Inherited Peripheral Neuropathies

Abstract

Inherited peripheral neuropathies are a diverse group of genetic disorders marked by progressive degeneration of peripheral motor, sensory, and autonomic nerves. While next-generation sequencing has improved diagnosis, challenges remain, including resolving variants of uncertain significance and addressing 20% to 50% of inherited neuropathy cases without clear diagnoses. Current care for inherited neuropathies focuses on supportive therapies to preserve functional range of motion, strength, and balance. Research into disease-modifying treatments is advancing, but accelerating progress requires continued biomarker discovery and innovative drug delivery strategies. This article highlights the clinical features, diagnostic approaches, treatment options, and emerging research in the field.

Keywords: Charcot-Marie-Tooth disease; Distal hereditary motor neuropathy; Genetic mutation; Hereditary motor and sensory neuropathy; Hereditary sensory neuropathy; Inherited peripheral neuropathy; Neuromuscular disorder; Precision medicine.