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Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort

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Abstract

Sporadic late-onset nemaline myopathy (SLONM) is a rare acquired myopathy characterized by rapid-onset proximal weakness in late adulthood, and the presence of nemaline bodies on muscle biopsy. In recent years, several therapeutic interventions, including immunomodulating agents and autologous stem cell transplantation, have shown variable degrees of efficacy in different patients, but no consensus has been reached to allow an effective tailoring of treatments in this severe disease. We performed a retrospective evaluation of clinical, pathological, laboratory, muscle MRI, and follow-up data of SLONM patients diagnosed in the period 2010–2015 in our neuromuscular center. Six patients (three males and three females) were identified. Average time elapsed from the onset of symptoms to referral to the neuromuscular specialist was 23.7 months. Monoclonal gammopathy was detectable in five patients. Nemaline bodies were detected in all the patients, and their abundance correlated with clinical severity. Signs of cardiac involvement were present in all the patients to different extents. Muscle MRI showed a preferential involvement of neck extensors, paraspinal, gluteal, hamstring and soleus muscles. All patients were treated with prednisone and repeated courses of intravenous immunoglobulins, and a favorable outcome was reached in five patients. Our experience confirms that SLONM is clinically characterized by subacute proximal and axial muscle weakness. Time to referral was relatively long and should be reduced with increasing awareness of the disease. Muscle MRI could be of help as a diagnostic tool to identify this potentially treatable myopathy. Cardiac evaluation should be warranted in all SLONM patients to detect subclinical heart involvement.

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Acknowledgements

We gratefully thank Dr. Niels Bergsland for his help in revising the English style of the manuscript.

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Authors and Affiliations

  1. Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario “A. Gemelli”, Largo A. Gemelli 8, 00168, Rome, Italy

    Mauro Monforte, Guido Primiano, Gabriella Silvestri, Massimiliano Mirabella, Marco Luigetti, Cristina Cuccagna, Enzo Ricci, Serenella Servidei & Giorgio Tasca

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  1. Mauro Monforte
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  2. Guido Primiano
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  3. Gabriella Silvestri
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  4. Massimiliano Mirabella
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  9. Giorgio Tasca
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Correspondence to Mauro Monforte.

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This study was approved by the ethics committee of the Catholic University School of Medicine.

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Informed consent was obtained from all patients for being included in the study.

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Monforte, M., Primiano, G., Silvestri, G. et al. Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort. J Neurol 265, 542–551 (2018). https://doi.org/10.1007/s00415-018-8741-y

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  • DOI: https://doi.org/10.1007/s00415-018-8741-y

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