Current treatments in familial dysautonomia.

ABSTRACT:

Introduction

Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (type III). The disease is caused by a point mutation in the IKBKAP gene that affects the splicing of the elongator-1 protein (ELP-1) (also known as IKAP). Patients have dramatic blood pressure instability due to baroreflex failure, chronic kidney disease, and impaired swallowing leading to recurrent aspiration pneumonia, which results in chronic lung disease. Diminished pain and temperature perception result in neuropathic joints and thermal injuries. Impaired proprioception leads to gait ataxia. Optic neuropathy and corneal opacities lead to progressive visual loss.

Areas covered

This article reviews current therapeutic strategies for the symptomatic treatment of FD, as well as th

SUBMITTER: Palma JA 

PROVIDER: S-EPMC4236240 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature