Rare Nephrology 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.

Unknown

Age of onset

Childhood

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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 peripheral neuropathy
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
Scoliosis
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
Autosomal recessive inheritance
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

    Organizations Providing General Support

      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.