Primary care
Recommendation 1
Specialist referrals and medication therapy
Dysautonomia (Familial)
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
A rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage.
Common symptoms
Decreased sucking abilityimpaired swallowing reflexeshypotonialack of tearsand/or abnormally low body temperature
When to suspect
Recommendation 1
Suggestive findings and biallelic pathogenic variants in ELP1 (formerly IKBKAP) identified by molecular genetic testing
How to test
Recommendation 1
Suggestive findings and biallelic pathogenic variants in ELP1 (formerly IKBKAP) identified by molecular genetic testing
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Diazepam, metoclopramide, and chloral hydrate. Artificial tears may be needed to lubricate the eyes.
Further support
Recommendation 1
No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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