The Neuromuscular Manifestations of Amyloidosis

Simmons, Zachary; Specht, Charles S.

doi:10.1097/cnd.0b013e3181d05994

Cited by 35 publications

(39 citation statements)

References 83 publications

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“…Disease severity ranges from asymptomatic to severe, lifethreatening [4,7,25]. Beyond the initial symptoms like fatigue and weight loss, organs such as heart [26], kidney [27], gastrointestinal, liver, spleen [28] and nervous system (central and peripheral) [29] may involved with severe consequences.…”

Section: Discussionmentioning

confidence: 99%

Localized Tongue Amyloidosis in a Patient with Neurofibromatosis Type II

Andreadis¹,

Poulopoulos²,

Papadopoulos³

et al. 2011

Head and Neck Pathol

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Background Localized Amyloidosis (AL) may rarely involve oral mucosa. This is the first known reported case describing the development of tongue AL in a 30-year-old patient with Neurofibromatosis (NF) type-2. Case A female patient presented with a painless, well-circumscribed nodule of the tongue. Her medical history included NF type-2 with chromosome-22 abnormal karyotype (mosaicism), multiple intracranial and spinal meningiomas/ schwannomas and unilateral blindness/deafness. The biopsy of the excised lesion of the tongue revealed subepithelial accumulation of an amorphous, nodular, fibrillar material positive for Congo red. Blood examination showed increased Thyroxine-T4 due to thyroid multinodular colloid goiter, but excluded any other hematological/immunological disorder or organ dysfunction. No recurrence was observed after a sixmonth follow-up. Conclusion This case highlights the possibility of oral manifestations as the only sign of AL and reveals the unexpected co-existence of AL and NF 2, for the first time.

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Section: Discussionmentioning

confidence: 99%

Localized Tongue Amyloidosis in a Patient with Neurofibromatosis Type II

Andreadis¹,

Poulopoulos²,

Papadopoulos³

et al. 2011

Head and Neck Pathol

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“…Typically, it is symmetrical and progressive, involving the sensitive rather than motor function. The temperature and pain involvement may predominate over the loss of proprioception, because the amyloid is mainly deposited in small myelinated and unmyelinated fibers [2,4,5,[8][9][10]. The initial damage of nonmyelinated fibers may explain the discrepancy between the development of neuropathy and the subtle abnormalities in the measurement parameters of nerve conduction [9].…”

Section: Literature Reviewmentioning

confidence: 98%

“…Before the 2000s and the emergence of effective treatments for patients with isolated amyloid peripheral neuropathy, the median survival was 25 versus 4-6 months for patients with clinical signs of heart failure [4,5,8]. The treatment of amyloidosis using new drugs or therapeutic protocols, including bortezomib, improves prognosis [1,3].…”

Section: Literature Reviewmentioning

confidence: 98%

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Neuroarthropathy of the foot revealing primary systemic amyloidosis: case report and literature review

et al. 2014

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The aims of this review were to describe the case of a patient with debilitating neuroarthropathy of the ankles and feet and reveal a primary systemic (amyloid light chain, AL) amyloidosis and to review the relevant literature concerning the peripheral neuropathy and neuroarthropathy due to amyloidosis. We will emphasize the diagnostic pitfalls and discuss prognosis and treatments of both the peripheral neuropathy and the arthropathy related to AL amyloidosis. This is a descriptive case report of a patient with neuroarthropathy of the lower limbs due to AL amyloidosis. A review and discussion of relevant literature were conducted, based on a PubMed search from 1973 to December 2013. A 51-year-old female was diagnosed with AL amyloidosis after 20 months of investigation of small painful deformities of the feet. Chronic peripheral neuropathy occurs as a manifestation of AL amyloidosis in 25 % of cases. It may exceptionally be complicated by neuroarthropathy. In this case, the paucity of clinical and electrophysiological signs of the neuropathy delayed the diagnosis, leading to a severe arthropathy. The massive destruction of the joints dominated the clinical and the poor functional outcome. Diagnosis of AL amyloidosis should be considered in the presence of a mild peripheral neuropathy and a distal destructive and painless arthropathy. The two key diagnostic procedures are serum protein electrophoresis and nerve biopsy. Delay in treatment worsens the prognosis.

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“…Betrachtet man alle TTR-Amyloidosen zusammen, ist das Herz das am häufigsten betroffene Organ. Ungeklärt ist bisher, wieso die Erkrankung fast ausschließlich den Herzmuskel, selten jedoch die Skelettmuskulatur betrifft [22].…”

Section: Familiäre Amyloidkardiomyopathieunclassified

Hereditäre Transthyretin-Amyloidosen

Hund

2014

Nervenarzt

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Hereditary amyloidosis is an autosomal dominant fatal multisystem disease caused by extracellular deposition of misfolded proteins and, therefore represents a hereditary protein folding or deposition disease that leads to progressive organ damage and eventually death. In most instances mutations within the transthyretin gene are the underlying cause. The main manifestation is a rapidly progressing axonal sensorimotor and autonomic polyneuropathy (familial amyloid polyneuropathy, FAP). Cardiac involvement is frequent in FAP and additional manifestations include the gastrointestinal tract and the eyes. A second manifestation type is cardiomyopathy with little or no polyneuropathy (familial amyloid cardiomyopathy, FAC). For therapy, orthotopic liver transplantation has been established for 25 years. Recently, the oral agent tafamidis, a transthyretin stabilizer, was licensed for treatment of stage 1 polyneuropathy. Additional treatment options are currently being studied.

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The Neuromuscular Manifestations of Amyloidosis

Cited by 35 publications

References 83 publications

Localized Tongue Amyloidosis in a Patient with Neurofibromatosis Type II

Localized Tongue Amyloidosis in a Patient with Neurofibromatosis Type II

Neuroarthropathy of the foot revealing primary systemic amyloidosis: case report and literature review

Hereditäre Transthyretin-Amyloidosen

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