Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis.
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ABSTRACT:
SUBMITTER: Kapoor M
PROVIDER: S-EPMC6598024 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis.
Kapoor Mahima M Rossor Alexander M AM Laura Matilde M Reilly Mary M MM
Journal of neuromuscular diseases 20190101 2
Systemic amyloidosis can be hereditary or acquired with autosomal dominant mutations in the transthyretin gene (TTR) being the most common cause of hereditary amyloidosis. ATTRm amyloidosis is a multi-system disorder with cardiovascular, peripheral and autonomic nerve involvement that can be difficult to diagnose due to phenotypic heterogeneity. This review will focus on the neuropathic manifestations of ATTRm, the genotype-phenotype variability, the diagnostic approach and the recent therapeuti ...[more]
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