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GTR Home > Conditions/Phenotypes > Dejerine-Sottas disease

Dejerine-Sottas disease

Synonyms
Charcot-Marie-Tooth disease type 3; Dejerine-Sottas neuropathy; HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN Type III; Hereditary motor and sensory neuropathy 3; Hypertrophic neuropathy of Dejerine-Sottas
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011). [from OMIM]

Available tests

90 tests are in the database for this condition.

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Clinical tests (90 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AT591, CMT1D, CMT4E, KROX20, EGR2
    Summary: early growth response 2

  • Also known as: CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0, MPZ
    Summary: myelin protein zero

  • Also known as: CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110, PMP22
    Summary: peripheral myelin protein 22

  • Also known as: CMT4F, PRX
    Summary: periaxin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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