MCID: MLT075
MIFTS: 54

Multifocal Motor Neuropathy malady

Rare diseases, Neuronal diseases categories

Summaries for Multifocal Motor Neuropathy

About this section


NIH Rare Diseases:43 Multifocal motor neuropathy is a progressive muscle disorder that primarily affects the upper limbs, however the lower limbs can also be affected. signs and symptoms include weakness in the hands and lower arms, and less often (and typically less severe) weakness in the lower limbs. people with this neuropathy may experience cramping, involuntary contractions or twitching, and wasting of affected muscles. it is typical for there to be differences from one side of the body to the other in the specific muscles involved. multifocal motor neuropathy is caused by abnormal activity of the body's immune system. while there is currently no cure for multifocal motor neuropathy, symptoms tend to be greatly improved with regular/periodic immunoglobulin therapy. last updated: 5/1/2013

MalaCards based summary: Multifocal Motor Neuropathy, also known as multifocal motor neuropathy with conduction block, is related to demyelinating polyneuropathy and thyroiditis. An important gene associated with Multifocal Motor Neuropathy is CD1E (CD1e molecule), and among its related pathways are CD40/CD40L signaling and Hematopoietic cell lineage. The compounds monomethyl fumarate and tdac have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, thyroid and b cells, and related mouse phenotypes are renal/urinary system and liver/biliary system.

NINDS:44 Multifocal motor neuropathy is a progressive muscle disorder characterized by muscle weakness in the hands, with differences from one side of the body to the other in the specific muscles involved. It affects men much more than women. Symptoms also include muscle wasting, cramping, and involuntary contractions or twitching of the leg muscles. The disorder is sometimes mistaken for amyotrophic laterial sclerosis (ALS, or Lou Gehrig's disease) but unlike ALS, it is treatable. An early and accurate diagnosis allows patients to recover quickly.

Wikipedia:65 Multifocal motor neuropathy (MMN) is a progressively worsening condition where muscles in the... more...

Aliases & Classifications for Multifocal Motor Neuropathy

About this section
Sources:
32LifeMap Discovery®, 43NIH Rare Diseases, 44NINDS, 49Orphanet, 62UMLS, 28ICD10 via Orphanet
See all sources

Multifocal Motor Neuropathy, Aliases & Descriptions:

Name: Multifocal Motor Neuropathy 32 43 44 49 62
Multifocal Motor Neuropathy with Conduction Block 49
 
Mmncb 49
Mmn 49


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
multifocal motor neuropathy:
Prevalence: 1-9/100000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy


External Ids:

Orphanet49 641
ICD10 via Orphanet28 G61.8

Related Diseases for Multifocal Motor Neuropathy

About this section

Diseases related to Multifocal Motor Neuropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1demyelinating polyneuropathy30.7CNTN2, CD1E
2thyroiditis30.7PTPN22
3arthritis30.2PTPN22, FCGR2B, IFNG, IL4, IL10
4rheumatoid arthritis30.1PTPN22, FCGR2B, IFNG, IL4, IL2, IL10
5neuropathy11.4
6multifocal motor neuropathy with conduction block10.9
7lateral sclerosis10.6
8lewis-sumner syndrome10.5
9neuronitis10.5
10polyneuropathy10.5
11blindness10.5
12motor neuron disease10.4
13chronic inflammatory demyelinating polyradiculoneuropathy10.4
14polyradiculoneuropathy10.4
15muscle hypertrophy10.3
16chronic inflammatory demyelinating polyneuropathy10.3
17respiratory failure10.3
18b-cell lymphomas10.2
19crohn's disease10.2
20progressive muscular atrophy10.2
21axonal neuropathy10.2
22muscular atrophy10.2
23restless legs syndrome10.2
24adenocarcinoma10.2
25amyloidosis10.2
26cervicitis10.2
27mononeuropathy10.2
28ophthalmoplegia10.2
29spondylitis10.2
30susac syndrome10.2
31secondary amyloidosis10.2
32acute motor axonal neuropathy10.2
33hemorrhagic fever10.1CD40LG
34periapical granuloma10.0IL4
35lupus erythematosus10.0FCGR2B, CD40LG
36aspergillosis10.0IFNG
37intraocular lymphoma10.0IL10
38leprosy10.0IL2
39systemic lupus erythematosus10.0BANK1, BLK
40bipolar disorder10.0
41multiple mucosal neuroma10.0
42dyslexia10.0
43focal epilepsy10.0
44neuroma10.0
45reading disorder10.0
46multiple endocrine neoplasia10.0
47immunodeficiency, x-linked, with hyper-igm10.0CD40LG, IL4
48hyper-ige recurrent infection syndrome10.0IL4, IFNG
49cutaneous leishmaniasis10.0IFNG, IL10
50tuberculoid leprosy10.0IFNG, IL10

Graphical network of the top 20 diseases related to Multifocal Motor Neuropathy:



Diseases related to multifocal motor neuropathy

Symptoms for Multifocal Motor Neuropathy

About this section

Drugs & Therapeutics for Multifocal Motor Neuropathy

About this section

Drug clinical trials:

Search ClinicalTrials for Multifocal Motor Neuropathy

Search NIH Clinical Center for Multifocal Motor Neuropathy

Genetic Tests for Multifocal Motor Neuropathy

About this section

Anatomical Context for Multifocal Motor Neuropathy

About this section

MalaCards organs/tissues related to Multifocal Motor Neuropathy:

33
Skeletal muscle, Thyroid, B cells, Lung, Testes, T cells

Animal Models for Multifocal Motor Neuropathy or affiliated genes

About this section

Publications for Multifocal Motor Neuropathy

About this section

Articles related to Multifocal Motor Neuropathy:

(show top 50)    (show all 259)
idTitleAuthorsYear
1
Nerve ultrasound for differentiation between amyotrophic lateral sclerosis and multifocal motor neuropathy. (25626722)
2015
2
Autoantibodies to neurofascin-186 and gliomedin in multifocal motor neuropathy. (25283719)
2014
3
Multifocal motor neuropathy: a review of pathogenesis, diagnosis, and treatment. (24741315)
2014
4
Increased proinflammatory cytokines in sera of patients with multifocal motor neuropathy. (25130929)
2014
5
Multifocal motor neuropathy: correlation of nerve ultrasound, electrophysiological, and clinical findings. (24862982)
2014
6
Immune pathogenesis and treatment of multifocal motor neuropathy. (22941513)
2013
7
Multifocal motor neuropathy: current therapies and novel strategies. (23516024)
2013
8
A controlled trial of intravenous immunoglobulin in multifocal motor neuropathy. (24725024)
2013
9
Antibodies to Glycoproteins Shared by Human Peripheral Nerve and Campylobacter jejuni in Patients with Multifocal Motor Neuropathy. (23762534)
2013
10
Brachial plexus cyst in a patient with multifocal motor neuropathy. (23857608)
2013
11
A case of multifocal motor neuropathy with conduction block associated with gastric and lung adenocarcinoma. (22734912)
2012
12
Motor nerve conduction study in cauda equina with high-voltage electrical stimulation in multifocal motor neuropathy and amyotrophic lateral sclerosis. (21254095)
2011
13
Multifocal motor neuropathy. (22019654)
2011
14
Activity-dependent conduction block in multifocal motor neuropathy. (21171095)
2011
15
Intravenous immunoglobulin treatment in multifocal motor neuropathy. (20405181)
2010
16
Nerve excitability changes after intravenous immunoglobulin infusions in multifocal motor neuropathy and chronic inflammatory demyelinating neuropathy. (20219211)
2010
17
Beneficial effect of rituximab monotherapy in multifocal motor neuropathy. (19467601)
2009
18
Subcutaneous versus intravenous immunoglobulin in multifocal motor neuropathy: a randomized, single-blinded cross-over trial. (19236457)
2009
19
Treatment of multifocal motor neuropathy with immunoglobulin: does route of administration matter? (19405192)
2009
20
Subcutaneous immunoglobulin therapy for multifocal motor neuropathy. (19691531)
2009
21
New liquid intravenous immunoglobulin (10 % IVIg) for treatment of multifocal motor neuropathy: a prospective study of efficacy, safety and tolerability. (18758888)
2008
22
No benefit of treatment with cyclophosphamide and autologous blood stem cell transplantation in multifocal motor neuropathy. (18081911)
2008
23
Efficacy of intravenous immunoglobulin in multifocal motor neuropathy. (17911439)
2007
24
Multifocal motor neuropathy with conduction block: slow but not benign. (17172619)
2006
25
Multifocal motor neuropathy with and without conduction block: a single entity? (16924010)
2006
26
High-dose cyclophosphamide without stem cell rescue for refractory multifocal motor neuropathy. (16502421)
2006
27
Immunosuppressant and immunomodulatory treatments for multifocal motor neuropathy. (16034892)
2005
28
Ultrasonography shows extensive nerve enlargements in multifocal motor neuropathy. (16043806)
2005
29
Multifocal motor neuropathy: current concepts and controversies. (15770650)
2005
30
Multifocal motor neuropathy, type 1 diabetes and asymptomatic Hashimoto's thyroiditis: an unusual association. (15833429)
2005
31
Physiology of conduction block in multifocal motor neuropathy and other demyelinating neuropathies. (12635114)
2003
32
Progressive arm weakness and tonic hand spasm from multifocal motor neuropathy in the brachial plexus. (12872332)
2003
33
Multifocal motor neuropathy caused by a B-cell lymphoma producing a monoclonal IgM autoantibody against peripheral nerve myelin glycolipids GM1 and GD1b. (14616962)
2003
34
Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association. (12117481)
2002
35
79(th) ENMC International Workshop: multifocal motor neuropathy. 14-15 April 2000, Hilversum, The Netherlands. (11297948)
2001
36
Treatment of multifocal motor neuropathy with interferon-beta1A. (10751269)
2000
37
Multifocal motor neuropathy and Lewis Sumner syndrome: two distinct entities. (10567092)
1999
38
Cerebrospinal fluid filtration and immunoglobulins in multifocal motor neuropathy. (9988136)
1999
39
Multifocal motor neuropathy mimicking motor neuron disease: nine cases. (10540011)
1999
40
Are multifocal motor neuropathy and Lewis-Sumner syndrome distinct nosologic entities? (10331352)
1999
41
Electrophysiologic findings in multifocal motor neuropathy. (9633785)
1998
42
Multifocal motor neuropathy. (9562669)
1998
43
Long term effect of intravenous immunoglobulins and oral cyclophosphamide in multifocal motor neuropathy. (9416813)
1997
44
AAEM case report #30: multifocal motor neuropathy. (8606689)
1996
45
T cell-dependent activity of ganglioside GM1-specific B cells in Guillain-BarrAc syndrome and multifocal motor neuropathy in vitro. (8294565)
1994
46
Multifocal motor neuropathy: electrodiagnostic features. (8114790)
1994
47
Treatment of multifocal motor neuropathy with a high dosage of intravenous immunoglobulin. (8429850)
1993
48
Intravenous immunoglobulin treatment in multifocal motor neuropathy. (1352598)
1992
49
Separating motor neuron diseases from pure motor neuropathies. Multifocal motor neuropathy with persistent conduction block. (1853773)
1991
50
A treatable multifocal motor neuropathy with antibodies to GM1 ganglioside. (2843079)
1988

Variations for Multifocal Motor Neuropathy

About this section

Expression for genes affiliated with Multifocal Motor Neuropathy

About this section
LifeMap Discovery
Genes differentially expressed in tissues of Multifocal Motor Neuropathy patients vs. healthy controls: 32 (show all 10)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1STRADBSTE20-related kinase adaptor betaBlood+1.690.011
2NFKBIZnuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zetaBlood+1.670.008
3TBL1XR1transducin (beta)-like 1 X-linked receptor 1Blood+1.670.011
4EGR1early growth response 1Blood+1.670.017
5FCRL5Fc receptor-like 5Blood+1.650.038
6BANK1B-cell scaffold protein with ankyrin repeats 1Blood+1.620.015
7OSBPL10oxysterol binding protein-like 10Blood+1.600.024
8UBN1ubinuclein 1Blood+1.580.019
9STRBPspermatid perinuclear RNA binding proteinBlood+1.580.006
10EIF4A1eukaryotic translation initiation factor 4A1Blood+1.570.001


Search GEO for disease gene expression data for Multifocal Motor Neuropathy.

Pathways for genes affiliated with Multifocal Motor Neuropathy

About this section

Pathways related to Multifocal Motor Neuropathy according to GeneCards/GeneDecks:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6IL4, CD40LG
29.4CD1E, CD1A, IL4
39.4BLK, FCGR2B, BANK1
49.3IL10, IFNG
59.1IL2, IFNG
69.1IL2, IFNG
79.0IL10, IFNG, FCGR2B
89.0CD40LG, IL10, IL4
99.0CD40LG, IL10, IFNG
10
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
8.8BLK, IL4, IL2
118.6IFNG, IL4, IL2
128.6IFNG, IL4, IL2
13
Show member pathways
Immune response CD16 signaling in NK cells60
8.6IFNG, IL4, IL2
14
Show member pathways
Immune response IL 12 induced IFN gamma production60
8.6IL2, IL4, IFNG
15
Show member pathways
IL23-mediated signaling events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
8.5IL10, IL2, IFNG
16
Show member pathways
8.5IL10, IL2, IFNG
17
Show member pathways
IL27-mediated signaling events38
8.5IFNG, IL2, IL10
18
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
8.5IL10, IL2, IFNG
19
Show member pathways
8.3FCGR2B, IFNG, IL4, IL2
20
Show member pathways
Calcium signaling in the CD4+ TCR pathway38
8.3CD40LG, IL2, IL4, IFNG
218.3IFNG, IL4, IL2, CD40LG
22
Show member pathways
8.2IL10, IL2, IL4, PTPN22
23
Show member pathways
Type III interferon signaling38
8.0IFNG, IL4, IL2, IL10
24
Show member pathways
8.0IFNG, IL4, IL2, IL10
258.0IL10, IL2, IL4, IFNG
268.0IL10, IL2, IL4, IFNG
278.0IFNG, IL4, IL2, IL10
28
Show member pathways
8.0BLK, FCGR2B, IFNG, IL4, IL2
297.8BLK, PTPN22, IL4, IL2, IL10
30
Show member pathways
7.6IFNG, IL4, IL2, IL10, CD40LG
31
Show member pathways
7.6IFNG, IL4, IL2, IL10, CD40LG
32
Show member pathways
7.6IFNG, IL4, IL2, IL10, CD40LG
33
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
7.4CD40LG, IL10, IL2, IL4, IFNG, FCGR2B

Compounds for genes affiliated with Multifocal Motor Neuropathy

About this section

Compounds related to Multifocal Motor Neuropathy according to GeneCards/GeneDecks:

(show top 50)    (show all 91)
idCompoundScoreTop Affiliating Genes
1monomethyl fumarate459.6IL4, IL10
2tdac459.4IL4, IL2
3natalizumab45 1310.4IL10, IFNG, FCGR2B
4daclizumab45 1310.4FCGR2B, IL2, CD40LG
5alemtuzumab45 1310.4CD40LG, IL2, FCGR2B
6adalimumab45 51 1311.4IL10, IFNG, FCGR2B
7tuberculin459.4CD40LG, IL10, IFNG
8praziquantel45 1310.4IL4, IL10, CD40LG
9betaseron459.2IFNG, IL4, IL10
10etanercept45 51 1311.2FCGR2B, IFNG, IL10
11polymyxin b459.1IL10, IL4, IFNG
12rolipram45 61 3011.0IL10, IL4, IFNG
13tarc459.0IFNG, IL4, IL10
14infliximab45 51 1310.9IFNG, IL4, IL10
15allergens458.9CD40LG, IL10, IL4, IFNG
16rituximab45 51 1310.8FCGR2B, IL2, IL10, CD40LG
172,5-oligoadenylate458.7IL10, IL2, IFNG
18ivig458.6FCGR2B, IFNG, IL4, IL10, CD40LG
19herbimycin a45 619.6IFNG, IL4, IL2, CD40LG
20mycophenolate mofetil45 51 1310.6IFNG, IL2, IL10, CD40LG
21thalidomide45 51 61 1311.5CD40LG, IL10, IL2, IFNG
22biotin45 26 1310.5IL4, IL2, IL10, CD40LG
2315-deoxy-delta-12,14-prostaglandin j2458.5IL10, IL4, IFNG
24ifn-alpha458.5IL10, IL2, IFNG
25interferon gamma458.4IFNG, IL4, IL2, IL10
26alpha-galactosylceramide458.4IL10, IL2, IL4, IFNG
27glatiramer acetate45 139.4IFNG, IL4, IL2, IL10
28gm-csf45 309.4IFNG, IL4, IL2, IL10
29con a458.4IFNG, IL4, IL2, IL10
30polyinosinic-polycytidylic acid458.4IL10, IL2, IL4, IFNG
31il 10458.4IFNG, IL4, IL2, IL10
32pentoxifylline45 139.4IFNG, IL4, IL2, IL10
33indomethacin45 30 61 1311.3IFNG, IL4, IL2, CD40LG
34hydrocortisone45 3 61 1311.3IFNG, IL4, IL2, IL10
35tacrolimus45 51 1310.3IL10, IL2, IL4, IFNG
36calcitriol45 61 26 1311.2IFNG, IL4, IL2, IL10
37rapamycin458.2CD40LG, IL10, IL2, IFNG
38il-12458.1CD40LG, IL10, IL2, IL4, IFNG
39okt3458.1IFNG, IL4, IL2, IL10, CD40LG
40ribavirin45 51 1310.1CD40LG, IL10, IL2, IL4, IFNG
41neopterin458.1IFNG, IL4, IL2, IL10, CD40LG
42rantes458.0IFNG, IL4, IL2, IL10, CD40LG
43pge2458.0IFNG, IL4, IL2, IL10, CD40LG
44cycloheximide457.9IFNG, IL4, IL2, IL10, CNTN2
45thymidine45 268.8FCGR2B, IFNG, IL4, IL2, IL10, CNTN2
46histamine45 30 269.8FCGR2B, IFNG, IL4, IL2, IL10, CD40LG
47ionomycin457.8IFNG, IL4, IL2, IL10, CNTN2, CD40LG
48cyclosporin a45 30 619.8IFNG, IL4, IL2, IL10, CNTN2, CD40LG
49vegf457.7IFNG, IL4, IL2, IL10, CNTN2, CD40LG
50dexamethasone45 51 30 1310.5IFNG, IL4, IL2, IL10, CD40LG

GO Terms for genes affiliated with Multifocal Motor Neuropathy

About this section

Cellular components related to Multifocal Motor Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.1CD40LG, IL4, IFNG
2extracellular spaceGO:00056157.3CD40LG, IL10, IL2, IL4, IFNG

Biological processes related to Multifocal Motor Neuropathy according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation, exogenous lipid antigen via MHC class IbGO:004800710.2CD1E, CD1A
2positive regulation of chemokine biosynthetic processGO:00450809.7IL4, IFNG
3regulation of isotype switchingGO:00451919.6IL4, IL10
4type 2 immune responseGO:00420929.6IL10, IL4
5positive regulation of interleukin-12 productionGO:00327359.6CD40LG, IFNG
6defense response to protozoanGO:00428329.6IFNG, IL4
7regulation of immune responseGO:00507769.6FCGR2B, IL4, CD40LG
8negative regulation of nitric oxide biosynthetic processGO:00450199.6IL10, IL4
9negative regulation of growth of symbiont in hostGO:00441309.5IL10, IFNG
10B cell differentiationGO:00301839.3IL4, IL10, CD40LG
11positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.2IL4, IL2
12T cell differentiationGO:00302179.2PTPN22, IL2
13B cell proliferationGO:00421009.2CD40LG, IL10
14positive regulation of activated T cell proliferationGO:00421049.2IL2, IL4
15positive regulation of MHC class II biosynthetic processGO:00453489.1IL10, IL4, IFNG
16positive regulation of isotype switching to IgG isotypesGO:00483048.9IL2, IL4, IFNG
17immune responseGO:00069558.6FCGR2B, IL4, IL2, CD1A, CD1E
18negative regulation of apoptotic processGO:00430668.4IL4, IL2, IL10, CD40LG
19positive regulation of transcription from RNA polymerase II promoterGO:00459448.0IL10, IL2, IL4, IFNG

Molecular functions related to Multifocal Motor Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1exogenous lipid antigen bindingGO:003088410.0CD1A, CD1E
2endogenous lipid antigen bindingGO:003088310.0CD1A, CD1E
3lipopeptide bindingGO:00717239.9CD1E, CD1A
4beta-2-microglobulin bindingGO:00308819.7CD1E, CD1A
5growth factor activityGO:00080838.5IL10, IL2, IL4
6cytokine activityGO:00051257.8CD40LG, IL10, IL2, IL4, IFNG

Products for genes affiliated with Multifocal Motor Neuropathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Multifocal Motor Neuropathy

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet