disease: is the world still flat?

J Peripher Nerv Syst 2015 Sep;20(3):255-9

Neuromuscular Reference Centre UCL St-Luc, University Hospitals St-Luc, Brussels, Belgium.

Valid, responsive, and meaningful outcome measures for the measurement of the impairment, activity limitations, and quality of life in patients with neuromuscular disease are crucial to identify the natural history of disease and benefits of therapy in clinical practice and trials. Although understanding of many aspects of neuromuscular diseases has advanced dramatically, the development of outcome measures has received less attention. The scales developed from Rasch theory by the PeriNomS Group represent the biggest significant shift in thought in neuromuscular outcome measures for decades. There remain problems with many of them, and further developments are required. However, incorporating them into our outcome sets for daily use and in clinical trials will lead to the more efficient capture of meaningful change and will result in better assessment of individuals and groups of patients in both clinical trials and neurological practice.
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http://dx.doi.org/10.1111/jns.12119DOI Listing
September 2015

Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison.

J Peripher Nerv Syst 2015 Sep;20(3):289-95

Department of Neurology, University Medical Centre Maastricht, Maastricht, The Netherlands.

This study aimed to 'define responder' through the concept of minimum clinically important differences using the individually obtained standard errors (MCID-SE) and a heuristic 'external criterion' responsiveness method in patients with Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). One hundred and fourteen newly diagnosed or relapsing patients (GBS: 55, CIDP: 59) were serially examined (1-year follow-up). The inflammatory Rasch-built overall disability scale (I-RODS), Rasch-transformed MRC sum score (RT-MRC), and Rasch-transformed modified-INCAT-sensory scale (RT-mISS) were assessed. Being-a-responder was defined as having a MCID-SE cut-off ≥1.96. Also, the correlations between patients' scores on each scale and the EuroQoL health-status 'thermometer' (external criterion) were determined (higher correlation indicated better responsiveness). In both diseases, the SEs showed a characteristic 'U'-shaped dynamic pattern across each scales' continuum. The number of patients showing a meaningful change were higher for the I-RODS > RT-MRC > RT-mISS and were in GBS higher than CIDP patients. The MCID-SE concept using Rasch-transformed data demonstrated an individual pattern of 'being-a-responder' in patients with immune-mediated neuropathies, and the findings were validated by the external criterion responsiveness method. The I-RODS showed greater responsiveness compared with the MRC and INCAT-sensory scales, and its use is therefore recommended in future trials in GBS and CIDP.
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http://dx.doi.org/10.1111/jns.12118DOI Listing
September 2015

Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses.

J Peripher Nerv Syst 2015 Sep;20(3):277-88

Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.

We performed a comparison between Neuropathy Impairment Scale-sensory (NISs) vs. the modified Inflammatory Neuropathy Cause and Treatment sensory scale (mISS), and NIS-motor vs. the Medical Research Council sum score in patients with Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and IgM monoclonal gammopathy of undetermined significance-related polyneuropathy (MGUSP). The ordinal data were subjected to Rasch analyses, creating Rasch-transformed (RT)-intervals for all measures. Comparison between measures was based on validity/reliability with an emphasis on responsiveness (using the patient's level of change related to the individually obtained varying SE for minimum clinically important difference). Eighty stable patients (GBS: 30, CIDP: 30, and MGUSP: 20) were assessed twice (entry: two observers; 2-4 weeks later: one observer), and 137 newly diagnosed or relapsing patients (GBS: 55, CIDP: 59, and IgM-MGUSP: 23) were serially examined with 12 months follow-up. Data modifications were needed to improve model fit for all measures. The sensory and motor scales demonstrated approximately equal and acceptable validity and reliability scores. Responsiveness scores were poor but slightly higher in RT-mISS compared to RT-NISs. Responsiveness was equal for the RT-motor scales, but higher in GBS compared to CIDP; responsiveness was poor in patients with MGUSP, suggesting a longer duration of follow-up in the latter group of patients.
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http://dx.doi.org/10.1111/jns.12127DOI Listing
September 2015

Changing outcome in inflammatory neuropathies: Rasch-comparative responsiveness.

Neurology 2014 Dec 5;83(23):2124-32. Epub 2014 Nov 5.

From the Department of Neurology (T.H.P.D., E.K.V., C.G.F., I.S.J.M.), University Medical Centre Maastricht; Department of Neurology (S.I.v.N., P.A.v.D.), Erasmus Medical Centre Rotterdam, the Netherlands; Department of Neurology (K.C.G.), St. Elizabeth's Medical Center, Tufts University School of Medicine, Boston, MA; Department of Neurology (W.L.V.d.P., N.C.N., L.H.v.d.B.), Rudolf Magnus Institute of Neuroscience University Medical Centre Utrecht, the Netherlands; Department of Neurological Sciences (E.N.-O.), Milan University, Humanitas Clinical Institute, Rozzano, Milan, Italy; Department of Neurology (J.M.L.), Hôpital de la Salpêtrière, Paris, France; Department of Neurology (P.Y.K.V.d.B.), Catholique University of Louvain, Belgium; Department of Clinical Neurosciences (G.L.), 3rd Neurology Unit, Milan, Italy; Department of Neurology (V.B., H.K.), Toronto General Hospital, Canada; Department of Neurology (M.P.T.L.), Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Department of Neurology (J.P.), Centre de Référence des Maladies Neuromusculaires et de la SLA, Hôpital de La Timone, Marseille, France; Department of Neurology (A.J.v.d.K.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Neurology (A.F.H.), London Health Science Center, London, Canada; Department of Neurology (D.R.C.), Johns Hopkins School of Medicine, Baltimore, MD; and Department of Neurology (I.S.J.M.), Spaarne Hospital, Hoofddorp, the Netherlands.

Objectives: We performed responsiveness comparison between the patient-reported Inflammatory Rasch-built Overall Disability Scale (I-RODS) and the widely used clinician-reported Inflammatory Neuropathy Cause and Treatment-Overall Neuropathy Limitation Scale (INCAT-ONLS) in patients with Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and immunoglobulin M-monoclonal gammopathy of undetermined significance related polyneuropathy (IgM-MGUSP).

Methods: One hundred thirty-seven patients (GBS: 55, CIDP: 59, IgM-MGUSP: 23) with a new diagnosis or clinical relapse assessed both scales. Patients with GBS/CIDP were examined at 0, 1, 3, 6, and 12 months; patients with IgM-MGUSP at 0, 3, and 12. We subjected all data to Rasch analyses, and calculated for each patient the magnitude of change on both scales using the minimal clinically important difference (MCID) related to the individual standard errors (SEs). A responder was defined as having an MCID-SE ≥1.96. Individual scores on both measures were correlated with the EuroQoL thermometer (heuristic responsiveness).

Results: The I-RODS showed a significantly higher proportion of meaningful improvement compared with the INCAT-ONLS findings in GBS/CIDP. For IgM-MGUSP, the lack of responsiveness during the 1-year study did not allow a clear separation. Heuristic responsiveness was consistently higher with the I-RODS.

Conclusion: The I-RODS more often captures clinically meaningful changes over time, with a greater magnitude of change, compared with the INCAT-ONLS disability scale in patients with GBS and CIDP. The I-RODS offers promise for being a more sensitive measure and its use is therefore suggested in future trials involving patients with GBS and CIDP.
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http://dx.doi.org/10.1212/WNL.0000000000001044DOI Listing
December 2014

Which criteria for research in chronic inflammatory demyelinating polyradiculoneuropathy? an analysis of current practice.

Muscle Nerve 2015 Jun 24;51(6):932-3. Epub 2015 Apr 24.

Centre de Référence Neuromusculaire, Université de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1002/mus.24496DOI Listing
June 2015

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Hum Mutat 2014 Jul 21;35(7):868-79. Epub 2014 May 21.

Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Western Australia, Australia; Diagnostic Genomics Laboratory, Pathwest, Queen Elizabeth II Medical Centre, Nedlands, Western Australia, Australia.

Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which different phenotypes are produced by mutations in MYH7, even in the same region of the gene, are not known. To explore the clinical spectrum and pathobiology, we screened the MYH7 gene in 88 patients from 21 previously unpublished families presenting with distal or generalized skeletal muscle weakness, with or without cardiac involvement. Twelve novel mutations have been identified in thirteen families. In one of these families, the father of the proband was found to be a mosaic for the MYH7 mutation. In eight cases, de novo mutation appeared to have occurred, which was proven in four. The presenting complaint was footdrop, sometimes leading to delayed walking or tripping, in members of 17 families (81%), with other presentations including cardiomyopathy in infancy, generalized floppiness, and scoliosis. Cardiac involvement as well as skeletal muscle weakness was identified in nine of 21 families. Spinal involvement such as scoliosis or rigidity was identified in 12 (57%). This report widens the clinical and pathological phenotypes, and the genetics of MYH7 mutations leading to skeletal muscle diseases.
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http://dx.doi.org/10.1002/humu.22553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112555PMC
July 2014

Chronic inflammatory demyelinating polyradiculoneuropathy.

Presse Med 2013 Jun 24;42(6 Pt 2):e203-15. Epub 2013 Apr 24.

Neuromuscular Reference Centre, Cliniques universitaires Saint-Luc, University of Louvain, Department of Neurology, 1200 Brussels, Belgium.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is the most common autoimmune neuropathy. The diagnosis depends on the clinical presentation with a progressive or relapsing course over at least 2 months and electrophysiological evidence of primary demyelination. Whereas typical CIDP is quite easily recognizable because virtually no other neuropathies present with both distal and proximal motor and sensory deficit, atypical CIDP, focal and multifocal variants in particular, may represent a difficult diagnostic challenge. CIDP very likely is an underdiagnosed condition as suggested also by a positive correlation between prevalence rates and sensitivity of electrophysiological criteria. Since no 'gold standard' diagnostic marker exists, electrophysiological criteria have been optimized to be at the same time as sensitive and as specific as possible. Additional supportive laboratory features, such as increased spinal fluid protein, MRI abnormalities of nerve segments, and in selected cases nerve biopsy lead to the correct diagnosis in the large majority of the cases. Objective clinical improvement following immune therapy is also a useful parameter to confirm the diagnosis. The pathogenesis and pathophysiology of CIDP remain poorly understood, but the available evidence for an inflammatory origin is quite convincing. Steroids, intravenous immunoglobulin (IVIG), and plasma exchange (PE) have been proven to be effective treatments. IVIG usually leads to rapid improvement, which is useful in severely disabled patients. Repeat treatment over regular time intervals for many years is often necessary. The effect of steroids is slower and the side-effect profile may be problematic, but they may induce disease remission more frequently than IVIG. An important and as of yet uncompletely resolved issue is the evaluation of long-term outcome to determine whether the disease is still active and responsive to treatment.
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http://dx.doi.org/10.1016/j.lpm.2013.01.056DOI Listing
June 2013

Validation of the ABILHAND questionnaire to measure manual ability in children and adults with neuromuscular disorders.

J Neurol Neurosurg Psychiatry 2010 May 2;81(5):506-12. Epub 2009 Sep 2.

Rehabilitation and Physical Medicine Unit, Université catholique de Louvain, Brussels 1200, Belgium.

Background: Neuromuscular disorders (NMDs) can lead to specific manual disabilities due to hand muscle weakness and atrophy, myotonia or loss of sensory function. The aim of this study was to adapt and validate the ABILHAND questionnaire in children and adults with NMDs using the Rasch model.

Methods: This questionnaire contained specific manual activities for children and for adults, as well as common manual activities. 124 adult patients and the parents of 124 paediatric patients were asked to provide their perceived difficulty in performing each manual activity on a three level scale: impossible (0), difficult (1) or easy (2). Items were selected from well established psychometric criteria (ordered categories, equal item discrimination, adequate fit to the Rasch model, lack of redundancy) using the Rasch Unidimensional Measurement Models (RUMM2020) computer programme.

Results: The 22 selected items contain four children specific items, four adult specific items and 14 items commonly applicable to both children and adults. They define a unidimensional and linear measure of manual ability and demonstrate continuous progression in their difficulty. The item hierarchy of difficulty was invariant across six patient related factors. The scale exhibited good precision (r=0.95) and the 22 items were well targeted to the patients' locations. The ABILHAND measures were strongly related to the ACTIVLIM measures (r=0.76) and poorly related to grip strength (r=0.36 for the right hand and r=0.40 for the left hand).

Conclusion: This scale can be used for adults and children, allowing manual ability to be assessed from childhood to adulthood.
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http://dx.doi.org/10.1136/jnnp.2009.177055DOI Listing
May 2010

Activity limitations in patients with neuromuscular disorders: a responsiveness study of the ACTIVLIM questionnaire.

Neuromuscul Disord 2009 Feb 23;19(2):99-103. Epub 2009 Jan 23.

Rehabilitation and Physical Medicine unit, Université catholique de Louvain, Unité de Réadaptation et de Médecine Physique (READ 5375), Tour Pasteur, 53, Av Mounier, 1200 Brussels, Belgium.

Recently, a self-reported scale of activity limitations, the ACTIVLIM questionnaire, was developed and validated in patients with neuromuscular disorders (NMD). The purpose of this study was to investigate its sensitivity to change. One hundred thirty-two patients with NMD (mean age, range: 31, 6-80) were assessed twice, with 21+/-4 months in between, using the ACTIVLIM questionnaire. Mean score change, effect size, standardized response, mean paired t-test and an individual-level statistical approach were calculated for groups of patients according to their self-rated functional status evolution and for three main diagnostic groups (Ambulant and wheelchair-bound Duchenne muscular dystrophy patients, myotonic dystrophy patients, and patients with Charcot-Marie-Tooth neuropathy). The responsiveness indices showed that the change in activity measures was higher in patients who reported deteriorated functional status and in patients with Duchenne muscular dystrophy. The ACTIVLIM questionnaire showed a good sensitivity to change and could be useful in research settings to characterize the disease course of NMD.
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http://dx.doi.org/10.1016/j.nmd.2008.11.004DOI Listing
February 2009

ACTIVLIM: a Rasch-built measure of activity limitations in children and adults with neuromuscular disorders.

Neuromuscul Disord 2007 Jun 11;17(6):459-69. Epub 2007 Apr 11.

Laboratory of Rehabilitation and Physical Medicine, Université catholique de Louvain, Unité de Réadapatation et de Médecine Physique (READ 5375), Tour Pasteur, 53, Av Mounier, Brussels 1200, Belgium.

A common measure of activity limitations for both children and adults with neuromuscular disorders was developed using the Rasch model. A self-reported questionnaire containing daily activities was submitted to 245 adult patients and to the parents of 124 affected children from the two major Belgian communities. They were asked to provide their perceived difficulty in performing daily activities on a three-level scale. The 22 items of the final scale define a unidimensional and linear measure of activity limitations and show a continuous progression in their difficulty. The item difficulty hierarchy is invariant with regard to the diagnosis, community, gender and age. The scale exhibits a good precision, since the 22 items are well targeted on our sample (r=0.96); furthermore, it is reproducible over time (ICC=0.93). The patients' measures are related to the Functional Independence Measure motor score (rho=0.85), to the Brooke (rho=-0.63) grade and to the Vignos (rho=-0.83) grade.
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http://dx.doi.org/10.1016/j.nmd.2007.02.013DOI Listing
June 2007

Nerve conduction studies in polyneuropathy: practical physiology and patterns of abnormality.

Acta Neurol Belg 2006 Jun;106(2):73-81

Department of Neurology, Neuromuscular Research Group, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands.

Nerve conduction studies are an essential part of the work-up of peripheral neuropathies. Many neuropathic syndromes can be suspected on clinical grounds, but optimal use of nerve conduction study techniques (in combination with needle electromyography) allows diagnostic classification and is therefore crucial to understanding and separation of neuropathies. Multifocal motor neuropathy, for example, may clinically present as ALS. Detection of evidence of demyelination (conduction blocks) leads to the correct diagnosis and to proper treatment. Nerve conduction studies provide essential information on (1) the spatial pattern of neuropathy, (2) the pattern of abnormalities distinguishing between primarily axonal and demyelinating pathology, and (3) the severity of neuropathic damage. This information is very comprehensive since many nerves and long segments of individual nerves can be sampled. Moreover the information is extremely detailed to the extent that the cellular pathology of a patient's neuropathy is usually defined best by physiological testing rather than by biopsy. Neuropathies can be generalized, focal, or multifocal; they can be symmetric or asymmetric; they can be distally predominant or proximal and distal. Primarily axonal neuropathies mainly affect sensory nerve and compound muscle action potential amplitudes, whereas demyelinating neuropathies lead to slowing of nerve conductions, and to increased temporal dispersion or conduction block. Usually, the pattern of demyelination allows to distinguish hereditary (uniform demyelination) from acquired (segmental demyelination) neuropathies. Electrodiagnostic criteria for primary demyelination are helpful to identify acquired demyelinating neuropathies.
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June 2006

Electrodiagnostic criteria for acute and chronic inflammatory demyelinating polyradiculoneuropathy.

Muscle Nerve 2004 Apr;29(4):565-74

Service de Neurologie, Cliniques Universitaires St-Luc, Université Catholique de Louvain, 10 Avenue Hippocrate, 1200 Brussels, Belgium.

Electrodiagnosis plays an important role in the early detection and characterization of inflammatory demyelinating polyradiculoneuropathies, because timely treatment reduces morbidity and disability. The challenge consists of defining electrodiagnostic criteria that are highly specific for primary demyelination but sufficiently sensitive to be useful in clinical practice. We compared 10 published sets of criteria in 53 patients with demyelinating Guillain-Barré syndrome (GBS) and 28 with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Specificity of criteria sets was tested in 40 patients with amyotrophic lateral sclerosis (ALS) and 32 with diabetic polyneuropathy (DPN). Sensitivity ranged from 24 to 83% (mean, 54.3%) in GBS and 39 to 89% (mean, 64.9%) in CIDP. With regard to ALS, specificity was 100% for nine sets but was 97% in one. In contrast, 3-66% of DPN patients fulfilled criteria in eight of ten sets. We propose a set of criteria with 72% and 75% sensitivity in our GBS and CIDP patient series, respectively, and 100% specificity with regard to ALS and DPN. Our data illustrate that most, but not all, patients can be electrodiagnostically ascertained.
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http://dx.doi.org/10.1002/mus.20022DOI Listing
April 2004

Tibial muscular dystrophy in a Belgian family.

Ann Neurol 2003 Aug;54(2):248-51

Centre de Référence Neuromusculaire, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium.

We report a Belgian family with autosomal dominant, late-onset, distal myopathy with selective foot extensor muscle involvement of the lower legs. Linkage to the tibial muscular dystrophy (TMD) locus 2q31 was not evident at first because of incomplete disease penetrance in a 50-year-old asymptomatic family member. An abnormal tibialis anterior muscle biopsy established her subclinical status and linkage of the family to the TMD locus. Mutation analysis showed a disease-specific, heterozygous point mutation in the last exon, Mex6, of the titin gene. This is the third mutation found in TMD and the second European family with TMD outside the Finnish population, suggesting that titinopathies may occur in various populations.
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http://dx.doi.org/10.1002/ana.10647DOI Listing
August 2003
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