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Semin Neurol 2003; 23(4): 381-390
DOI: 10.1055/s-2004-817722
Copyright © 2003 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Inherited Autonomic Neuropathies

Felicia B. Axelrod1 , Max J. Hilz2,3
  • 1Carl Seaman Family Professor for Dysautonomia Treatment and Research, Pediatrics
  • 2Professor, Department of Neurology, New York University School of Medicine, New York, New York
  • 3University of Erlangen-Nuremberg, Erlangen, Germany
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Publikationsdatum:
15. April 2004 (online)

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ABSTRACT

Inherited autonomic neuropathies are a rare group of disorders associated with sensory dysfunction. As a group they are termed the “hereditary sensory and autonomic neuropathies” (HSAN). Classification of the various autonomic and sensory disorders is ongoing. In addition to the numerical classification of four distinct forms proposed by Dyck and Ohta (1975), additional entities have been described. The best known and most intensively studied of the HSANs are familial dysautonomia (Riley-Day syndrome or HSAN type III) and congenital insensitivity to pain with anhidrosis (HSAN type IV). Diagnosis of the HSANs depends primarily on clinical examinations and specific sensory and autonomic assessments. Pathologic examinations are helpful in confirming the diagnosis and in differentiating between the different disorders. In recent years identification of specific genetic mutations for some disorders has aided diagnosis. Replacement or definitive therapies are not available for any of the disorders so that treatment remains supportive and directed toward specific symptoms.

KEYWORDS

Hereditary sensory and autonomic neuropathies (HSAN) - familial dysautonomia (FD) - congenital insensitivity to pain with anhidrosis (CIPA or HSAN type IV)

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