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 language | English |
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Pages (from-to) | 9-24 |
Number of pages | 16 |
Journal | Movement Disorders Clinical Practice |
Issue number | 1 |
Early online date | 3-Nov-2020 |
DOIs | |
Publication status | Published - 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