Motor Unit Number Index (MUNIX) of hand muscles is a disease biomarker for adult spinal muscular atrophy |
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| Affiliation: | 1. Department of Neurology, Technische Universität Dresden, Dresden, Germany;2. German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany;3. Neuromuscular Disease Unit/ALS Clinic, Kantonspital St. Gallen, St. Gallen, Switzerland;4. Department of Neurology, University Medical Center Göttingen, Göttingen, Germany;5. Cluster of Excellence Nanoscale Microscopy and Molecular Physiology of the Brain (CNMPB), Germany;1. Department of Clinical Neurophysiology, Aarhus University Hospital, Aarhus, Denmark;2. Institute of Neurology, Queen Square House, London, United Kingdom;3. Department of Neurology, Aarhus University Hospital, Aarhus, Denmark;1. Department of Clinical Neurophysiology, Aarhus University Hospital, Aarhus, Denmark;2. Department of Neurology, Aarhus University Hospital, Aarhus, Denmark;1. Department of Neurology, Universidade Federal de São Paulo, SP, Brazil;2. Department of Medicine, Division of Molecular Medicine, University of São Paulo School of Medicine (FMUSP), Brazil;1. School of Life and Health Sciences, Aston Brain Centre, Aston University, Birmingham, UK;2. Regional Neuromuscular Service, University Hospitals Birmingham, Birmingham, UK;3. Department of Clinical Neurophysiology, The Birmingham Women’s and Children’s Hospital NHS Foundation Trust, UK;1. Brain and Spinal Cord Injury Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran;2. International Neuroscience Institute, Hannover, Germany;3. Department of Neurology, University of Lübeck, Lübeck, Germany;4. Department of Neurology, Hannover Medical School, Hannover, Germany;1. Referral Centre for ALS and Neuromuscular Diseases, La Timone University Hospital, Aix-Marseille University, France;2. Iranian Centre of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, Iran;3. Aix-Marseille University, CNR2M, CNRS UMR 7286, Medicine Faculty, Marseille, France;4. Aix Marseille University, Inserm UMR S 910 Medical Genetics and Functional Genomics, Marseille, France;5. Immunology Laboratory, Conception University Hospital, Aix-Marseille University, France |
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| Abstract: | ObjectiveThere is still insufficient knowledge about natural history in adult spinal muscular atrophy, thus valid markers for treatment and disease monitoring are urgently needed.MethodsWe studied hand muscle innervation pattern of 38 adult genetically confirmed 5q spinal muscular atrophy (SMA) patients by the motor unit number index (MUNIX) method. Data were compared to healthy controls and amyotrophic lateral sclerosis (ALS) patients and systematically correlated to typical disease-relevant scores and other clinical as well as demographic characteristics.ResultsDenervation of hand muscles in adult SMA was not evenly distributed. By calculation of the MUNIX ratios, we identified a specific hand muscle wasting pattern for SMA which is different to the split hand in ALS. Furthermore, MUNIX parameters strongly correlated with established disease course parameters independent of disease stages.ConclusionWe found a pathophysiological remarkable denervation pattern of hand muscles, a ‘reversed split hand’. MUNIX of single hand muscles correlated well with disease severity and thus represents an easily available biomarker for adult SMA.SignificanceOur data show the power of the MUNIX method as a biomarker for upcoming questions in adult SMA. |
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| Keywords: | Split hand Spinal muscular atrophy Motor unit number Motor unit size Amyotrophic lateral sclerosis ADM" },{" #name" :" keyword" ," $" :{" id" :" k0035" }," $$" :[{" #name" :" text" ," _" :" abductor digiti minimi muscle ALS" },{" #name" :" keyword" ," $" :{" id" :" k0045" }," $$" :[{" #name" :" text" ," _" :" amyotrophic lateral sclerosis ALSFRSR" },{" #name" :" keyword" ," $" :{" id" :" k0055" }," $$" :[{" #name" :" text" ," _" :" amyotrophic lateral sclerosis functional rating scale revised APB" },{" #name" :" keyword" ," $" :{" id" :" k0065" }," $$" :[{" #name" :" text" ," _" :" abductor pollicis brevis muscle AUC" },{" #name" :" keyword" ," $" :{" id" :" k0075" }," $$" :[{" #name" :" text" ," _" :" area under the curve CMAP" },{" #name" :" keyword" ," $" :{" id" :" k0085" }," $$" :[{" #name" :" text" ," _" :" compound muscle action potential FDI" },{" #name" :" keyword" ," $" :{" id" :" k0095" }," $$" :[{" #name" :" text" ," _" :" first dorsal interosseous muscle HFMSE" },{" #name" :" keyword" ," $" :{" id" :" k0105" }," $$" :[{" #name" :" text" ," _" :" Hammersmith functional motor scale expanded MUNIX" },{" #name" :" keyword" ," $" :{" id" :" k0115" }," $$" :[{" #name" :" text" ," _" :" motor unit number index MUSIX" },{" #name" :" keyword" ," $" :{" id" :" k0125" }," $$" :[{" #name" :" text" ," _" :" motor unit size index ROC" },{" #name" :" keyword" ," $" :{" id" :" k0135" }," $$" :[{" #name" :" text" ," _" :" receiver-operator characteristics RULM" },{" #name" :" keyword" ," $" :{" id" :" k0145" }," $$" :[{" #name" :" text" ," _" :" revised upper limb module SIMUNIX" },{" #name" :" keyword" ," $" :{" id" :" k0155" }," $$" :[{" #name" :" text" ," _" :" split hand motor unit number index SMA" },{" #name" :" keyword" ," $" :{" id" :" k0165" }," $$" :[{" #name" :" text" ," _" :" spinal muscular atrophy survival of motorneuron 1 Sum MUNIX" },{" #name" :" keyword" ," $" :{" id" :" k0185" }," $$" :[{" #name" :" text" ," _" :" sum of APB MUNIX, ADM MUNIX and FDI MUNIX |
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