Open AccessFrequency and burden of gastrointestinal symptoms in familial dysautonomia
Author(s) -
Chethan Ramprasad,
Horacio Kaufmann,
JoseAlberto Palma,
Joseph Levy,
Yian Zhang,
Christy Spalink,
Aneal Khan,
Scott Smukalla,
Horacio Kaufmann,
Lea Ann Chen
Publication year - 2020
Publication title -
clinical autonomic research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.245
H-Index - 58
eISSN - 1619-1560
pISSN - 0959-9851
DOI - 10.1007/s10286-020-00735-9
Subject(s) - medicine , familial dysautonomia , dysautonomia , gastrointestinal function , irritable bowel syndrome , abdominal pain , population , physical therapy , pediatrics , disease , environmental health
Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (HSAN-3) that is clinically characterized by impaired pain and temperature perception and abnormal autonomic function. Patients with FD have gastrointestinal dysmotility and report a range of gastrointestinal symptoms that have yet to be systematically evaluated. The aim of this study was to establish the frequency and severity of gastrointestinal symptoms in patients with FD.