Hypertrophic neuropathy of Dejerine-Sottas
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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
Dejerine-Sottas syndrome; DSS; Charcot-Marie-Tooth Disease, type 3;
Congenital and Genetic Diseases; Nervous System Diseases
Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas
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||
|5%-29% of people have these symptoms|
Involuntary, rapid, rhythmic eye movements
|Percent of people who have these symptoms is not available through HPO|
Absent tendon reflexes
|Decreased motor nerve conduction velocity||0003431|
|Decreased number of peripheral myelinated nerve fibers||0003380|
Distal muscle wasting
|Distal sensory impairment||
Decreased sensation in extremities
|Foot dorsiflexor weakness||
Decreased muscle tone
Low muscle tone
[ more ]
[ more ]
|Hypertrophic nerve changes||0003382|
Decreased reflex response
[ more ]
Onset in first year of life
Onset in infancy
[ more ]
Low or weak muscle tone
|Onion bulb formation||0003383|
|Segmental peripheral demyelination/remyelination||0003481|
Claw hand deformities
[ more ]
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.
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.
- 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.
- Genetics Home Reference (GHR) contains information on Hypertrophic neuropathy of Dejerine-Sottas. This website is maintained by the National Library of Medicine.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Hypertrophic neuropathy of Dejerine-Sottas. Click on the link to view a sample search on this topic.
- Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). 2010; https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease. Accessed 8/28/2012.
- Hypertrophic Neuropathy of Dejerine-Sottas. Online Mendelian Inheritance in Man (OMIM). 2010; https://omim.org/entry/145900. Accessed 8/28/2012.
- de Assis Aquino Gondim F, Oliveira G, Thomas FP. Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type. Medscape Reference. 2010; https://emedicine.medscape.com/article/1173484-overview#showall. Accessed 8/28/2012.
- Gabreels-Festen A. Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. 2002; https://www.ncbi.nlm.nih.gov/pubmed/12090401. Accessed 8/28/2012.
- Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. GeneReviews. 2012; https://www.ncbi.nlm.nih.gov/books/NBK1358/. Accessed 8/28/2012.