Hypertrophic Neuropathy Of Dejerine-sottas

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).

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

And another 32 symptoms. If you need more information about this disease we can help you.

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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
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 %

You can get up to 227 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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