Semin Neurol 2025; 45(01): 088-098
DOI: 10.1055/s-0044-1791520
Review Article

Top 10 Clinical Pearls in Inherited Neuropathies

Authors

  • Ruchee Patel

    1   Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland
  • Bipasha Mukherjee-Clavin

    1   Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland
Preview

Abstract

The inherited neuropathies are a clinically and genetically heterogeneous collection of neuropathies that neurologists, particularly neuromuscular specialists, must be familiar with. They include Charcot–Marie–Tooth disease, which is common yet currently lacks targeted treatment, and hATTRV polyneuropathy, which is rare but has disease-modifying gene therapies. With a focus on emerging new genes and treatments, this article offers a recent update on clinical diagnosis and management of inherited neuropathies.



Publikationsverlauf

Artikel online veröffentlicht:
15. Oktober 2024

© 2024. Thieme. All rights reserved.

Thieme Medical Publishers, Inc.
333 Seventh Avenue, 18th Floor, New York, NY 10001, USA