This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Diagnostic Distinction From Familial Dysautonomia

Felicia B. Axelrod, MD; John Pearson, MD

Am J Dis Child. 1984;138(10):947-954.

Abstract
• Among congenital sensory neuropathies there are several variants that share features of diminished pain sensitivity and/or autonomic dysfunction with familial dysautonomia but can be shown to be distinct from this entity by clinical and pathologic criteria. Recognition of the unique nature of each disease type is an essential prerequisite for genetic and causative studies. We reviewed the diagnostic tests that can be used in the clinical evaluation of sensory and autonomic function. Based on this process of evaluation, we studied 13 patients who were initially considered to have familial dysautonomia but who were later shown to have five distinct syndromes that were confirmed by neuropathologic studies.

(AJDC 1984;138:947-954)

Author Affiliations
From the Departments of Pediatrics (Dr Axelrod) and Pathology (Dr Pearson), New York University Medical Center, New York.

Footnotes
Reprint requests to Department of Pediatrics, New York University Medical Center, 530 First Ave, New York, NY 10016 (Dr Axelrod).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Sympathetic and parasympathetic baroreflex dysfunction in familial dysautonomia
Stemper et al.
Neurology 2004;63:1427-1431.
ABSTRACT | FULL TEXT  

Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervation
Hilz et al.
Brain 2004;127:2090-2098.
ABSTRACT | FULL TEXT  

Sudomotor function in familial dysautonomia
Bickel et al.
J. Neurol. Neurosurg. Psychiatry 2004;75:275-279.
ABSTRACT | FULL TEXT  

Novel Pathogenic Mechanisms of Congenital Insensitivity to Pain with Anhidrosis Genetic Disorder Unveiled by Functional Analysis of Neurotrophic Tyrosine Receptor Kinase Type 1/Nerve Growth Factor Receptor Mutations
Miranda et al.
J. Biol. Chem. 2002;277:6455-6462.
ABSTRACT | FULL TEXT  

Orthopaedic Manifestations of Familial Dysautonomia : A Review of One Hundred and Thirty-six Patients
Bar-On et al.
JBJS 2000;82:1563-1563.
ABSTRACT | FULL TEXT  

Cold face test demonstrates parasympathetic cardiac dysfunction in familial dysautonomia
Hilz et al.
Am. J. Physiol. Regul. Integr. Comp. Physiol. 1999;276:R1833-R1839.
ABSTRACT | FULL TEXT  

Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV
Hilz et al.
Neurology 1999;52:1652-1652.
ABSTRACT | FULL TEXT  

Central Apnea in a Child With Congenital Autonomic Dysfunction and Universal Pain Loss
Hansen et al.
J Child Neurol 1996;11:162-164.
 

Unique Hereditary Serisory and Autonomic Neuropathy With Growth Hormone Deficiency
Liberfarb et al.
J Child Neurol 1993;8:271-276.
ABSTRACT