Trusted Resources: Education
Scientific literature and patient education texts
Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis
source: Journal of Neuromuscular Diseases
year: 2019
authors: Kapoor M, Rossor AM, Laura M, Reilly MM
summary/abstract: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 therapeutic advances in this disabling condition.
organization: UCL Institute of Neurology, UKDOI: 10.3233/JND-180371
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