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.

Click here to know more about Mendelian.

Incidence and onset information

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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 %

We have 227 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VON WILLEBRAND DISEASE, TYPE 2; VWD2 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO MICROCEPHALY-MICROMELIA SYNDROME; MIMIS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more