Episode 299 – Neurology VMR – Clumsiness
The Clinical Problem Solvers
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Diagnosing Spinocerebellar Ataxia: Challenges and Variability
This chapter explores the challenges in diagnosing different types of Spino-Cerebellar Ataxias (SDAs) and highlights the importance of considering phenotypic variability. It emphasizes the potential symptoms and complications associated with reduced muscle bulk and weakness in patients with SDAs, as well as the pitfalls of whole exome sequencing.
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