Dysautonomia (Familial)

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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

TREATMENT

  • Recommendation 1

    Diazepam, metoclopramide, and chloral hydrate. Artificial tears may be needed to lubricate the eyes.

PRIMARY CARE

  • Recommendation 1

    Specialist referrals and medication therapy

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

  • Recommendation 1

    Various clinical studies currently recruiting

Sources

No data available

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