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Hereditary Sensory Neuropathy Type I

Abstract

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NORD is very grateful to Mary M. Reilly MD, Professor of Clinical Neurology and Consultant Neurologist, Head of Division of Clinical Neurology, Institute of Neurology, MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, London, for assistance in the preparation of this report.

Synonyms of Hereditary Sensory Neuropathy Type I

  • Hereditary Sensory and Autonomic Neuropathy (HSAN) Type I
  • Hereditary Sensory Radicular Neuropathy, Autosomal Dominant
  • HSAN1
  • HSN1
  • Thevenard syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Hereditary sensory neuropathy type I (HSN1) belongs to a group of similar but distinct genetic disorders characterized by abnormalities affecting the nerves, especially of those of the hands and feet. These degenerative disorders of the nervous system (neurodegenerative disorders) are slowly progressive and predominantly affect the sensory nerves, which frequently leads to loss of feeling (sensation) in the hands and feet. This sensory loss is due to abnormal functioning of the sensory nerves that control responses to pain and temperature and may also affect the autonomic nervous system that controls other involuntary or automatic body processes. Specific symptoms can vary widely from one person to another. HSN1 occurs due to mutations in specific genes and is inherited as an autosomal dominant trait. There are several subtypes of HSN1 designated A through E, each one associated with a different gene.

Introduction
The hereditary sensory neuropathies (HSNs), also known as the hereditary sensory and autonomic 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. The classification of the HSNs is complicated, and the experts do not always agree on it. Furthermore, HSNs are classified more broadly as peripheral neuropathies or disorders of the peripheral nervous system, which encompasses all of the nerves outside of the central nervous system. NORD’s Rare Disease Database has separate reports on HSN2, HSN3 (which is related to, or identical with familial dysautonomia), and HSN4.

Hereditary Sensory Neuropathy Type I Resources

Organizations:

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