ROULS
MCID: RSS026
MIFTS: 55

Roussy-Levy Hereditary Areflexic Dystasia (ROULS)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Roussy-Levy Hereditary Areflexic Dystasia

MalaCards integrated aliases for Roussy-Levy Hereditary Areflexic Dystasia:

Name: Roussy-Levy Hereditary Areflexic Dystasia 57 75 73
Roussy-Levy Syndrome 57 58 73 12 53 38 71
Roussy-Lévy Syndrome 28 5 75
Charcot-Marie-Tooth Disease 19 71
Hereditary Areflexic Dystasia, Roussy-Levy Type 58
Hereditary Motor and Sensory Neuropathy Type I 71
Roussy Levy Hereditary Areflexic Dystasia 19
Charcot-Marie-Tooth-Roussy-Levy Disease 19
Hereditary Motor Sensory Neuropathy I 19
Hereditary Areflexic Dystasia 19
Roussy Levy Syndrome 19
Roussy-Levy Disease 19
Hmsn I 19
Rouls 73

Characteristics:


Inheritance:

Autosomal dominant 57

Age Of Onset:

Roussy-Levy Syndrome: Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
onset in early childhood
allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, ) and dejerine-sottas syndrome (dss, )


HPO:

30
roussy-levy hereditary areflexic dystasia:
Onset and clinical course slowly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 180800
ICD10 via Orphanet 32 G60.0
UMLS via Orphanet 72 C0205713
Orphanet 58 ORPHA3115
MedGen 40 C0205713
UMLS 71 C0007959 C0205713 C0751036

Summaries for Roussy-Levy Hereditary Areflexic Dystasia

GARD: 19 Roussy Levy syndrome is a term used to describe a neuromuscular disorder that typically becomes apparent during early childhood. This syndrome is considered a form of Charcot-Marie-Tooth (CMT) disease. Individuals with this disorder have clinical symptoms similar to Charcot-Marie-Tooth (CMT) disease type 1, which is characterized by muscle weakness and atrophy, poor judgement of movement (sensory ataxia), absent reflexes (areflexia) of the lower legs and hands, and abnormally high arches of the feet (pes cavus or "clawfoot"). Additional features of rhythmic shaking (static tremor) in the hands and an unsteady gait (gait ataxia) are specific to Roussy Levy syndrome. This disorder is caused by issues with nerve conduction and sensory dysfunction. Roussy Levy syndrome may result from a duplication of the PMP22 gene (which is also associated with CMT1A) or a genetic change in the myelin protein zero (MPZ) gene (genetic changes in this gene are also associated with CMT1B). Roussy Levy syndrome is inherited in an autosomal dominant manner.

MalaCards based summary: Roussy-Levy Hereditary Areflexic Dystasia, also known as roussy-levy syndrome, is related to charcot-marie-tooth disease and deafness and charcot-marie-tooth disease, axonal, type 2e, and has symptoms including tremor, back pain and headache. An important gene associated with Roussy-Levy Hereditary Areflexic Dystasia is MPZ (Myelin Protein Zero), and among its related pathways/superpathways are Neural crest differentiation and EGR2 and SOX10-mediated initiation of Schwann cell myelination. The drugs Folic acid and Lipoic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skeletal muscle and tonsil, and related phenotypes are nystagmus and talipes equinovarus

Orphanet: 58 A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.

UniProtKB/Swiss-Prot: 73 Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia.

OMIM®: 57 Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999). (180800) (Updated 08-Dec-2022)

Wikipedia: 75 Roussy-Lévy syndrome, also known as Roussy-Lévy areflexic dystasia, is a rare disorder of humans that... more...

Related Diseases for Roussy-Levy Hereditary Areflexic Dystasia

Diseases related to Roussy-Levy Hereditary Areflexic Dystasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 620)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 33.0 PMP22 MPZ
2 charcot-marie-tooth disease, axonal, type 2e 32.9 PMP22 MPZ
3 charcot-marie-tooth disease, demyelinating, type 1c 32.9 PMP22 MPZ
4 charcot-marie-tooth disease, demyelinating, type 1d 32.9 PMP22 MPZ
5 charcot-marie-tooth disease, demyelinating, type 1f 32.9 PMP22 MPZ
6 charcot-marie-tooth disease, type 4b3 32.8 PMP22 MPZ
7 charcot-marie-tooth disease type 1g 32.6 PMP22 MPZ
8 charcot-marie-tooth disease type x 32.4 PMP22 MPZ
9 charcot-marie-tooth disease, demyelinating, type 1b 31.5 PMP22 MPZ
10 charcot-marie-tooth disease, x-linked dominant, 1 31.4 PMP22 MPZ
11 charcot-marie-tooth disease 30.5 PMP22 MPZ
12 guillain-barre syndrome 30.4 PMP22 MPZ
13 polyradiculoneuropathy 30.4 PMP22 MPZ
14 carpal tunnel syndrome 30.3 PMP22 MPZ
15 neuropathy, hereditary, with liability to pressure palsies 30.2 PMP22 MPZ
16 diabetic neuropathy 30.2 PMP22 MPZ
17 neurilemmoma 30.2 PMP22 MPZ
18 sensory peripheral neuropathy 30.1 PMP22 MPZ
19 amyotrophic neuralgia 30.1 PMP22 MPZ
20 neuritis 30.1 PMP22 MPZ
21 neuropathy, congenital hypomyelinating, 1, autosomal recessive 30.1 PMP22 MPZ
22 neuropathy 30.0 PMP22 MPZ
23 tooth disease 30.0 PMP22 MPZ
24 hypomyelinating leukodystrophy 29.9 PMP22 MPZ
25 chronic inflammatory demyelinating polyradiculoneuropathy 29.9 PMP22 MPZ
26 nerve compression syndrome 29.9 PMP22 MPZ
27 demyelinating polyneuropathy 29.9 PMP22 MPZ
28 pelizaeus-merzbacher disease 29.8 PMP22 MPZ
29 charcot-marie-tooth disease, demyelinating, type 1a 29.8 PMP22 MPZ
30 neuromuscular disease 29.7 PMP22 MPZ
31 hereditary neuropathies 29.6 PMP22 MPZ
32 polyneuropathy 29.6 PMP22 MPZ
33 hypertrophic neuropathy of dejerine-sottas 29.5 PMP22 MPZ
34 peripheral nervous system disease 29.1 PMP22 MPZ
35 charcot-marie-tooth disease, axonal, type 2b1 12.2
36 charcot-marie-tooth disease, axonal, type 2b2 12.2
37 charcot-marie-tooth disease, type 4a 12.2
38 charcot-marie-tooth disease, type 4b1 12.2
39 charcot-marie-tooth disease, type 4b2 12.2
40 charcot-marie-tooth disease, dominant intermediate b 12.2
41 charcot-marie-tooth disease, axonal, type 2b 12.2
42 charcot-marie-tooth disease, axonal, type 2f 12.2
43 charcot-marie-tooth disease, axonal, type 2a1 12.1
44 charcot-marie-tooth disease, axonal, type 2k 12.1
45 charcot-marie-tooth disease, type 4k 12.1
46 charcot-marie-tooth disease, axonal, type 2p 12.1
47 charcot-marie-tooth disease, axonal, type 2d 12.1
48 charcot-marie-tooth disease, type 4d 12.1
49 charcot-marie-tooth disease, type 4h 12.1
50 charcot-marie-tooth disease, type 4j 12.1

Graphical network of the top 20 diseases related to Roussy-Levy Hereditary Areflexic Dystasia:



Diseases related to Roussy-Levy Hereditary Areflexic Dystasia

Symptoms & Phenotypes for Roussy-Levy Hereditary Areflexic Dystasia

Human phenotypes related to Roussy-Levy Hereditary Areflexic Dystasia:

58 30 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
2 talipes equinovarus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001762
3 kyphoscoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002751
4 impaired pain sensation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007328
5 areflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001284
6 pes cavus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001761
7 decreased motor nerve conduction velocity 58 30 Frequent (33%) Frequent (79-30%)
HP:0003431
8 gait ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002066
9 impaired vibratory sensation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002495
10 difficulty walking 58 30 Frequent (33%) Frequent (79-30%)
HP:0002355
11 unsteady gait 58 30 Frequent (33%) Frequent (79-30%)
HP:0002317
12 clumsiness 58 30 Frequent (33%) Frequent (79-30%)
HP:0002312
13 limb ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002070
14 sensorimotor neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007141
15 postural tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0002174
16 lower limb muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0007340
17 acute demyelinating polyneuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007131
18 genu valgum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002857
19 babinski sign 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003487
20 frequent falls 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002359
21 urinary bladder sphincter dysfunction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002839
22 intrinsic hand muscle atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008954
23 distal amyotrophy 58 30 Frequent (79-30%)
HP:0003693
24 scoliosis 58 Frequent (79-30%)
25 skeletal muscle atrophy 58 Occasional (29-5%)
26 motor delay 30 HP:0001270
27 abnormality of the immune system 30 HP:0002715
28 hyporeflexia 30 HP:0001265
29 distal muscle weakness 30 HP:0002460
30 hammertoe 30 HP:0001765
31 sensory impairment 58 Frequent (79-30%)
32 distal sensory impairment 30 HP:0002936
33 decreased number of peripheral myelinated nerve fibers 30 HP:0003380
34 segmental peripheral demyelination/remyelination 30 HP:0003481
35 upper limb postural tremor 30 HP:0007351
36 onion bulb formation 30 HP:0003383
37 hypertrophic nerve changes 30 HP:0003382

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
upper limb postural tremor
hypertrophic nerve changes
more
Skeletal Spine:
kyphoscoliosis may be present

Skeletal Feet:
pes cavus
foot deformities
hammer toes

Immunology:
foot ulcerations
foot infections leading to amputation

Clinical features from OMIM®:

180800 (Updated 08-Dec-2022)

UMLS symptoms related to Roussy-Levy Hereditary Areflexic Dystasia:


tremor; back pain; headache; gait ataxia; syncope; pain; chronic pain; sciatica; seizures; vertigo/dizziness; sleeplessness; cerebellar ataxia

Drugs & Therapeutics for Roussy-Levy Hereditary Areflexic Dystasia

Drugs for Roussy-Levy Hereditary Areflexic Dystasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2
Lipoic acid Approved, Investigational, Nutraceutical Phase 4 1200-22-2 864 6112
3 Folate Phase 4
4 Vitamins Phase 4
5 Vitamin B9 Phase 4
6 Trace Elements Phase 4
7 Vitamin B Complex Phase 4
8 Micronutrients Phase 4
9 Antioxidants Phase 4
10 Protective Agents Phase 4
11 Alpha-lipoic Acid Phase 4
12
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8
13
Baclofen Approved Phase 3 1134-47-0 2284
14
Sorbitol Approved, Investigational Phase 3 69-65-8, 50-70-4 453 6251 5780
15
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
16
Ethanol Approved Phase 3 64-17-5 702
17
Ascorbic acid Approved, Nutraceutical Phase 2, Phase 3 50-81-7 54676860 54670067 5785
18
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 2, Phase 3 461-06-3
19 Nootropic Agents Phase 2, Phase 3
20 Pharmaceutical Solutions Phase 3
21 Cathartics Phase 3
22 Neurotransmitter Agents Phase 3
23 Laxatives Phase 3
24 GABA Agonists Phase 3
25 Gastrointestinal Agents Phase 3
26 Narcotic Antagonists Phase 3
27 Narcotics Phase 3
28 Neuroprotective Agents Phase 2, Phase 3
29
Epoetin Alfa Phase 2, Phase 3
30 Hematinics Phase 2, Phase 3
31
Mexiletine Approved, Investigational Phase 2 5370-01-4, 31828-71-4 4178
32
Biotin Approved, Investigational, Nutraceutical Phase 2 58-85-5 253 171548
33
Ubidecarenone Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
34 Vitamin B7 Phase 2
35 Ubiquinone Phase 1, Phase 2
36
Ulipristal acetate Phase 2 126784-99-4 13559282 130904
37
Iron Approved 7439-89-6 29936
38
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
39
Tannic acid Approved 1401-55-4 16129878 16129778
40
Ropivacaine Approved 84057-95-4 71273 175805
41
Cholecalciferol Approved, Nutraceutical, Vet_approved 67-97-0, 1406-16-2 5280795 10883523
42
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
43
Chitosan low molecular weight (20-200 mpa.s) Experimental 14257-69-3, 9012-76-4 441477 71853
44 Analgesics
45 Calciferol
46 Calcium, Dietary
47 Insulin, Globin Zinc
48
Insulin
49 Immunosuppressive Agents
50 Immunologic Factors

Interventional clinical trials:

(show top 50) (show all 79)
# Name Status NCT ID Phase Drugs
1 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
3 A Multicenter Study to Evaluate the Effects on Charcot-Marie-Tooth Neuropathy Type 1A of a Composite Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program. Unknown status NCT01289704 Phase 2, Phase 3
4 A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A. Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
5 International, Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study Assessing in Parallel Groups the Efficacy and Safety of 2 Doses of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Treated 15 Months Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
6 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome; a Randomized Control Trial. Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
7 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Phase III Study to Assess the Efficacy and Safety of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Treated 15 Months Recruiting NCT05092841 Phase 3 PXT3003;PXT3003 placebo
8 International, Multi-center, Open Label, Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Active, not recruiting NCT03023540 Phase 3 PXT3003
9 A Multi-center, Randomized, Double-blind, Placebo Controlled Phase III Study to Assess the Efficacy, Safety, and Tolerability of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Active, not recruiting NCT04762758 Phase 3 (RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
10 Recombinant Human Erythropoietin (r-HuEPO) in the Prevention of Neurologic Sequelae From Malignant Spinal Cord Compression: a Multi-Center, Placebo-Controlled, Phase 2 Randomized Study Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
11 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
12 SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Completed NCT02967679 Phase 2 MD1003
13 Effects of Coenzyme Q10 (CoQ10) on Subjects With Charcot-Marie-Tooth Disease (CMT):A Double Blind, Randomized, Controlled Trial With an Open Label Follow-up Study Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
14 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
15 A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A. Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
16 Single Center, Open Label, Repeat Intramuscular Administration, 270 Days, Phase I/2a Clinical Trial to Evaluate Safety, Tolerability of Investigational Product (Engensis: VM202) With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A) Completed NCT05361031 Phase 1, Phase 2
17 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
18 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
19 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Suspended NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
20 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Terminated NCT03124459 Phase 2 ACE-083;Placebo
21 A Randomized, Double-Blind, Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of FLX-787-ODT for Treatment of Muscle Cramps in Adult Subjects With Charcot-Marie-Tooth Disease Terminated NCT03254199 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
22 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Terminated NCT03943290 Phase 2 ACE-083
23 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
24 Open-label, Dose-escalation, Phase 1 Clinical Trial to Determine the Safety and Dose of EN001 in Patients With Charcot-Marie-Tooth Disease (CMT) Type 1A Recruiting NCT05333406 Phase 1 EN001
25 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Unknown status NCT03550300
26 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
27 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
28 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Unknown status NCT03278093
29 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
30 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
31 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038
32 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
33 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
34 A Randomized Double Blind Longitudinal Study to Determine Motor Unit Number Index Variability in CMT1A Patients Undergoing a Home Ankle Strengthening Program Versus Standard of Care Completed NCT03715283
35 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
36 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
37 Influence of Irisin on Muscle Quality in a Cohort of Charcot-Marie-Tooth Patients Completed NCT04786522
38 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
39 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
40 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Completed NCT03386266
41 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
42 An Open Observational Study of Clinical and Electrophysiological Outcomes in Male and Female Patients With CMT Type 1 & 2, and Aged-matched Healthy Controls Completed NCT04980807
43 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
44 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722
45 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
46 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333
47 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
48 Posterior Interosseous Nerve Pathology May Provide Novel Insights Into Both Predisposition and Potential Vascular Basis for the Development of Carpal Tunnel Syndrome in Diabetic Patients. Completed NCT00856011
49 The Management of Abdominal Cutaneous Nerve Entrapment Syndrome Completed NCT03574727
50 Evaluation of the Efficacy of High Intensity Laser (HILT) Therapy in Idiopathic Carpal Tunnel Syndrome Completed NCT04949373

Search NIH Clinical Center for Roussy-Levy Hereditary Areflexic Dystasia

Genetic Tests for Roussy-Levy Hereditary Areflexic Dystasia

Genetic tests related to Roussy-Levy Hereditary Areflexic Dystasia:

# Genetic test Affiliating Genes
1 Roussy-Lévy Syndrome 28 MPZ PMP22

Anatomical Context for Roussy-Levy Hereditary Areflexic Dystasia

Organs/tissues related to Roussy-Levy Hereditary Areflexic Dystasia:

MalaCards : Spinal Cord, Skeletal Muscle, Tonsil, Dorsal Root Ganglion, Brain, Skin, Liver

Publications for Roussy-Levy Hereditary Areflexic Dystasia

Articles related to Roussy-Levy Hereditary Areflexic Dystasia:

(show top 50) (show all 3526)
# Title Authors PMID Year
1
The Roussy-Lévy family: from the original description to the gene. 62 57 5
10553995 1999
2
Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. 62 57 5
9543325 1998
3
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. 62 5
19259128 2009
4
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. 62 5
15786462 2005
5
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. 62 5
8105684 1993
6
Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12. 62 5
8500795 1993
7
De-novo mutation in hereditary motor and sensory neuropathy type I. 62 5
1349106 1992
8
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. 62 5
1301995 1992
9
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. 62 5
1552536 1992
10
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. 62 5
1552545 1992
11
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2. 62 5
1721895 1991
12
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. 62 5
1677316 1991
13
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. 62 5
1822787 1991
14
Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy. 62 5
475348 1979
15
A kinship with the Roussy-Levy syndrome. 62 57
5834704 1965
16
[Study of hereditary areflexic dystasia; present condition of four of the first seven cases of Roussy and Mlle. Lévy thirty years after the first publication of these authors]. 62 57
13360305 1956
17
Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy). 57
4467779 1974
18
Hereditary areflex dystasia; report on a family with Roussy-Lévy disease in Israel. 57
14863318 1951
19
THE BAR "GENE" A DUPLICATION. 5
17796454 1936
20
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome. 53 62
18592125 2008
21
[Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)]. 53 62
11186918 2000
22
Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI. 62
36151728 2022
23
TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration. 62
35986567 2022
24
A SARM1-mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model. 62
36287202 2022
25
A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication. 62
36350884 2022
26
No Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort. 62
36431311 2022
27
A method to identify, dissect and stain equine neuromuscular junctions for morphological analysis. 62
36087283 2022
28
The 2022 Lady Estelle Wolfson lectureship on neurofilaments. 62
35950263 2022
29
Clinically relevant mouse models of Charcot-Marie-Tooth Type 2S. 62
36413117 2022
30
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1. 62
34875719 2022
31
Autophagic lysosome reformation in health and disease. 62
36409033 2022
32
Young infants with PMP22 duplication can have minor nerve conduction study abnormalities. 62
36253232 2022
33
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. 62
35148379 2022
34
A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease. 62
36394156 2022
35
Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease. 62
36376020 2022
36
Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease. 62
36458502 2022
37
EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study. 62
35770518 2022
38
Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system. 62
36403785 2022
39
Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice. 62
36434903 2022
40
Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report. 62
36397455 2022
41
Dynamin-2 deficiency causes age- and sex-dependent neutropenia and myelodysplasia in mice. 62
36417761 2022
42
A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy. 62
36307205 2022
43
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. 62
35815345 2022
44
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy. 62
36260368 2022
45
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. 62
36203352 2022
46
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H. 62
36314052 2022
47
Stance and swing phase ankle phenotypes in youth with Charcot-Marie-Tooth type 1: An evaluation using comprehensive gait analysis techniques. 62
36179412 2022
48
Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. 62
33587240 2022
49
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. 62
35790048 2022
50
Hereditary motor and sensory neuropathy with SOD1-mutant: A case report. 62
36316849 2022

Variations for Roussy-Levy Hereditary Areflexic Dystasia

ClinVar genetic disease variations for Roussy-Levy Hereditary Areflexic Dystasia:

5 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMP22 PMP22, 1.4-MB DUP DUP Pathogenic
8427 GRCh37:
GRCh38:
2 MPZ NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) SNV Pathogenic
14191 rs121913603 GRCh37: 1:161276512-161276512
GRCh38: 1:161306722-161306722
3 MPZ NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) SNV Pathogenic
14170 rs121913586 GRCh37: 1:161276204-161276204
GRCh38: 1:161306414-161306414
4 MPZ NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) SNV Pathogenic
14186 rs121913599 GRCh37: 1:161276553-161276553
GRCh38: 1:161306763-161306763
5 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met) SNV Pathogenic
14181 rs121913595 GRCh37: 1:161276575-161276575
GRCh38: 1:161306785-161306785
6 PMP22 NM_000304.4(PMP22):c.434del (p.Leu145fs) DEL Pathogenic
217238 rs863225029 GRCh37: 17:15134283-15134283
GRCh38: 17:15230966-15230966
7 MPZ NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) SNV Likely Pathogenic
462797 rs1553259648 GRCh37: 1:161276549-161276549
GRCh38: 1:161306759-161306759
8 MPZ NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) SNV Likely Pathogenic
216963 rs754068936 GRCh37: 1:161276252-161276252
GRCh38: 1:161306462-161306462
9 PMP22 NM_000304.4(PMP22):c.36C>A (p.His12Gln) SNV Likely Pathogenic
8434 rs104894622 GRCh37: 17:15164009-15164009
GRCh38: 17:15260692-15260692
10 MPZ NM_000530.8(MPZ):c.699T>G (p.Ser233Arg) SNV Likely Pathogenic
374017 rs1057518839 GRCh37: 1:161275714-161275714
GRCh38: 1:161305924-161305924
11 MPZ NM_000530.8(MPZ):c.392dup (p.Asn131fs) DUP Likely Pathogenic
930962 GRCh37: 1:161276553-161276554
GRCh38: 1:161306763-161306764
12 MPZ NM_000530.8(MPZ):c.173T>A (p.Val58Asp) SNV Likely Pathogenic
637777 rs1571820049 GRCh37: 1:161277109-161277109
GRCh38: 1:161307319-161307319
13 MPZ NM_000530.8(MPZ):c.603dup (p.Leu202fs) DUP Uncertain Significance
931561 GRCh37: 1:161275939-161275940
GRCh38: 1:161306149-161306150
14 PMP22 NM_000304.4(PMP22):c.422T>G (p.Val141Gly) SNV Uncertain Significance
373965 rs1057518804 GRCh37: 17:15134295-15134295
GRCh38: 17:15230978-15230978
15 MPZ NM_000530.8(MPZ):c.428C>T (p.Thr143Met) SNV Uncertain Significance
531684 rs750724650 GRCh37: 1:161276518-161276518
GRCh38: 1:161306728-161306728
16 MPZ NM_000530.8(MPZ):c.186C>G (p.Ile62Met) SNV Uncertain Significance
14194 rs121913605 GRCh37: 1:161277096-161277096
GRCh38: 1:161307306-161307306
17 MPZ NM_000530.8(MPZ):c.*954C>A SNV Uncertain Significance
293301 rs372340608 GRCh37: 1:161274712-161274712
GRCh38: 1:161304922-161304922
18 MPZ NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) SNV Uncertain Significance
293312 rs886045475 GRCh37: 1:161276188-161276188
GRCh38: 1:161306398-161306398
19 MPZ NM_000530.8(MPZ):c.*681A>T SNV Uncertain Significance
293306 rs886045474 GRCh37: 1:161274985-161274985
GRCh38: 1:161305195-161305195
20 MPZ NM_000530.8(MPZ):c.*1020G>A SNV Uncertain Significance
293300 rs886045472 GRCh37: 1:161274646-161274646
GRCh38: 1:161304856-161304856
21 MPZ NM_000530.8(MPZ):c.*251C>G SNV Uncertain Significance
293309 rs772995394 GRCh37: 1:161275415-161275415
GRCh38: 1:161305625-161305625
22 PMP22 NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) SNV Uncertain Significance
462781 rs1022583382 GRCh37: 17:15134239-15134239
GRCh38: 17:15230922-15230922
23 PMP22 NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) SNV Uncertain Significance
188195 rs756046682 GRCh37: 17:15142922-15142922
GRCh38: 17:15239605-15239605
24 MPZ NM_000530.8(MPZ):c.*102C>T SNV Uncertain Significance
874516 rs774748921 GRCh37: 1:161275564-161275564
GRCh38: 1:161305774-161305774
25 MPZ NM_000530.8(MPZ):c.184A>G (p.Ile62Val) SNV Uncertain Significance
875495 rs121913602 GRCh37: 1:161277098-161277098
GRCh38: 1:161307308-161307308
26 MPZ NM_000530.8(MPZ):c.*752G>A SNV Uncertain Significance
876373 rs533147214 GRCh37: 1:161274914-161274914
GRCh38: 1:161305124-161305124
27 MPZ NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) SNV Uncertain Significance
246524 rs200151353 GRCh37: 1:161277149-161277149
GRCh38: 1:161307359-161307359
28 MPZ NM_000530.8(MPZ):c.200G>A (p.Arg67His) SNV Uncertain Significance
237875 rs201720099 GRCh37: 1:161277082-161277082
GRCh38: 1:161307292-161307292
29 MPZ NM_000530.8(MPZ):c.*369C>T SNV Uncertain Significance
876415 rs1359055917 GRCh37: 1:161275297-161275297
GRCh38: 1:161305507-161305507
30 MPZ NM_000530.8(MPZ):c.*903G>A SNV Uncertain Significance
876254 rs1489097338 GRCh37: 1:161274763-161274763
GRCh38: 1:161304973-161304973
31 MPZ NM_000530.8(MPZ):c.*435T>G SNV Uncertain Significance
875384 rs868502674 GRCh37: 1:161275231-161275231
GRCh38: 1:161305441-161305441
32 MPZ NM_000530.8(MPZ):c.*522C>A SNV Uncertain Significance
875383 rs900816889 GRCh37: 1:161275144-161275144
GRCh38: 1:161305354-161305354
33 MPZ NM_000530.8(MPZ):c.*341A>G SNV Uncertain Significance
874466 rs557613782 GRCh37: 1:161275325-161275325
GRCh38: 1:161305535-161305535
34 MPZ NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) SNV Uncertain Significance
873574 rs1670257548 GRCh37: 1:161276502-161276502
GRCh38: 1:161306712-161306712
35 MPZ NM_000530.8(MPZ):c.*858T>C SNV Uncertain Significance
293303 rs886045473 GRCh37: 1:161274808-161274808
GRCh38: 1:161305018-161305018
36 MPZ NM_000530.8(MPZ):c.*1074A>C SNV Uncertain Significance
293298 rs886045471 GRCh37: 1:161274592-161274592
GRCh38: 1:161304802-161304802
37 MPZ NM_000530.8(MPZ):c.504G>A (p.Val168=) SNV Likely Benign
293313 rs145592910 GRCh37: 1:161276199-161276199
GRCh38: 1:161306409-161306409
38 MPZ NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) SNV Likely Benign
246572 rs202176679 GRCh37: 1:161275906-161275906
GRCh38: 1:161306116-161306116
39 MPZ, SDHC NM_003001.5(SDHC):c.-38G>A SNV Benign
368837 rs112556972 GRCh37: 1:161284158-161284158
GRCh38: 1:161314368-161314368
40 MPZ NM_000530.8(MPZ):c.684C>T (p.Ser228=) SNV Benign
129619 rs34307129 GRCh37: 1:161275729-161275729
GRCh38: 1:161305939-161305939
41 MPZ NM_000530.8(MPZ):c.*360C>G SNV Benign
876416 rs6682046 GRCh37: 1:161275306-161275306
GRCh38: 1:161305516-161305516
42 MPZ NM_000530.8(MPZ):c.*624C>T SNV Benign
293307 rs60821801 GRCh37: 1:161275042-161275042
GRCh38: 1:161305252-161305252
43 MPZ NM_000530.8(MPZ):c.*901GA[7] MICROSAT Benign
293302 rs149030537 GRCh37: 1:161274755-161274756
GRCh38: 1:161304965-161304966
44 MPZ NM_000530.8(MPZ):c.*568C>G SNV Benign
293308 rs60731755 GRCh37: 1:161275098-161275098
GRCh38: 1:161305308-161305308
45 MPZ NM_000530.8(MPZ):c.*195G>T SNV Benign
293310 rs150182811 GRCh37: 1:161275471-161275471
GRCh38: 1:161305681-161305681
46 MPZ NM_000530.8(MPZ):c.-49C>A SNV Benign
293315 rs750777955 GRCh37: 1:161279744-161279744
GRCh38: 1:161309954-161309954
47 MPZ NM_000530.8(MPZ):c.*761A>G SNV Benign
293304 rs16832786 GRCh37: 1:161274905-161274905
GRCh38: 1:161305115-161305115
48 MPZ NM_000530.8(MPZ):c.*743C>T SNV Benign
293305 rs140992541 GRCh37: 1:161274923-161274923
GRCh38: 1:161305133-161305133
49 MPZ NM_000530.8(MPZ):c.*52G>A SNV Benign
293311 rs774701563 GRCh37: 1:161275614-161275614
GRCh38: 1:161305824-161305824
50 MPZ NM_000530.8(MPZ):c.*1048A>T SNV Benign
293299 rs71639057 GRCh37: 1:161274618-161274618
GRCh38: 1:161304828-161304828

UniProtKB/Swiss-Prot genetic disease variations for Roussy-Levy Hereditary Areflexic Dystasia:

73
# Symbol AA change Variation ID SNP ID
1 MPZ p.Asn131Lys VAR_015978 rs121913599

Expression for Roussy-Levy Hereditary Areflexic Dystasia

Search GEO for disease gene expression data for Roussy-Levy Hereditary Areflexic Dystasia.

Pathways for Roussy-Levy Hereditary Areflexic Dystasia

Pathways related to Roussy-Levy Hereditary Areflexic Dystasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 PMP22 MPZ
2 10.4 PMP22 MPZ
3 10.05 PMP22 MPZ

GO Terms for Roussy-Levy Hereditary Areflexic Dystasia

Biological processes related to Roussy-Levy Hereditary Areflexic Dystasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.26 PMP22 MPZ
2 myelination GO:0042552 8.8 PMP22 MPZ

Sources for Roussy-Levy Hereditary Areflexic Dystasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....