Title
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Sporadic late-onset nemaline myopathy with MGUS Long-term follow-up after melphalan and SCT
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Author
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Abstract
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Objective: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. If associated with a monoclonal gammopathy of unknown significance (MGUS), the outcome is unfavorable: the majority of these patients die within 1 to 5 years of respiratory failure. This study aims to qualitatively assess the long-term treatment effect of high-dose melphalan (HDM) followed by autologous stem cell transplantation (SCT) in a series of 8 patients with SLONM-MGUS. Methods: We performed a retrospective case series study (n=8) on the long-term (1-8 years) treatment effect of HDM followed by autologous SCT (HDM-SCT) on survival, muscle strength, and functional capacities. Results: Seven patients showed a lasting moderate-good clinical response, 2 of them after the second HDM-SCT. All of them had a complete, a very good partial, or a partial hematologic response. One patient showed no clinical or hematologic response and died. Conclusions: This case series shows the positive effect of HDM-SCT in this rare disorder. Factors that may portend an unfavorable outcome are a long disease course before the hematologic treatment and a poor hematologic response. Age at onset, level and type of M protein (kappa vs lambda), and severity of muscle weakness were not associated with a specific outcome. Classification of evidence: This study provides Class IV evidence that for patients with SLON-MMGUS, HDM-SCT increases the probability of survival and functional improvement. |
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Language
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English
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Source (journal)
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Neurology / American Academy of Neurology. - Minneapolis, Minn
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Publication
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Minneapolis, Minn
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2014
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ISSN
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0028-3878
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DOI
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10.1212/WNL.0000000000001047
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Volume/pages
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83
:23
(2014)
, p. 2133-2139
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ISI
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000345858400009
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Pubmed ID
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25378674
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Full text (Publisher's DOI)
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Full text (open access)
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