Multiple System Atrophy 1, Susceptibility To; Msa1

Description

Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions (GCIs) that consist of abnormally phosphorylated alpha-synuclein (SNCA ) or tau (MAPT ) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013).MSA is similar clinically and pathologically to Parkinson disease (PD ) and Lewy body dementia (OMIM ). See also PARK1 (OMIM ), which is specifically caused by mutation in the SNCA gene.Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996).

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple System Atrophy 1, Susceptibility To; Msa1

  • Ataxia
  • Ptosis
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Tremor
  • Cerebellar atrophy
  • Babinski sign
  • Constipation

And another 52 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 MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 have a estimated incidence of 1.8 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Multiple System Atrophy 1, Susceptibility To; Msa1 Is also known as msa1, susceptibility to.

Researches and researchers

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Multiple System Atrophy 1, Susceptibility To; Msa1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 , (...)

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Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Search Engine

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