Familial dysautonomia (hereditary sensory and autonomic neuropathy, type III)
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A child of Ashkenazi Jewish descent has poor feeding, absent tears, and episodic vomiting with hypertension. He has a smooth tongue. His sister has similar symptoms.
AR; ELP1 (formerly IKBKAP)
- Founder variant in Ashkenazi Jewish population (1:30 carrier frequency)
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Affects both the autonomic and the somatic (sensory) nervous systems
Autonomic nervous system
- Absent overflow tears (alacrima)
- Autonomic crises (vomiting, hypertension, tachycardia)
- Orthostatic hypotension
Somatic nervous system
- Insensitivity to pain
- Decreased deep tendon reflexes
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Other symptoms include:
- Feeding difficulties, aspiration
- Absent fungiform papillae on tongue
- Clinical recognition in an individual of Ashkenazi Jewish ancestry: alacrima, absent fungiform papillae, decreased deep tendon reflexes, and absent axon-flare response to intradermal histamine
- Confirm with targeted molecular testing of ELP1 (formerly IKBKAP); the c.2204+6T>C founder variant accounts for the large majority of alleles, with a second pathogenic variant in compound heterozygotes
- Carrier screening is offered in the Ashkenazi Jewish population (carrier frequency ~1:30)
- Supportive
"FDA = Familial Dysautonomia": The FDA has an Elongated, complex approval process that leaves a "TRAIL of (pharma) Tears."
"TRAIL": Tongue papillae absent, Reflexes absent, absent response to IntradermaL histamine, Tears (absence of)
"Familial DySauTONomia = Smooth TONgue": Absent fungiform papillae cause a smooth tongue.