familial dysautonomia; Riley-Day syndrome; hereditary sensory & autonomic neuropathy III
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Epidemiology
- primarily confined to individuals of Ashkenazi Jewish descent
- incidence of 1/3600 live births (Ashkenazi Jews)
Pathology
- progressive degeneration of the sensory, sympathetic & parasympathetic neurons
- congenital sensory neuropathy
- variable autonomic dysfunction
Genetics
- autosomal recessive
- associated with defects in IKBKAP (IKAP)
Clinical manifestations
- poor development & survival
- decreased sensitivity to pain & temperature
- cardiovascular instability
- recurrent pneumonia
- vomiting crises
- gastrointestinal dysfunction
Laboratory
- IKBKAP genotyping (blood)[2]
- see ARUP consult[2]
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/223900
- ↑ 2.0 2.1 2.2 ARUP Consult: Jewish Genetic Disease The Physician's Guide to Laboratory Test Selection & Interpretation
Ashkenazi Jewish Genetic Diseases Carrier Screening Algorithm https://arupconsult.com/algorithm/jewish-genetic-diseases-carrier-screening-algorithm
Ashkenazi Jewish Genetic Diseases Panel https://arupconsult.com/ati/ashkenazi-jewish-genetic-diseases-panel - ↑ Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III) http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002363/
- ↑ Familial Dysautonomia (FD) http://www.familialdysautonomia.org/
Patient information
familial dysautonomia patient information