National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hypertrophic neuropathy of Dejerine-Sottas


Other Names:
Dejerine-Sottas syndrome; DSS; Charcot-Marie-Tooth Disease, type 3; Dejerine-Sottas syndrome; DSS; Charcot-Marie-Tooth Disease, type 3; CMT3; Hereditary motor and sensory neuropathy 3; HMSN3; Dejerine-Sottas neuropathy; DSN; Charcot-Marie-Tooth disease type 3; Hereditary motor and sensory neuropathy type 3; HMSN 3; Hypertrophic neuropathy of infancy; Hereditary motor and sensory neuropathy type III; HMSN III See More
Categories:
This disease is grouped under:
Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body.[1][2][3] Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as type 1 or type 4.[1][2] Dejerine-Sottas syndrome has been associated with mutations in the MPZ, PMP22, EGR2, and PRX genes. Autosomal dominant and autosomal recessive inheritance have been described.[4][5]
Last updated: 8/28/2012

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.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Percent of people who have these symptoms is not available through HPO
Areflexia
Absent tendon reflexes
0001284
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Decreased motor nerve conduction velocity 0003431
Decreased number of peripheral myelinated nerve fibers 0003380
Distal amyotrophy
Distal muscle wasting
0003693
Distal sensory impairment
Decreased sensation in extremities
0002936
Foot dorsiflexor weakness
Foot drop
0009027
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hammertoe
Hammer toe
Hammertoes
[ more ] 		0001765
Hypertrophic nerve changes 0003382
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ] 		0001265
Increased CSF protein 0002922
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Kyphoscoliosis 0002751
Motor delay 0001270
Muscular hypotonia
Low or weak muscle tone
0001252
Onion bulb formation 0003383
Pes cavus
High-arched foot
0001761
Segmental peripheral demyelination/remyelination 0003481
Sensory ataxia 0010871
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] 		0001171
Steppage gait
High stepping
0003376
Ulnar claw 0001178
Variable expressivity 0003828
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Hypertrophic neuropathy of Dejerine-Sottas. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

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

  • Genetics Home Reference (GHR) contains information on Hypertrophic neuropathy of Dejerine-Sottas. This website is maintained by the National Library of Medicine.
  • 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

  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease. Accessed 8/28/2012.
  2. Hypertrophic Neuropathy of Dejerine-Sottas. Online Mendelian Inheritance in Man (OMIM). 2010; http://omim.org/entry/145900. Accessed 8/28/2012.
  3. de Assis Aquino Gondim F, Oliveira G, Thomas FP. Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type. Medscape Reference. 2010; http://emedicine.medscape.com/article/1173484-overview#showall. Accessed 8/28/2012.
  4. Gabreels-Festen A. Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. 2002; http://www.ncbi.nlm.nih.gov/pubmed/12090401. Accessed 8/28/2012.
  5. Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. GeneReviews. 2012; http://www.ncbi.nlm.nih.gov/books/NBK1358/. Accessed 8/28/2012.