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Reliable virtual clinical assessment in spino-bulbar muscular atrophy (SBMA)
  1. Silvia Fenu1,
  2. Irene Tramacere2,
  3. Francesca De Giorgi3,
  4. Davide Pareyson1
  1. 1 Department of Clinical Neurosciences, Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
  2. 2 Department of Research and Clinical Development, Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
  3. 3 Unit of Informative Services, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
  1. Correspondence to Dr Silvia Fenu, Department of Clinical Neurosciences, Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy; silvia.fenu{at}


Background Spino-bulbar muscular atrophy (SBMA), caused by a CAG repeat expansion in the androgen receptor gene, affects adult men and results in muscle atrophy and weakness in the bulbar and limb muscles and signs of partial androgen insensitivity. During the COVID-19 pandemic, outpatients’ visits have been reduced to preserve safety of frail patients, and telehealth was largely employed.

Methods From April to November 2020, we monitored 12 patients with SBMA with telehealth and administered remotely two clinical scales currently used for SBMA: Adult Myopathy Assessment Tool (AMAT) and SBMA-Functional Rating Scale (SBMA-FRS). We compared results with previous and subsequent in-person visits’ scores, and assessed the longitudinal changes in AMAT and SBMA-FRS scores during 7 years through the repeated measures analysis of variance (ANOVA).

Results Repeated measures ANOVA of AMAT scores collected during 7 years and including tele-AMAT evaluation showed a steady mean decline of 1–2 points per year. A similar trend of SBMA-FRS scores, with a mean decline per year of about 1 point, was observed. There was no relevant deviation from the model prediction.

Conclusions Our data show that telehealth is a valid tool to monitor patients with SBMA: AMAT and SBMA-FRS scales can be effectively, reliably and easily administered remotely.

  • COVID-19
  • spinal muscular atro

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  • Contributors SF—study design, acquisition of data and drafting the manuscript. IT—statistical analysis and revision of the manuscript. FDG—study design and revision of the manuscript. DP—study design, drafting and revision of the manuscript.

  • Funding The study was funded by Telethon-Italy Foundation (grant GUP15009) and partially supported by the Italian Ministry of Health (RRC).

  • Competing interests DP acknowledges donations from Pfizer, LAM Therapeutics and Acceleron to support research activities of his research unit; financial support from Pfizer, Alnylam and Kedrion for participation in national and international meetings; participation in Advisory Board of Inflectis, Alnylam, Akcea, Arvinas and Augustine Tx; and speaker honorarium from Alnylam. SF and DP are members of the Euro-NMD ERN.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.