Hypertrophic Neuropathy Of Dejerine-sottas

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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).

Genes related to Hypertrophic Neuropathy Of Dejerine-sottas

PMP22
MPZ
EGR2
PRX

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Clinical Features

Top most frequent phenotypes and symptoms related to Hypertrophic Neuropathy Of Dejerine-sottas

Generalized hypotonia
Scoliosis
Ataxia
Nystagmus
Muscle weakness
Muscular hypotonia
Motor delay
Peripheral neuropathy
Skeletal muscle atrophy
Gait disturbance

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Hypertrophic Neuropathy Of Dejerine-sottas Is also known as hereditary motor and sensory neuropathy type iii, dsn, hmsn3, dss, dejerine-sottas syndrome, cmt3, charcot-marie-tooth disease, type 3, dejerine-sottas neuropathy.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hypertrophic Neuropathy Of Dejerine-sottas Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant. By Athena Diagnostics Inc (United States). YARS, LITAF, MFN2, TRPV4, DNM2, HSPB8, EGR2, GARS, HSPB1, MPZ, NEFL, PMP22, RAB7A Specificity 24 % Genes 75 %
CMT Advanced Evaluation - Dominant, Demyelinating. By Athena Diagnostics Inc (United States). YARS, LITAF, DNM2, EGR2, MPZ, PMP22 Specificity 50 % Genes 75 %
CMT Advanced Evaluation - Comprehensive. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...) View the complete list with 3 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, RAB7A Specificity 18 % Genes 100 %
CMT Advanced Evaluation - Demyelinating. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MPZ, MTMR2, NDRG1, PMP22 Specificity 27 % Genes 100 %
Complete HNPP Evaluation. By Athena Diagnostics Inc (United States). PMP22 Specificity 100 % Genes 25 %
PMP22 Duplication/Deletion DNA Test. By Athena Diagnostics Inc (United States). PMP22 Specificity 100 % Genes 25 %
PMP22 DNA Sequencing Test. By Athena Diagnostics Inc (United States). PMP22 Specificity 100 % Genes 25 %
Entrapment Neuropathy Evaluation. By Athena Diagnostics Inc (United States). TTR, PMP22 Specificity 50 % Genes 25 %

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Sources and references

You can check the following sources for additional information.

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