Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy.

ABSTRACT:

Background

Hereditary polyneuropathy is a disabling condition with a genetic aetiology. However, genetic confirmation is not always attainable. This study aimed to assess the diagnostic clarification rate achieved through reassessment, including whole genome sequencing (WGS), in patients without confirmed genetic diagnoses.

Methods

We conducted a cross-sectional study using diagnosis codes to identify patients with hereditary polyneuropathy at a specialized neuromuscular center. Clinically diagnosed patients without genetic confirmation were invited to participate. They underwent neurological examination, composite scoring, extensive blood testing, and WGS. Based on the reassessment, patients were stratified into three groups: (1) genetic findings, (2) non-genetic aetiologie

SUBMITTER: Kodal LS 

PROVIDER: S-EPMC12319232 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature