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Disease found:Dysautonomia (Familial)
Current as of:October 8, 2024
Disease Overview:A rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. [more info]
Signs and Symptoms:Decreased sucking ability, impaired swallowing reflexes, hypotonia, lack of tears, and/or abnormally low body temperature [more info]
Diagnosis:Suggestive findings and biallelic pathogenic variants in ELP1 (formerly IKBKAP) identified by molecular genetic testing [more info]
Treatment:Diazepam, metoclopramide, and chloral hydrate. Artificial tears may be needed to lubricate the eyes. [more info]
Clinical Management:Specialist referrals and medication therapy [more info]
Referral: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:Various clinical studies currently recruiting

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