Neuromyelitis Optica

Description

Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.

Clinical Features

Top most frequent phenotypes and symptoms related to Neuromyelitis Optica

  • Pain
  • Respiratory insufficiency
  • Vomiting
  • Visual loss
  • Respiratory failure
  • Paralysis
  • Autoimmunity
  • Paraplegia
  • Nausea
  • Sensory impairment

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Neuromyelitis Optica have a estimated prevalence of 1.5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Neuromyelitis Optica Is also known as devic disease.

Researches and researchers

Doctors, researchs, and experts related to Neuromyelitis Optica extracted from public data.

Neuromyelitis Optica Experts map



Current Researchs and researchers

  • WIEN — Pr Monika BRADL

    Investigator of research project

    • Institution/s:
      — Medizinische Universität Wien
    • Research area/topic::

      Type I Interferons and anti-DNA Antibodies in Neuromyelitis Optica


  • BRON — Dr Romain MARIGNIER

    Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Manager of registry - Manager of biobank/collection - Coordinator of research network - Coordinator of biobank network

    • Institution/s:
      — Hôpital Neurologique Pierre Wertheimer, CHU de Lyon HCL - GH Est
      — Hôpital Pierre Wertheimer, CHU de Lyon HCL - GH Est
      — Centre de Recherche en Neurosciences de Lyon - Inserm U1028 - CNRS UMR5292 - UCBLyon1, CHU de Lyon HCL - GH Est-Hôpital Neurologique P. Wertheimer
    • Research area/topic::

      EDEN: Eugène Devic European Network: establishment and use of an European database and biological bank for research and treatment in acute neuromyelitis optica and related disorders


  • SEVILLA — Dr María DÍAZ SÁNCHEZ

    Investigator of research project

    • Institution/s:
      — Programa de Neurociencias, IBIS - Instituto de Biomedicina de Sevilla
    • Research area/topic::

      Development of a method for the diagnosis and monitoring of Optic Neuromyelitis (NMO)



Mendelian

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Neuromyelitis Optica Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
34 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc (United States).

SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.

By Athena Diagnostics Inc (United States).

SLC35A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, CDKL5, SYN1, SYP, CACNA2D1, PCDH19, ARHGEF9, DEAF1, CASK, ALG9, RAB39B, BCKDK, ARX, SPATA5 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
34 %
GFAP (Alexander Disease) Sequencing Test.

By Athena Diagnostics Inc (United States).

GFAP
Specificity
100 %
Genes
34 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
34 %
Alexander disease.

By Human Genetics University Hospital Bern (Switzerland).

GFAP
Specificity
100 %
Genes
34 %
GFAP Gene Sequencing.

By GeneDx (United States).

GFAP
Specificity
100 %
Genes
34 %
Alexander Disease.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).

GFAP
Specificity
100 %
Genes
34 %

We have 53 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET Rare Disease Symptoms Checker

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