Multiple System Atrophy, Cerebellar Type

Description

Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple System Atrophy, Cerebellar Type

  • Dysarthria
  • Depressivity
  • Constipation
  • Gait ataxia
  • Rigidity
  • Anxiety
  • Abnormal pyramidal sign
  • Postural instability
  • Parkinsonism
  • Progressive cerebellar ataxia

And another 25 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

Multiple System Atrophy, Cerebellar Type Is also known as sporadic olivopontocerebellar atrophy type 1, msa, cerebellar type, sporadic opca type 1, msa-c.

Researches and researchers

Doctors, researchs, and experts related to Multiple System Atrophy, Cerebellar Type extracted from public data.

Multiple System Atrophy, Cerebellar Type Experts map



Current Researchs and researchers

  • BONN — Pr Thomas KLOCKGETHER

    Clinical expert - Investigator of research project - Manager of registry - Contact person of registry - Manager of biobank/collection - Coordinator of research network

    • Institution/s:
      — Universitätsklinikum Bonn
      — Universitätsklinikum Bonn
    • Research area/topic::

      SPORTAX : Sporadic degenerative ataxia with adult onset: Natural history study



Mendelian

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Multiple System Atrophy, Cerebellar Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
COQ2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

COQ2
Specificity
100 %
Genes
100 %
COQ2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

COQ2
Specificity
100 %
Genes
100 %
COQ2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

COQ2
Specificity
100 %
Genes
100 %
COQ2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

COQ2
Specificity
100 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %
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
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TWNK, TIMM8A , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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