Rare Pediatrics News
Disease Profile
Neuropathy, hereditary motor and sensory, Russe type
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
G60.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Hereditary motor and sensory neuropathy, Russe type; HMSNR; Charcot-Marie-Tooth disease, type 4g;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 99953
Definition
Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.
Visit the Orphanet disease page for more resources.
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Areflexia |
Absent tendon reflexes
|
0001284 |
| Decreased distal sensory nerve action potential | 0007230 | |
| Decreased motor nerve conduction velocity | 0003431 | |
| Demyelinating |
0007108 | |
| Distal lower limb muscle weakness | 0009053 | |
| Distal sensory impairment |
Decreased sensation in extremities
|
0002936 |
| Distal sensory loss of all modalities | 0006984 | |
| Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ] |
0002495 |
| Motor conduction block | 0012078 | |
| Peripheral axonal neuropathy | 0003477 | |
| Peripheral demyelination | 0011096 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of the hand |
Abnormal hands
Hand anomalies
Hand deformities
[ more ] |
0001155 |
| Difficulty walking |
Difficulty in walking
|
0002355 |
| Distal amyotrophy |
Distal muscle wasting
|
0003693 |
| Distal upper limb muscle weakness | 0008959 | |
| Impaired tactile sensation |
Impaired touch sensation
|
0010830 |
| Lower limb amyotrophy | 0007210 | |
| Pes cavus |
High-arched foot
|
0001761 |
| Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
| Upper limb amyotrophy | 0009129 | |
| 5%-29% of people have these symptoms | ||
| Gait imbalance |
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk
[ more ] |
0002141 |
| Impaired pain sensation |
Decreased pain sensation
|
0007328 |
| Pes valgus | 0008081 | |
| Progressive inability to walk | 0002505 | |
| 0002650 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal foot morphology |
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity
[ more ] |
0001760 |
| 0000007 | ||
| Axonal regeneration | 0003450 | |
| Decreased number of large peripheral myelinated nerve fibers | 0003387 | |
| Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
| Paralysis |
Inability to move
|
0003470 |
| Peripheral hypomyelination | 0007182 | |
| Peripheral neuropathy | 0009830 | |
| Progressive |
Worsens with time
|
0003676 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Charcot-Marie-Tooth Association
PO Box 105
Glenolden, PA 19036
Toll-free: 1-800-606-2682
Telephone: +1-610-499-9264
Fax: +1-610-499-9267
E-mail: info@cmtusa.org
Website: https://www.cmtausa.org/ -
Charcot-Marie-Tooth Association Australia Inc.
Building 22
Concord Hospital
Concord, NSW, 2139 Australia
Telephone: (02) 9767 5105
E-mail: cmtaa2@cmt.org.au
Website: https://www.cmt.org.au -
Charcot-Marie-Tooth UK (CMT UK)
3 Groveley Road
Christchurch, Dorset BH23 3HB
United Kingdom
Telephone: 0300 323 6316
E-mail: enquiries@cmt.org.uk
Website: https://www.cmt.org.uk/ -
CMT Research Foundation
4062 Peachtree Road
Suite A209
Atlanta, GA 30319
Telephone: (404) 806-7180
E-mail: info@cmtrf.org
Website: https://cmtrf.org/ -
Hereditary Neuropathy Foundation Inc.
401 Park Avenue, 10th Floor
New York, NY 10016
Toll-free: 1-855-435-7268
Telephone: +1-212-722-8396
Fax: +1-917-591-2758
E-mail: info@hnf-cure.org
Website: https://www.hnf-cure.org/
Organizations Providing General Support
-
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: resourcecenter@mdausa.org
Website: https://www.mda.org -
Muscular Dystrophy UK
61A Great Suffolk Street
London, SE1 0BU United Kingdom
Toll-free: 0800 652 6352 (Helpline)
Telephone: (+44) 0 020 7803 4800
E-mail: info@musculardystrophyuk.org
Website: https://www.musculardystrophyuk.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The Muscular Dystrophy Association has developed an information page entitled "Surgery Sometimes, Bracing Often, Caution Always: Caring for the CMT-affected Foot." Click on Muscular Dystrophy Association to view this information page.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Neuropathy, hereditary motor and sensory, Russe type. Click on the link to view a sample search on this topic.