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Familial amyloid neuropathy

Synonyms
AMYLOID CARDIOMYOPATHY; AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED; Amyloid polyneuropathy transthyretin related; Amyloidosis Transthyretin related; Familial Amyloid Polyneuropathy Type 1(Portuguese-Swedish-Japanese type); Familial Amyloid Polyneuropathy Type II (Indiana/Swiss or Maryland/German type); Familial Transthyretin Amyloidosis; Familial amyloid polyneuropathy; Hereditary oculoleptomeningeal amyloid angiopathy; TTR amyloid neuropathy; Transthyretin amyloidosis
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Hereditary Transthyretin Amyloidosis
Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesias and hypesthesias of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early-onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Yoshiki Sekijima
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Available tests

114 tests are in the database for this condition.

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Clinical tests (114 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATTR, CTS, CTS1, HEL111, HsT2651, PALB, TBPA, TTN, TTR
    Summary: transthyretin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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