Disease Information for Neuropathy, congenital/autonomic sensory type I

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Clinical Manifestations
Signs & Symptoms
Anesthetic hypesthetic limbs/areas
Glove/stocking hypesthesia
Chronic Low Body Temperature
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
Isotope Scan
Isotope/Gastric Emptying Delay
Electrodiagnosis
EMG/NCS Slowing
X-RAY With contrast
UGI/Gastric Emptying Time Delay
Associated Diseases & Rule outs
Rule Outs
Diabetic autonomic neuropathy syndrome
Associated Disease & Complications
Charcot neuroarthropathic joint
Orthostatic hypotension syndrome
Painful neuropathy
Peripheral neuropathy
Polyneuritis
Sensory neuropathy
Polyneuropathy
Disease Mechanism & Classification
Class
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Delayed gastric emptying/gastrostasis
Pathophysiology/Delayed nerve conduction velocity
Pathophysiology/Hereditary Neuropathy
Process
PROCESS/Congenital/developmental (category)
Definition

Hereditary Sensory, Type I; HSAN1; Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant; Neuropathy, Hereditary Sensory and Autonomic, Type I HSAN1; The hereditary sensory neuropathies (HSN) include 4-6 similar but distinct inherited, degenerative disorders of the nervous system (neurodegenerative) that frequently progress to loss of feeling, especially in the hands and feet; The classification of the hereditary sensory neuropathies is complicated, and the experts do not always agree; This report deals with HSN type I. There is a separate report in NORD’s Rare Disease Database dealing with HSN type II; One other type of hereditary sensory neuropathy, HSN-III, is related to, or identical with, familial dysautonomia (Riley-Day syndrome); Another type, HSN-IV, is related to, or identical with, a form of Charcot-Marie-Tooth disorder; Hereditary sensory neuropathy Type I (HSN1) is a rare genetic disorder characterized by the loss of sensation (sensory loss), especially in the feet and legs and, less severely, in the hands and forearms; The 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. other involuntary or automatic body processes;

The disorder is inherited as an autosomal dominant trait, and the mutated gene has been identified and tracked to a site on chromosome 9; HSNs of various types may attack a single nerve (mononeuropathy) or many nerves simultaneously (polyneuropathy); The resulting symptoms may involve sensory, motor, reflex, or blood vessel (vasomotor) functions;

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External Links Related to Neuropathy, congenital/autonomic sensory type I
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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