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Inherited autonomic neuropathies.

Felicia B Axelrod¹, Max J Hilz

¹Department of Neurology, New Yourk University School of Medicine, New York, NY 10016, USA.

Seminars in Neurology

|April 17, 2004

Summary

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Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic disorders affecting sensory function. Current treatments are supportive, as definitive therapies for these complex neuropathies are unavailable.

Area of Science:

Neurology
Genetics
Rare Diseases

Background:

Inherited autonomic neuropathies, collectively known as hereditary sensory and autonomic neuropathies (HSAN), are rare disorders.
These conditions are characterized by significant sensory dysfunction.

Purpose of the Study:

To provide an overview of the classification, diagnosis, and management of hereditary sensory and autonomic neuropathies.
To highlight key subtypes and diagnostic approaches for HSAN.

Main Methods:

Review of existing literature on hereditary sensory and autonomic neuropathies.
Analysis of diagnostic criteria including clinical examination, sensory/autonomic assessments, and genetic testing.

Main Results:

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Classification of HSAN is evolving, with established forms like HSAN type III (familial dysautonomia) and HSAN type IV (congenital insensitivity to pain).

Diagnosis relies on clinical findings, specialized assessments, and increasingly, genetic mutation identification.

No replacement or definitive therapies exist; management is supportive and symptomatic.

Conclusions:

Hereditary sensory and autonomic neuropathies encompass a spectrum of rare genetic disorders.
Accurate diagnosis involves a combination of clinical, pathological, and genetic evaluations.
Current management focuses on supportive care due to the absence of definitive treatments.