A mutation in SCN10A may be associated with a painful neuropathy and severe gastroparesis.
Gene: SCN10A (sodium voltage-gated channel alpha subunit 10)
Chromosome: 3p22.2
Product: Nav1.8 voltage-gated sodium channel, tetrodotoxin-resistant
The channel is found in nocioceptive sensory neurons of the dorsal root ganglion.
Clinical features:
(1) painful small fiber sensory neuropathy
(2) severe progressive gastroparesis
(3) variable, mild autonomic symptoms (dry eye, diarrhea/constipation, orthostatic dizziness)
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Specialty: Gastroenterology
