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Updated: Jun 15, 2026

Using Unidirectional Rotations to Improve Vestibular System Asymmetry in Patients with Vestibular Dysfunction
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Re-evaluation of the dysequilibrium syndrome.

A Melberg1, H Orlén, R Raininko

  • 1Department of Neuroscience, Unit of Neurology, Uppsala University, Uppsala, Sweden.

Acta Neurologica Scandinavica
|March 5, 2010
PubMed
Summary
This summary is machine-generated.

Dysequilibrium syndrome (DES) in adults, initially diagnosed in childhood, shows varied clinical and MRI features, often differing from VLDLR gene mutations. Accurate diagnosis requires modern neuroimaging and genetic testing.

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Dysequilibrium syndrome (DES) is a rare neurological disorder.
  • Historically diagnosed based on clinical symptoms.
  • Advancements in neuroimaging and genetic testing necessitate re-evaluation.

Purpose of the Study:

  • To re-evaluate middle-aged Swedish patients diagnosed with DES in childhood.
  • To compare clinical and neuroimaging findings with DES associated with VLDLR gene mutations (DES-VLDLR).

Main Methods:

  • Neurological examination and brain MRI were performed on six patients from five families.
  • Serum carbohydrate-deficient transferrin (s-CDT) screening was conducted.
  • VLDLR gene sequencing was performed.

Main Results:

  • Five patients presented with non-progressive cerebellar ataxia, dysarthria, and short stature.
  • Features characteristic of DES-VLDLR, such as mental retardation and strabismus, were inconsistent.
  • No VLDLR mutations were found; MRI findings were variable, with one patient diagnosed with CDG-1a.

Conclusions:

  • Clinical diagnosis of DES predates advanced neuroimaging and genetic analysis.
  • Modern MRI and genetic testing are crucial for accurate DES diagnosis.
  • Re-evaluation highlights the heterogeneity of DES and the importance of differential diagnosis.