Laboratory Studies

DNA diagnosis is now available, and documentation of the IKBKAP mutation is the criterion standard to confirm the diagnosis. However, in a patient in whom this diagnosis is suspected, a tentative diagnosis can be made using a constellation of clinical criteria. Traditionally, 5 cardinal criteria should be present for a firm diagnosis.

Parents of Ashkenazi Jewish ancestry: Both parents should have a history of being of Eastern European extraction.

Absence of fungiform papillae on the tongue: The highly vascularized fungiform papillae on the anterior third of the tongue are absent resulting in a smooth and glistening tongue tip. See following image.

Absence of fungiform papillae on the tongue. The highly vascularized fungiform papillae on the anterior third of the tongue are absent resulting in a smooth and glistening tongue tip.

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Decreased deep tendon reflexes: In 95% of patients with familial dysautonomia (FD), knee jerks cannot be elicited.

Lack of axon flare following intradermal histamine: Histamine phosphate in a 1:10,000 dilution injected intradermally does not produce pain or an axon flare. See following image.

Lack of axon flare following intradermal histamine. Histamine phosphate in a 1:10,000 dilution injected intradermally does not produce pain or an axon flare.

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No overflow tears with emotional crying: Normally overflow emotional tearing can be delayed until age 7 months, but Schirmer tear testing usually shows diminished baseline tear flow.

Treatment & Management

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Media Gallery

Absence of fungiform papillae on the tongue. The highly vascularized fungiform papillae on the anterior third of the tongue are absent resulting in a smooth and glistening tongue tip.
Lack of axon flare following intradermal histamine. Histamine phosphate in a 1:10,000 dilution injected intradermally does not produce pain or an axon flare.
Erosion and scarring of the inferior cornea due to incomplete lid closure during sleep.
Neurotrophic corneal ulcer.
Corneal stromal opacification.
Bipedicle tarsorrhaphy.

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Author

Robert A D'Amico, MD, FACS Chairman, Department of Ophthalmology, Richmond University Medical Center; Clinical Professor, Department of Ophthalmology, New York University School of Medicine

Robert A D'Amico, MD, FACS is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, American Medical Association, Association for Research in Vision and Ophthalmology, Association of University Professors of Ophthalmology, Cornea Society, International Society for Genetic Eye Diseases and Retinoblastoma, Medical Society of the State of New York, New York Academy of Medicine, Transplantation Society, Xenotransplantation Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, American Glaucoma Society

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy, Sr, MD † Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Andrew W Lawton, MD Neuro-Ophthalmology, Ochsner Health Services

Andrew W Lawton, MD is a member of the following medical societies: American Academy of Ophthalmology, Arkansas Medical Society, Southern Medical Association

Disclosure: Nothing to disclose.

Felicia B Axelrod, MD Director of Dysautonomia Treatment and Evaluation Center, Carl Seaman Family Professor for Dysautonomia Treatment and Research, Professor, Departments of Pediatrics and Neurology, New York University School of Medicine

Felicia B Axelrod, MD is a member of the following medical societies: American Academy of Pediatrics, American Autonomic Society, American Medical Association, American Pediatric Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Sections Familial Dysautonomia
Overview
Presentation
- History
- Physical
- Causes
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DDx
Workup
Treatment
Medication
Media Gallery
References

Familial Dysautonomia Workup

Laboratory Studies

References

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