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Hereditary Sensory and Autonomic Neuropathy Type IV

Abstract

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NORD is very grateful to Ingo Kurth, MD, Institute for Human Genetics, University Hospital Jena, Germany, for assistance in the preparation of this report.

Synonyms of Hereditary Sensory and Autonomic Neuropathy Type IV

  • Congenital Insensitivity to Pain with Anhidrosis (CIPA)
  • Familial Dysautonomia, Type II
  • Hereditary Sensory Neuropathy Type IV
  • HSAN IV
  • HSNAN4

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Hereditary sensory and autonomic neuropathy type IV (HSAN4 or HSAN IV) is a rare genetic disorder that usually begins in infancy and is characterized by an inability to feel pain and an inability to sweat (anhidrosis). Affected individuals also cannot feel temperature and cannot distinguish between hot and cold. The sensory loss in individuals with HSAN IV is due to abnormal functioning of the sensory nerves that control responses to pain and temperature. Anhidrosis can cause recurrent episodes of fever and high body temperature. An inability to feel pain can lead to unintentional self-mutation, repeated fractures, and joint damage. Affected individuals and especially children or infants may be unaware of injury delaying treatment. HSAN IV is caused by mutations in the NTRK1 gene. The disorder is inherited in an autosomal recessive manner.

Introduction
The hereditary sensory and autonomic neuropathies (HSAN), also known as the hereditary sensory neuropathies, include at least six similar, but distinct inherited degenerative disorders of the nervous system (neurodegenerative) that frequently progress to loss of feeling, especially in the hands and feet. Some of these disorders have several subtypes based upon the specific associated genes. Some types of HSAN are related to or identical with some forms of Charcot-Marie-Tooth disease, and others are related to or identical with familial dysautonomia (Riley-Day syndrome). The classification of the HSANs is complicated, and the experts to not always agree on it. Furthermore, HSANs are classified more broadly as peripheral neuropathies or disorders or the peripheral nervous system, which encompasses all of the nerves outside of the central nervous system (i.e. brain and spinal cord). HSAN IV is also known as congenital insensitivity to pain with anhidrosis (CIPA).

Hereditary Sensory and Autonomic Neuropathy Type IV Resources

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