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Sporadic late onset nemaline myopathy and immunoglobulin deposition disease.
Muscle Nerve. 2013 Dec; 48(6):983-8.MN

Abstract

INTRODUCTION

In monoclonal gammopathy, organ dysfunction can occur due to deposition of immunoglobulin fragments. A rare form of acquired myopathy often associated with monoclonal gammopathy is sporadic late onset nemaline myopathy (SLONM), which is characterized by nemaline rods in myofibers. The pathogenetic link between monoclonal gammopathy and SLONM has not yet been elucidated.

METHODS

Case report of a patient with monoclonal gammopathy who developed a progressive myopathy, finally diagnosed as SLONM.

RESULTS

A muscle biopsy showed mild myopathic changes. A second biopsy 1 year after clinical onset demonstrated deposition of immunoglobulin light and heavy chains and the presence of nemaline rods. The patient experienced marked improvement of muscle strength after autologous stem cell transplantation and treatment with bortezomib, a therapy that is known to be effective in light chain deposition disease.

CONCLUSIONS

We speculate that deposition of light and heavy chains, rather than nemaline bodies, has myotoxic effects on skeletal muscle.

Authors+Show Affiliations

Neurologische Klinik, Universitätsklinikum Würzburg, Josef-Schneider-Str. 11, 97080, Würzburg, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23873431

Citation

Doppler, Kathrin, et al. "Sporadic Late Onset Nemaline Myopathy and Immunoglobulin Deposition Disease." Muscle & Nerve, vol. 48, no. 6, 2013, pp. 983-8.
Doppler K, Knop S, Einsele H, et al. Sporadic late onset nemaline myopathy and immunoglobulin deposition disease. Muscle Nerve. 2013;48(6):983-8.
Doppler, K., Knop, S., Einsele, H., Sommer, C., & Wessig, C. (2013). Sporadic late onset nemaline myopathy and immunoglobulin deposition disease. Muscle & Nerve, 48(6), 983-8. https://doi.org/10.1002/mus.23954
Doppler K, et al. Sporadic Late Onset Nemaline Myopathy and Immunoglobulin Deposition Disease. Muscle Nerve. 2013;48(6):983-8. PubMed PMID: 23873431.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sporadic late onset nemaline myopathy and immunoglobulin deposition disease. AU - Doppler,Kathrin, AU - Knop,Stefan, AU - Einsele,Hermann, AU - Sommer,Claudia, AU - Wessig,Carsten, Y1 - 2013/10/28/ PY - 2013/01/21/received PY - 2013/06/11/revised PY - 2013/07/06/accepted PY - 2013/7/23/entrez PY - 2013/7/23/pubmed PY - 2014/1/15/medline KW - bortezomib KW - immunoglobulin deposition KW - light and heavy chain deposition disease KW - muscle biopsy KW - sporadic late onset nemaline myopathy (SLONM) SP - 983 EP - 8 JF - Muscle & nerve JO - Muscle Nerve VL - 48 IS - 6 N2 - INTRODUCTION: In monoclonal gammopathy, organ dysfunction can occur due to deposition of immunoglobulin fragments. A rare form of acquired myopathy often associated with monoclonal gammopathy is sporadic late onset nemaline myopathy (SLONM), which is characterized by nemaline rods in myofibers. The pathogenetic link between monoclonal gammopathy and SLONM has not yet been elucidated. METHODS: Case report of a patient with monoclonal gammopathy who developed a progressive myopathy, finally diagnosed as SLONM. RESULTS: A muscle biopsy showed mild myopathic changes. A second biopsy 1 year after clinical onset demonstrated deposition of immunoglobulin light and heavy chains and the presence of nemaline rods. The patient experienced marked improvement of muscle strength after autologous stem cell transplantation and treatment with bortezomib, a therapy that is known to be effective in light chain deposition disease. CONCLUSIONS: We speculate that deposition of light and heavy chains, rather than nemaline bodies, has myotoxic effects on skeletal muscle. SN - 1097-4598 UR - https://www.unboundmedicine.com/medline/citation/23873431/Sporadic_late_onset_nemaline_myopathy_and_immunoglobulin_deposition_disease_ L2 - https://doi.org/10.1002/mus.23954 DB - PRIME DP - Unbound Medicine ER -