Sporadic late-onset nemaline myopathy with MGUS; Long-term follow-up after melphalan and SCT
(2014) Neurology — Vol. 83, n° 23, p. 2133-2139 (2014)
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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 (k vs l), 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 SLONMMGUS, HDM-SCT increases the probability of survival and functional improvement.
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Voermans, N. C., Benveniste, O., Minnema, M. C., Lokhorst, H., Lammens, M., Meersseman, W., Delforge, M., Kuntzer, T., Novy, J., Pabst, T., Bouhour, F., Romero, N., Leblond, V., Van den Bergh, P., Vekemans, M.-C., Van Engelen, B. G., & Eymard, B. (2014). Sporadic late-onset nemaline myopathy with MGUS; Long-term follow-up after melphalan and SCT. Neurology, 83(23), 2133-2139. https://doi.org/10.1212/WNL.0000000000001047 (Original work published 2014)