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Genetic diseases mimicking multiple sclerosis

Chueh Lin Hsu1, Piotr Iwanowski1, Chueh Hsuan Hsu2

  • 1Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.

Postgraduate Medicine
|June 21, 2021
PubMed

Insights

Genetic diseases like CADASIL and leukodystrophies can mimic multiple sclerosis (MS), leading to misdiagnosis. Early identification of these MS mimics is crucial to prevent severe neurological complications in patients.

Area of Science:

  • Neuroimmunology
  • Neurogenetics
  • Neurology

Background:

  • Multiple sclerosis (MS) is an inflammatory neurodegenerative disease characterized by progressive neurological dysfunction.
  • Relapsing-remitting disease courses are common in MS patients.
  • Overlapping clinical and radiological features can lead to misdiagnosis of MS.

Purpose of the Study:

  • To discuss genetic diseases that mimic multiple sclerosis (MS).
  • To highlight clinical identification strategies for MS mimics.
  • To provide practicing pearls for physicians to recognize genetically based MS mimics.

Main Methods:

  • Review of clinical and radiological features of MS.
  • Analysis of genetic diseases with overlapping presentations with MS, such as CADASIL and leukodystrophies.
  • Discussion of diagnostic challenges and potential pitfalls.

Main Results:

  • Genetic disorders can present with symptoms similar to MS.
  • Delayed diagnosis of these genetic mimics can result in significant neurological sequelae.
  • Specific clinical and genetic markers can aid in differentiating MS from its mimics.

Conclusions:

  • Genetic diseases pose a diagnostic challenge in neurology due to their mimicry of MS.
  • Awareness and targeted diagnostic approaches are essential for accurate identification of MS mimics.
  • Timely diagnosis of genetic mimics can improve patient outcomes and prevent complications.
Keywords:
Genetic diseasesleukodystrophiesmitochondrial dysfunctionsmultiple sclerosismultiple sclerosis- mimicsneurodegenerative disorders

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