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Diagnosis of multiple system atrophy.

Jose-Alberto Palma1, Lucy Norcliffe-Kaufmann1, Horacio Kaufmann1

  • 1Department of Neurology, Dysautonomia Center, New York University School of Medicine, NY, USA.

Autonomic Neuroscience : Basic & Clinical
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Summary

Diagnosing Multiple System Atrophy (MSA) is challenging due to symptom overlap with other neurological disorders. This review details current and emerging diagnostic tools to improve accuracy and enable earlier recognition of MSA.

Keywords:
Autonomic testingBiomarkersDiagnosisMultiple system atrophyNeuroimagingOrthostatic hypotension

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Area of Science:

  • Neurology
  • Neurodegenerative Diseases
  • Diagnostic Medicine

Background:

  • Multiple system atrophy (MSA) presents diagnostic challenges, often mimicking other neurological conditions like Parkinson's disease or various ataxias.
  • Early-stage autonomic dysfunction in MSA can be indistinguishable from pure autonomic failure.
  • Misdiagnosis of MSA leads to inappropriate treatments and patient distress.

Purpose of the Study:

  • To review current and emerging diagnostic investigations for Multiple System Atrophy (MSA).
  • To highlight the importance of differential diagnosis in suspected MSA cases.
  • To emphasize the need for improved diagnostic accuracy for timely and appropriate patient management.

Main Methods:

  • Review of existing literature on diagnostic tools for MSA.
  • Summary of currently employed investigations including neuroimaging, autonomic testing, and functional assessments.
  • Discussion of novel biomarkers and genetic testing for future diagnostic applications.

Main Results:

  • Current diagnostic accuracy for MSA remains suboptimal despite available criteria and tools.
  • Established methods like neurological examination, brain imaging, and autonomic testing aid in diagnosis and ruling out mimics.
  • Emerging techniques like skin biopsy, advanced biomarkers, and genetic testing show promise for earlier and more precise MSA detection.

Conclusions:

  • Accurate and timely diagnosis of MSA is crucial to prevent misdiagnosis and ensure appropriate care.
  • A combination of clinical evaluation and ancillary investigations is currently essential.
  • Future advancements in biomarkers and genetic testing are expected to significantly enhance MSA diagnostic capabilities, potentially even in prodromal stages.