Abstract

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.

Original languageEnglish (US)
Pages (from-to)145-157
Number of pages13
JournalJournal of Clinical Neuromuscular Disease
Volume11
Issue number3
DOIs
StatePublished - Mar 1 2010

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Neuromuscular Manifestations
Amyloidosis
Amyloid Neuropathies
Familial Amyloidosis
Genetic Testing
Stem Cell Transplantation
Peripheral Nervous System Diseases
Muscular Diseases
Amyloid
Liver Transplantation
Renal Insufficiency
Molecular Biology
Heart Failure
Staining and Labeling
Biopsy
Drug Therapy
Therapeutics

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

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abstract = "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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The neuromuscular manifestations of amyloidosis. / Simmons, Zachary; Specht, Charles S.

In: Journal of Clinical Neuromuscular Disease, Vol. 11, No. 3, 01.03.2010, p. 145-157.

Research output: Contribution to journalReview article

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AB - 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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