Hereditary sodium channelopathy-related small fibers neuropathy

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A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness palpitations dry eyes and mouth) abnormal quantitative sensory testing and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength tendon reflexes and vibration sense) and nerve conduction studies are typically normal.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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