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Disease Profile

Hypertrophic neuropathy of Dejerine-Sottas

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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.

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)

Dejerine-Sottas syndrome; DSS; Charcot-Marie-Tooth Disease, type 3;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

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]

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
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

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

        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.

          References

          1. Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). 2010; https://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; https://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; https://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; https://www.ncbi.nlm.nih.gov/pubmed/12090401. Accessed 8/28/2012.
          5. Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. GeneReviews. 2012; https://www.ncbi.nlm.nih.gov/books/NBK1358/. Accessed 8/28/2012.