HSMN
MCID: MTR007
MIFTS: 37

Motor Peripheral Neuropathy (HSMN) malady

Categories: Neuronal diseases, Muscle diseases

Aliases & Classifications for Motor Peripheral Neuropathy

Aliases & Descriptions for Motor Peripheral Neuropathy:

Name: Motor Peripheral Neuropathy 12 14
Peripheral Motor Neuropathy 12 69
Motor Neuritis 12 14
Hsmn - Hereditary Sensory and Motor Neuropathy 12
Hereditary Motor and Sensory Neuropathies 69
Hereditary Motor and Sensory Neuropathy 12
Hereditary Sensory and Motor Neuropathy 42
Neuropathic Muscular Atrophy 12
Hsmn 12

Classifications:



Summaries for Motor Peripheral Neuropathy

MalaCards based summary : Motor Peripheral Neuropathy, also known as peripheral motor neuropathy, is related to hereditary motor and sensory neuropathy via and charcot-marie-tooth disease, type 2a1, and has symptoms including neurologic symptoms An important gene associated with Motor Peripheral Neuropathy is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Bupivacaine and Lidocaine have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and cellular

Related Diseases for Motor Peripheral Neuropathy

Diseases related to Motor Peripheral Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
id Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy via 34.1 MFN2 PMP22
2 charcot-marie-tooth disease, type 2a1 33.1 KIF1B MFN2
3 charcot-marie-tooth disease, type 1e 32.6 GJB1 KIF1B MPZ PMP22
4 dejerine-sottas disease 32.1 GDAP1 GJB1 KIF1B MFN2 MPZ PMP22
5 neuropathy, congenital hypomyelinating 31.8 GDAP1 GJB1 KIF1B MPZ MTMR2 PMP22
6 hereditary motor and sensory neuropathy v 12.5
7 hereditary motor and sensory neuropathy, okinawa type 12.4
8 hereditary motor and sensory neuropathy, type iic 12.4
9 hereditary motor and sensory neuropathy with acrodystrophy 12.3
10 charcot-marie-tooth disease 12.2
11 gdap1-related hereditary motor and sensory neuropathy 12.1
12 neuropathy, hereditary motor and sensory, russe type 12.1
13 charcot-marie-tooth disease, type 2a2 11.9
14 charcot-marie-tooth disease, type 1a 11.9
15 agenesis of the corpus callosum with peripheral neuropathy 11.8
16 charcot-marie-tooth disease, type 2e 11.7
17 neuropathy, hereditary motor and sensory, type vib 11.7
18 charcot-marie-tooth disease, type 1b 11.7
19 charcot-marie-tooth disease, type 4d 11.7
20 charcot-marie-tooth disease, type 1d 11.7
21 charcot-marie-tooth disease, type 2b 11.6
22 neuropathy, recurrent, with pressure palsies 11.6
23 charcot-marie-tooth neuropathy, x-linked dominant, 1 11.6
24 charcot-marie-tooth disease, axonal, type 2s 11.6
25 charcot-marie-tooth disease, type 1c 11.4
26 giant axonal neuropathy 2, autosomal dominant 11.4
27 roussy-levy syndrome 11.4
28 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers 11.4
29 refsum disease 11.4
30 charcot-marie-tooth disease, dominant intermediate b 11.4
31 charcot-marie-tooth disease, type 4b2 11.3
32 charcot-marie-tooth disease, type 2b1 11.3
33 charcot-marie-tooth disease, type 2b2 11.3
34 charcot-marie-tooth disease, type 4a 11.3
35 cowchock syndrome 11.3
36 charcot-marie-tooth neuropathy type 1 11.2
37 x-linked charcot-marie-tooth disease 11.2
38 hereditary neuropathies 11.1
39 pmp2-related charcot-marie-tooth disease type 1 11.1
40 neuropathy, hereditary sensory and autonomic, type ii 11.1
41 charcot-marie-tooth disease type 5 11.1
42 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 11.1
43 charcot-marie-tooth disease type 2a 11.1
44 charcot-marie-tooth disease type 2c 11.1
45 charcot-marie-tooth neuropathy x 11.1
46 motor neuropathy, peripheral, with dysautonomia 11.0
47 motor sensory neuropathy type 1 aplasia cutis congenita 11.0
48 hereditary type 2 neuropathy 10.2 MPZ PMP22
49 charcot-marie-tooth disease, type 2i 10.2 KIF1B MPZ
50 craniorachischisis 10.2 MPZ PMP22

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



Diseases related to Motor Peripheral Neuropathy

Symptoms & Phenotypes for Motor Peripheral Neuropathy

UMLS symptoms related to Motor Peripheral Neuropathy:


neurologic symptoms

MGI Mouse Phenotypes related to Motor Peripheral Neuropathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 DYNC1H1 GDAP1 GJB1 KIF1B MFN2 MPZ
2 cellular MP:0005384 9.8 GDAP1 GJB1 MFN2 MPZ NDRG1 PMP22
3 mortality/aging MP:0010768 9.76 PMP22 DYNC1H1 GJB1 KIF1B MFN2 MPZ
4 muscle MP:0005369 9.43 DYNC1H1 KIF1B MFN2 NDRG1 PMP22 SLC12A6
5 nervous system MP:0003631 9.32 GDAP1 GJB1 KIF1B MFN2 MPZ MTMR2

Drugs & Therapeutics for Motor Peripheral Neuropathy

Drugs for Motor Peripheral Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 287)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
2
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3 137-58-6 3676
3
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
7
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
8
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
9
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
10
Levobupivacaine Approved Phase 4 27262-47-1 92253
11
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 124-94-7 31307
12
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
13
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
14
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
15
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2,Phase 3 76-42-6 5284603
16
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
17
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
18 Protective Agents Phase 4,Phase 2,Phase 3
19 Anesthetics Phase 4,Phase 3,Phase 2
20 Anesthetics, Local Phase 4,Phase 2,Phase 3
21 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
22 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
23 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3
24 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
25 Sodium Channel Blockers Phase 4,Phase 2,Phase 3
26 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
27 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
28 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
29 Antiemetics Phase 4,Phase 2,Phase 3
30 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
31 Autonomic Agents Phase 4,Phase 2,Phase 3
32 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
33 glucocorticoids Phase 4,Phase 3,Phase 2
34 Hormone Antagonists Phase 4,Phase 3,Phase 2
35 Hormones Phase 4,Phase 3,Phase 2
36 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
37 Methylprednisolone acetate Phase 4,Phase 2,Phase 3
38 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3
39 Neuroprotective Agents Phase 4,Phase 2,Phase 3
40 Prednisolone acetate Phase 4,Phase 2,Phase 3
41 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3
42 Prednisolone phosphate Phase 4,Phase 2,Phase 3
43 Anticonvulsants Phase 4,Phase 3,Phase 2
44 Antimanic Agents Phase 4,Phase 3,Phase 2
45 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Psychotropic Drugs Phase 4,Phase 3,Phase 2
47 Tranquilizing Agents Phase 4,Phase 3,Phase 2
48 Adrenergic Agents Phase 4,Phase 3,Phase 2
49 Adrenergic Agonists Phase 4
50 Adrenergic alpha-Agonists Phase 4

Interventional clinical trials:

(show top 50) (show all 394)
id Name Status NCT ID Phase
1 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4
3 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
4 Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters Completed NCT00678314 Phase 4
5 Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol for Carpal Tunnel and Distal Radius Fracture Surgeries Completed NCT02313675 Phase 4
6 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
7 A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4
8 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4
9 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
10 Comparison of the Analgesic Effect of Different Local Anesthetics in Interscalene Nerve Block for Shoulder Surgery Completed NCT02691442 Phase 4
11 Comparison of the Efficacy of rTMS and tDCS of the Motor Cortex in Patients With Chronic Neuropathic Pain Completed NCT02030626 Phase 4
12 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4
13 Analgesic Effect of Non Invasive Stimulation : Comparison of rTMS and tDCS Efficacy Recruiting NCT01800136 Phase 4
14 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4
15 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Enrolling by invitation NCT02029235 Phase 4
16 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Enrolling by invitation NCT02652390 Phase 4
17 Epidural Steroid Injections With Low-dose Lidocaine Cause Transient Objective Upper Extremity Weakness Not yet recruiting NCT03127137 Phase 4
18 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4
19 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4
20 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
21 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
22 Evaluation of Bortezomib Induced Peripheral Neuropathy of Multiple Myeloma (MM) Patients Unknown status NCT00872352 Phase 3
23 Prospective Evaluation of Reverse End to Side Anterior Interosseous Nerve to Ulnar Nerve Transfer for Severe Compressive Ulnar Neuropathy at the Elbow Unknown status NCT02281656 Phase 3
24 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
25 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
26 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3
27 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3
28 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3
29 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3
30 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3
31 Phase III Clinical Trial of NPB-01maintenance Therapy in Patients With Multifocal Motor Neuropathy. Completed NCT01827072 Phase 3
32 Study of the Effectiveness of Intravenous Immune Globulin (10%) for the Treatment of Multifocal Motor Neuropathy Completed NCT00666263 Phase 3
33 LIME Study (LFB IVIg MMN Efficacy Study) Completed NCT01951924 Phase 3
34 Baclofen-Amitriptyline Hydrochloride-Ketamine Gel in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer Completed NCT00516503 Phase 3
35 Evaluating the Efficacy and Safety of Oral Ranirestat (40 and 80 mg) in Mild to Moderate Diabetic Sensorimotor Polyneuropathy Completed NCT00927914 Phase 2, Phase 3
36 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3
37 Placebo-controlled Safety and Efficacy Study of Pregabalin in Subjects With Post-traumatic Peripheral Neuropathic Pain Completed NCT01701362 Phase 3
38 Electromagnetic Stimulation (FREMS) in Patients With Painful Diabetic Neuropathy Completed NCT00337324 Phase 2, Phase 3
39 Immune Globulin Intravenous (IGIV) For Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Completed NCT00220740 Phase 3
40 Physiotherapy for Sciatica; Is Earlier Better? Completed NCT02618278 Phase 3
41 Phase III Clinical Trial of NPB-01maintenance Therapy in Patients With Chronic Inflammatory Demyelinating Polyneuropathy. Completed NCT01824251 Phase 3
42 Efficacy and Safety Study of GB-0998 for Guillain-Barré Syndrome Completed NCT02342184 Phase 3
43 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00633880 Phase 3
44 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3
45 Calcium Gluconate and Magnesium Sulfate in Preventing Neurotoxicity in Patients With Colon Cancer or Rectal Cancer Receiving Oxaliplatin-Based Combination Chemotherapy Completed NCT01099449 Phase 3
46 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
47 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Recruiting NCT02141035 Phase 2, Phase 3
48 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
49 12-Month Efficacy and Safety of Diepalrestat in Adults With Diabetic Peripheral Neuropathy, a DB, Placebo-Controlled Study Recruiting NCT02332005 Phase 2, Phase 3
50 Prevention of Chemotherapy-Related Polyneuropathy Via Sensorimotor Exercise Training Recruiting NCT02871284 Phase 2, Phase 3

Search NIH Clinical Center for Motor Peripheral Neuropathy

Cochrane evidence based reviews: hereditary sensory and motor neuropathy

Genetic Tests for Motor Peripheral Neuropathy

Anatomical Context for Motor Peripheral Neuropathy

Publications for Motor Peripheral Neuropathy

Articles related to Motor Peripheral Neuropathy:

id Title Authors Year
1
Both Schwann cell and axonal defects cause motor peripheral neuropathy in Ebf2-/- mice. ( 21220016 )
2011
2
Paraneoplastic encephalomyelitis/sensory motor peripheral neuropathy - an autopsy case study. ( 16012914 )
2005
3
Dapsone-induced motor peripheral neuropathy in pemphigus foliaceus. ( 8565254 )
1995
4
Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy. ( 3014798 )
1986
5
Hereditary motor peripheral neuropathy predominantly affecting the arms. ( 180264 )
1976

Variations for Motor Peripheral Neuropathy

ClinVar genetic disease variations for Motor Peripheral Neuropathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DYNC1H1 NM_001376.4(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 GRCh37 Chromosome 14, 102452354: 102452354

Expression for Motor Peripheral Neuropathy

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

Pathways for Motor Peripheral Neuropathy

Pathways related to Motor Peripheral Neuropathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

GO Terms for Motor Peripheral Neuropathy

Biological processes related to Motor Peripheral Neuropathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.33 MPZ PMP22 SLC12A6
2 myelination GO:0042552 9.26 MPZ PMP22
3 protein targeting to mitochondrion GO:0006626 8.96 GDAP1 MFN2
4 mitochondrial fusion GO:0008053 8.62 GDAP1 MFN2

Sources for Motor Peripheral Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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