Inherited neuropathies, such as giant axonal neuropathy (GAN), Charcot-Marie-Tooth disease (CMT), and hereditary transthyretin amyloidosis (ATTRv), are key causes of peripheral neuropathy. GAN results from autosomal recessive alterations in the GAN gene, leading to nerve cell damage and giant axons. Symptoms, appearing in childhood, progress to motor milestone loss, muscle weakness, ataxia, and respiratory failure by the third decade. Diagnosis involves genetic testing, nerve conduction studies, and biopsies. While there are no specific therapies, gene therapy is being explored.

CMT, caused by genetic variations affecting peripheral nerve function, manifests as slowly progressive muscle weakness and sensory loss, starting in the distal extremities. Diagnosis depends on family history, nerve conduction studies, and genetic testing. Management is mainly supportive, with research ongoing into targeted treatments like gene therapy. ATTRv involves amyloid fibril deposition in tissues, causing cardiomyopathy and peripheral neuropathy. Diagnosis relies on genetic testing and biopsies, with treatment options including protein stabilizers and gene silencers. Early diagnosis and targeted treatments are crucial for improving outcomes in these inherited neuropathies.

Reference: Qarni T, Karam C. Inherited Neuropathies: Giant Axonal Neuropathy, Charcot-Marie-Tooth Disease, and Hereditary Transthyretin Amyloidosis. Practical Neurology. Accessed May 21, 2024. https://practicalneurology.com/articles/2023-aug/inherited-neuropathies-giant-axonal-neuropathy-charcot-marie-tooth-disease-and-hereditary-transthyretin-amyloidosis?c4src=topic:feed