| Literature DB >> 33638050 |
Natalie Witek1, Jacob Hawkins2, Deborah Hall2.
Abstract
Ataxia encompasses a large group of rare disorders characterized by irregular movements, decreased coordination, imbalance, kinetic tremor, wide-based stance, and dysarthria. Evaluating ataxia can be challenging considering the volume of disorders and their complex pathologies involving diverse genetic and clinical factors. This is a comprehensive review of the genetic ataxia literature, presenting updated guidelines for differential diagnosis. Age, time course, and family history provide initial guidance for evaluation of ataxia. As genetic testing is increasingly utilized, new genes are discovered and phenotypes for existing disorders are expanded. This review assists physicians by offering a diagnostic roadmap for suspected hereditary ataxia based on the current literature.Entities:
Keywords: Ataxia; Autosomal dominant ataxia; Autosomal recessive ataxia; Hereditary ataxia; Sporadic ataxia
Year: 2021 PMID: 33638050 DOI: 10.1007/s11910-021-01092-4
Source DB: PubMed Journal: Curr Neurol Neurosci Rep ISSN: 1528-4042 Impact factor: 5.081