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

J Neurol. 2018 Mar;265(3):542-551. doi: 10.1007/s00415-018-8741-y. Epub 2018 Jan 22.


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.

Keywords: Intravenous immunoglobulins; Late-onset myopathy; Monoclonal gammopathy; Muscle MRI; Nemaline rods.

MeSH terms

  • Adult
  • Aged
  • Creatine Kinase / blood
  • Electromyography
  • Female
  • Follow-Up Studies
  • Heart / physiopathology
  • Humans
  • Immunoglobulins, Intravenous / therapeutic use
  • Immunologic Factors / therapeutic use
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscle, Skeletal / diagnostic imaging*
  • Muscle, Skeletal / drug effects
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiopathology
  • Myopathies, Nemaline / diagnostic imaging*
  • Myopathies, Nemaline / drug therapy
  • Myopathies, Nemaline / pathology*
  • Myopathies, Nemaline / physiopathology
  • Neural Conduction
  • Referral and Consultation
  • Respiratory Function Tests
  • Retrospective Studies
  • Severity of Illness Index
  • Time Factors
  • Treatment Outcome


  • Immunoglobulins, Intravenous
  • Immunologic Factors
  • Creatine Kinase