Browse
Submit Data
Databases
API
Help

Dataset Information

23 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Multifocal Motor Neuropathy Presenting as Pseudodystonia.

ABSTRACT: Multifocal motor neuropathy (MMN) is an immune-mediated neuropathy. Wasting and weakness typically dominate the clinical presentation. We describe four cases presenting with prominent cramping resembling a primary movement disorder. All cases had features of focal motor conduction block on neurophysiological studies. The involuntary movements resolved in all four patients following treatment with intravenous immunoglobulin. The presented cases highlight an unusual presentation of MMN and emphasize that peripheral nerve pathology can present with movement disorders mimicking central nervous system disease. Furthermore, the movement disorder appears particularly sensitive to standard therapy.

SUBMITTER: Garg N

PROVIDER: S-EPMC6353406 | biostudies-literature | 2017 Jan-Feb

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Multifocal Motor Neuropathy Presenting as Pseudodystonia.

Garg Nidhi N Heard Robert N S RNS Kiers Lynette L Gerraty Richard R Yiannikas Con C

Movement disorders clinical practice 20160311 1

Multifocal motor neuropathy (MMN) is an immune-mediated neuropathy. Wasting and weakness typically dominate the clinical presentation. We describe four cases presenting with prominent cramping resembling a primary movement disorder. All cases had features of focal motor conduction block on neurophysiological studies. The involuntary movements resolved in all four patients following treatment with intravenous immunoglobulin. The presented cases highlight an unusual presentation of MMN and emphasi ...[more]

PMID: 30713953

Similar Datasets

Immunoglobulin for multifocal motor neuropathy.

Project description: Not available

| S-EPMC8751207 | biostudies-literature

Multifocal motor neuropathy, multifocal acquired demyelinating sensory and motor neuropathy, and other chronic acquired demyelinating polyneuropathy variants.

Project description:Chronic acquired demyelinating neuropathies (CADP) constitute an important group of immune neuromuscular disorders affecting myelin. This article discusses CADP with emphasis on multifocal motor neuropathy, multifocal acquired demyelinating sensory and motor neuropathy, distal acquired demyelinating symmetric neuropathy, and less common variants. Although each of these entities has distinctive laboratory and electrodiagnostic features that aid in their diagnosis, clinical characteristics are of paramount importance in diagnosing specific conditions and determining the most appropriate therapies. Knowledge regarding pathogenesis, diagnosis, and management of these disorders continues to expand, resulting in improved opportunities for identification and treatment.

| S-EPMC4098937 | biostudies-literature

Multifocal demyelinating motor neuropathy associated with a de novo PTEN mutation

Project description:Phosphatase and tensin homolog (PTEN) is a tumour suppressor gene associated with inherited tumour susceptibility conditions, macrocephaly, autism, ataxia, tremor and epilepsy. Functional implications of this protein have been investigated in Parkinson’s and Alzheimer’s diseases. We describe the first patient presented with multifocal demyelinating motor neuropathy in association with a de novo PTEN mutation. The pathogenicity of the mutation was supported by altered expression of several proteins involved in tumorigenesis and fibroblasts showed a reversible defect in catalytic activity of PTEN against the secondary substrate, phosphatidylinositol 3,4,-trisphosphate, suggesting a novel and potentially treatable mechanism for multi-focal demyelinating motor neuropathy.

2018-10-22 | PXD008014 | Pride

Antibodies to heteromeric glycolipid complexes in multifocal motor neuropathy.

Project description:BackgroundMeasurement of anti-GM1 IgM antibodies in multifocal motor neuropathy (MMN) sera is confounded by relatively low sensitivity that limits clinical usefulness. Combinatorial assay methods, in which antibodies react to heteromeric complexes of two or more glycolipids, are being increasingly applied to this area of diagnostic testing.MethodsA newly developed combinatorial glycoarray able to identify antibodies to 45 different heteromeric glycolipid complexes and their 10 individual glycolipid components was applied to a randomly selected population of 33 MMN cases and 57 normal or disease controls. Comparison with an enzyme-linked immunosorbent assay (ELISA) was conducted for selected single glycolipids and their complexes.ResultsBy ELISA, 22/33 MMN cases had detectable anti-GM1 IgM antibodies, whereas 19/33 MMN samples were positive for anti-GM1 antibodies by glycoarray. Analysis of variance (anova) revealed that of the 55 possible single glycolipids and their 1:1 complexes, antibodies to the GM1:galactocerebroside (GM1:GalC) complex were most significantly associated with MMN, returning 33/33 MMN samples as positive by glycoarray and 29/33 positive by ELISA. Regression analysis revealed a high correlation in absolute values between ELISA and glycoarray. Receiver operator characteristic analysis revealed insignificantly different diagnostic performance between the two methods. However, the glycoarray appeared to offer slightly improved sensitivity by identifying antibodies in four ELISA-negative samples.ConclusionsThe use of combinatorial glycoarray or ELISA increased the diagnostic sensitivity of anti-glycolipid antibody testing in this cohort of MMN cases, without significantly affecting specificity, and may be a useful assay modification for routine clinical screening.

| S-EPMC3896049 | biostudies-literature

Motor unit integrity in multifocal motor neuropathy: A systematic evaluation with CMAP scans.

Project description:Introduction/aimsProgressive axonal loss in multifocal motor neuropathy (MMN) is often assessed with nerve conduction studies (NCS), by recording maximum compound muscle action potentials (CMAPs). However, reinnervation maintains the CMAP amplitude until a significant portion of the motor unit (MU) pool is lost. Therefore, we performed more informative CMAP scans to study MU characteristics in a large cohort of patients with MMN.MethodsWe derived the maximum CMAP amplitude (CMAPmax ), an MU number estimate (MUNE), and the largest MU amplitude stimulus current required to elicit 5%, 50%, and 95% of CMAPmax (S5, S50, S95) and relative ranges ([S95 - S5] × 100 / S50) from the scans. These metrics were compared with clinical, laboratory, and NCS results.ResultsForty MMN patients and 24 healthy controls were included in the study. CMAPmax and MUNE were reduced in MMN patients (both P < .001). Largest MU amplitude as a percentage of CMAPmax was increased in MMN patients (P < .001). Disease duration and treatment duration were not associated with MUNE. Relative range was larger in patients with anti-GM1 antibodies than in those without anti-GM1 antibodies (P = .016) and controls (P < .001). The largest MU amplitudes were larger in patients without anti-GM1 antibodies than in patients with anti-GM1 antibodies (P = .037) and controls (P = .044).DiscussionWe found that MU loss is common in MMN and accompanied by enlarged MUs. Presence of anti-GM1 antibodies was associated with increased relative range of MU thresholds and reduction in largest MU amplitude. Our findings indicate that CMAP scans complement routine NCS, and may have potential for practical monitoring of treatment efficacy and disease progression.

| S-EPMC9300115 | biostudies-literature

Office immunotherapy in chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy.

Project description:Intravenous immunoglobulin [IVIg], plasma exchange [PE], and corticosteroids are efficacious treatment in chronic inflammatory demyelinating polyneuropathy [CIDP]. IVIg is effective in multifocal motor neuropathy [MMN]. NIS, NIS-weakness, sum scores of raw amplitudes of motor fiber (CMAPs) amplitudes, and Dyck/Rankin score provided reliable measures to detect and scale abnormality and reflect change; they are therefore ideal for office management of response-based immunotherapy (R-IRx) of CIDP. Using efficacious R-IRx, a large early and late therapeutic response (? one-fourth were in remission or had recovered) was demonstrated in CIDP. In MMN only an early improvement with late non-significant worsening was observed. The difference in immunotherapy response supports a fundamental difference between CIDP (immune attack on Schwann cells and myelin) and MMN (attack on nodes of Ranvier and axons).

| S-EPMC4621010 | biostudies-literature

Complement activity is associated with disease severity in multifocal motor neuropathy.

Project description:OBJECTIVE: To investigate whether high innate activity of the classical and lectin pathways of complement is associated with multifocal motor neuropathy (MMN) and whether levels of innate complement activity or the potential of anti-GM1 antibodies to activate the complement system correlate with disease severity. METHODS: We performed a case-control study including 79 patients with MMN and 79 matched healthy controls. Muscle weakness was documented with Medical Research Council scale sum score and axonal loss with nerve conduction studies. Activity of the classical and lectin pathways of complement was assessed by ELISA. We also determined serum mannose-binding lectin (MBL) concentrations and polymorphisms in the MBL gene (MBL2) and quantified complement-activating properties of anti-GM1 IgM antibodies by ELISA. RESULTS: Activity of the classical and lectin pathways, MBL2 genotypes, and serum MBL concentrations did not differ between patients and controls. Complement activation by anti-GM1 IgM antibodies was exclusively mediated through the classical pathway and correlated with antibody titers (p < 0.001). Logistic regression analysis showed that both high innate activity of the classical pathway of complement and high complement-activating capacity of anti-GM1 IgM antibodies were significantly associated with more severe muscle weakness and axonal loss. CONCLUSION: High innate activity of the classical pathway of complement and efficient complement-activating properties of anti-GM1 IgM antibodies are determinants of disease severity in patients with MMN. These findings underline the importance of anti-GM1 antibody-mediated complement activation in the pathogenesis and clinical course of MMN.

| S-EPMC4484896 | biostudies-literature

Conduction Block and Nerve Cross-Sectional Area in Multifocal Motor Neuropathy.

Project description:Introduction: Motor nerve conduction block (CB) is the main electrophysiological feature of multifocal motor neuropathy (MMN). Increased cross-sectional area (CSA) can be detected by nerve ultrasound in MMN. In this study, we aim to analyze the correlation between CB and CSA in MMN. Methods: Twelve patients with MMN were recruited. Ultrasonography tests and motor nerve conduction studies (NCSs) were performed on median and ulnar nerves simultaneously. CSA was measured at 10 consecutive sites on those nerves, meanwhile nerves were traced continuously and recorded thoroughly under ultrasound. Results: In motor NCSs, 12 definite CB and 12 probable CB areas were detected across standard segments of median and ulnar nerves. With ultrasound studies, increased CSA was detected at 36 sites. There were 9 standard segments with CB and increased CSA, 15 segments with CB but normal CSA, and 27 segments with increased CSA but no CB. Discussion: In MMN, motor nerve CB was not always consistent with increased CSA.

| S-EPMC6794440 | biostudies-literature

Human immune globulin 10% with recombinant human hyaluronidase in multifocal motor neuropathy.

Project description:ObjectiveThe primary aim was to determine the safety of treatment with human immune globulin 10% with recombinant human hyaluronidase (fSCIg) compared to intravenous immunoglobulin (IVIg) in a prospective open-label study in patients with multifocal motor neuropathy (MMN).MethodsOur study consisted of two phases: the IVIg phase (visits 1-3; 12 weeks), in which patients remained on IVIg treatment, and the fSCIg phase (visits 4-7; 36 weeks), in which patients received fSCIg treatment. After visit 3, IVIg was switched to an equivalent dose and frequency of fSCIg. Outcome measures were safety, muscle strength, disability and treatment satisfaction.ResultsEighteen patients were enrolled in this study. Switching to fSCIg reduced the number of systemic adverse events (IVIg 11.6 vs. fSCIg 5.0 adverse events/per person-year, p < 0.02), and increased the number of local reactions at the injection site (IVIg 0 vs. fSCIg 3.3 local reactions/per person-year, p < 0.01). Overall, no significant differences in muscle strength and disability between fSCIg and IVIg were found. Treatment with fSCIg was perceived as optimal treatment option by 8 of the 17 patients (47.1%) and they continued with fSCIg after study closure because of improved independence and flexibility to administer treatment.ConclusionTreatment with fSCIg can be considered a safe alternative for patients with MMN on IVIg treatment. fSCIg could be a favorable option in patients who prefer self-treatment and more independency, and in patients who experience systemic adverse events on IVIg or have difficult intravenous access.

| S-EPMC6803588 | biostudies-literature

Pattern of muscle strength improvement after intravenous immunoglobulin therapy in multifocal motor neuropathy.

Project description:IntroductionIn multifocal motor neuropathy (MMN), knowledge about the pattern of treatment response in a wide spectrum of muscle groups, distal as well as proximal, after intravenous immunoglobulin (IVIg) initiation is lacking.MethodsHand-held dynamometry data of 11 upper and lower limb muscles, from 47 patients with MMN was reviewed. Linear mixed models were used to determine the treatment response after IVIg initiation and its relationship with initial muscle weakness.ResultsAll muscle groups showed a positive treatment response after IVIg initiation. Changes in SD scores ranged from +0.1 to +0.95. A strong association between weakness at baseline and the magnitude of the treatment response was found.DiscussionImproved muscle strength in response to IVIg appears not only in distal, but to a similar degree also in proximal muscle groups in MMN, with the largest response in muscle groups that show the greatest initial weakness.

| S-EPMC8247955 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data