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Original Research ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Neurol. | doi: 10.3389/fneur.2019.01098

Patient-reported prevalence of non-motor symptoms is low in adult patients suffering from 5q spinal muscular atrophy

 Rene Günther1, 2*,  Claudia D. Wurster3, Isabell Cordts4,  Jan C. Koch5,  Christoph Kamm6, Daniel Petzold1,  Elisa Aust1, Paul Lingor4, Albert C. Ludolph2, 3 and Andreas Hermann2, 7
  • 1Department of Neurology, University Hospital Carl Gustav Carus, Germany
  • 2German Center for Neurodegenerative Diseases (DZNE), Germany
  • 3Department of Neurology, University of Ulm, Germany
  • 4Department of Neurology, University Hospital rechts der Isar, Technical University of Munich, Germany
  • 5Department of Neurology, University Medical Center Groningen, Netherlands
  • 6Department of Neurology, University Hospital Rostock, Germany
  • 7Section for Translational Neurodegeneration Albrecht Kossel, University Hospital Rostock, Germany

Background: 5q spinal muscular atrophy (SMA) is an autosomal recessive lower motoneuron disease caused by deletion or mutations in the survival motor neuron 1 gene (SMN1) which results in reduced expression of full-length SMN protein. The main symptoms are caused by spinal motor neuron demise leading to muscle atrophy, and medical care mostly refers to motor symptoms. However, new insights of recent studies in severe SMA type I revealed disease involvement of several non-motor regions, for example cardiac, vascular, sensory nerve involvement and thalamic lesions. Non-motor symptoms (NMS) were previously described in many neurodegenerative diseases i.e. Parkinson’s disease and, importantly, also amyotrophic lateral sclerosis.
Methods: We screened for NMS in 70 adult patients with SMA type II (SMAII) and type III (SMAIII) and 59 age/sex-matched healthy controls (controls) in a multicenter cross-sectional study including 5 different centers with specialized expertise in medical health care of motoneuron diseases. We used a self-rating questionnaire including 30 different items of gastrointestinal, autonomic, neuropsychiatric, and sleep complaints [NMS questionnaire (NMSQuest)], which is a validated tool in Parkinson’s disease.
Results: Total NMS burden was low in adult SMA (median: 3 items) and not significantly different compared to controls (median: 2 items). Total NMS of SMA patients did not correlate with disease severity scores. However, the items ‘swallowing difficulties’, ‘falling’ and particularly ‘swelling legs’ were significantly more frequently reported in SMA. Neuropsychiatric symptoms were reported in a frequency comparable to controls and were not significantly increased in SMA.
Conclusion: Patient-reported prevalence of NMS in adult SMA was low, which does not argue for a clinically relevant multisystemic disorder in SMAII/III. Importantly, adult SMA patients do not seem to suffer more frequently from symptoms of depression or adaptive disorders compared to controls. Our results yield novel information on previously underreported symptoms and will help to improve the medical guidance of these patients.

Keywords: spinal muscular atrophy, non-motor symptoms, NMSQuest, SMA, motoneuron disease

Received: 01 Jul 2019; Accepted: 01 Oct 2019.

Copyright: © 2019 Günther, Wurster, Cordts, Koch, Kamm, Petzold, Aust, Lingor, Ludolph and Hermann. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Rene Günther, Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Lower Saxony, Germany,