High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

ABSTRACT:

Background

As advanced molecular testing is incorporated into routine clinical practice, accessibility and yield remain limited.

Objectives

We propose a simplified and effective workup strategy to maximize diagnostic yield based on presented diagnostic yield of rare movement disorders at a tertiary Neurogenetics Clinic.

Methods

Retrospective analysis (2019-2023) of 190 patients aged 2-87 years, diagnosed with cerebellar ataxia (CA, n = 91), hereditary spastic paraparesis (HSP, n = 51), or dystonia and paroxysmal dyskinesia movement disorders (DPD, n = 48). Workup included next-generation sequencing (NGS) and repeat expansion testing. Undiagnosed cases underwent exome or genome sequencing (ES/GS).

Results

Among 190 patients, 38 had a prior genetic diagnosis, and

SUBMITTER: Penn D 

PROVIDER: S-EPMC12625155 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature