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Journal Article
Review
The neuromuscular manifestations of amyloidosis.
Journal of Clinical Neuromuscular Disease 2010 March
Amyloidosis is a systemic disease that may be acquired or hereditary and which results in the deposition of amyloid fibrils in a variety of tissues causing their progressive dysfunction. Although the clinical presentation often is dominated by cardiac or renal failure, peripheral neuropathy may be a significant or the initial manifestation, resulting in presentation to the neurologist. Diagnosis often is challenging and may require multiple diagnostic procedures, including more than one biopsy. Acquired and hereditary amyloidosis can be definitively distinguished from one another only by immunohistochemical staining or molecular genetic testing. Treatment remains a challenge, although chemotherapy and autologous stem cell transplantation offer hope for those with primary systemic amyloidosis, whereas liver transplantation is effective for some forms of hereditary amyloid neuropathy. Much less commonly, myopathy may be a clinically significant manifestation of amyloidosis.
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