Guillain-barre Syndrome, Familial; Gbs

Description

Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001).Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004).

Clinical Features

Top most frequent phenotypes and symptoms related to Guillain-barre Syndrome, Familial; Gbs

  • Ataxia
  • Ptosis
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia
  • Areflexia
  • Respiratory failure
  • Autoimmunity
  • Ophthalmoplegia
  • Limb muscle weakness

And another 7 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS have a estimated incidence of 1.45 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Guillain-barre Syndrome, Familial; Gbs Is also known as polyneuropathy, inflammatory demyelinating, acute, aidp.

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

Guillain-barre Syndrome, Familial; Gbs 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
8 %
Genes
100 %
CMT Advanced Evaluation - Dominant, Demyelinating.

By Athena Diagnostics Inc (United States).

YARS, LITAF, DNM2, EGR2, MPZ, PMP22
Specificity
17 %
Genes
100 %
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
5 %
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
7 %
Genes
100 %
Complete HNPP Evaluation.

By Athena Diagnostics Inc (United States).

PMP22
Specificity
100 %
Genes
100 %
PMP22 Duplication/Deletion DNA Test.

By Athena Diagnostics Inc (United States).

PMP22
Specificity
100 %
Genes
100 %
PMP22 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

PMP22
Specificity
100 %
Genes
100 %
Entrapment Neuropathy Evaluation.

By Athena Diagnostics Inc (United States).

TTR, PMP22
Specificity
50 %
Genes
100 %

We have 117 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET 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 STEATOCYSTOMA MULTIPLEX OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more