Myoclonus-Ataxia Syndromes: A Diagnostic Approach

Malco Rossi*, Sterre Veen, van der, Marcelo Merello, Marina. A. J. de Koning-Tijssen, Bart van de Warrenburg

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

4 Citations (Scopus)
4 Downloads (Pure)

Abstract

Background: A myriad of disorders combine myoclonus and ataxia. Most causes are genetic and an increasing number of genes are being associated with myoclonus-ataxia syndromes (MAS), due to recent advances in genetic techniques. A proper etiologic diagnosis of MAS is clinically relevant, given the consequences for genetic counseling, treatment, and prognosis.

Objectives: To review the causes of MAS and to propose a diagnostic algorithm.

Methods: A comprehensive and structured literature search following PRISMA criteria was conducted to identify those disorders that may combine myoclonus with ataxia.

Results: A total of 135 causes of combined myoclonus and ataxia were identified, of which 30 were charted as the main causes of MAS. These include four acquired entities: opsoclonus-myoclonus-ataxia syndrome, celiac disease, multiple system atrophy, and sporadic prion diseases. The distinction between progressive myoclonus epilepsy and progressive myoclonus ataxia poses one of the main diagnostic dilemmas.

Conclusions: Diagnostic algorithms for pediatric and adult patients, based on clinical manifestations including epilepsy, are proposed to guide the differential diagnosis and corresponding work-up of the most important and frequent causes of MAS. A list of genes associated with MAS to guide genetic testing strategies is provided. Priority should be given to diagnose or exclude acquired or treatable disorders.

Original languageEnglish
Pages (from-to)9-24
Number of pages16
JournalMovement Disorders Clinical Practice
Issue number1
Early online date3-Nov-2020
DOIs
Publication statusPublished - Jan-2021

Keywords

  • genetics
  • myoclonus
  • ataxia
  • movement disorders
  • diagnosis
  • NEURONAL CEROID-LIPOFUSCINOSIS
  • CREUTZFELDT-JAKOB-DISEASE
  • UNVERRICHT-LUNDBORG-DISEASE
  • GENOTYPE-PHENOTYPE CORRELATIONS
  • MULTIPLE SYSTEM ATROPHY
  • DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY
  • STRAUSSLER-SCHEINKER SYNDROME
  • FATAL FAMILIAL INSOMNIA
  • RAGGED-RED FIBERS
  • TERM-FOLLOW-UP

Cite this