Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

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

SUBMITTER: Rossi M 

PROVIDER: S-EPMC7780951 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature