https://doi.org/10.4081/ejtm.2024.13249

A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis

Early Access
Submitted: 12 October 2024
Accepted: 16 October 2024
Published: 19 December 2024
Rehabilitation, adolescent idiopathic scoliosis, electroencephalography, GH deficiency, MYH3 gene
Abstract Views: 18
PDF: 13
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Authors

Maria Chiara Maccarone
mariachiara.maccarone@phd.unipd.it
https://orcid.org/0000-0003-2793-1334
Department of Neurosciences, Section of Rehabilitation, University of Padova, Padova, Italy; Padova Neuroscience Center, University of Padova, Padova, Italy.
Matilde Paramento
https://orcid.org/0000-0002-3268-0309
Department of Neurosciences, Section of Rehabilitation, University of Padova, Padova, Italy; Department of Information Engineering, University of Padova, Padova, Italy.
Edoardo Passarotto
https://orcid.org/0000-0001-7653-9377
Department of Neurosciences, Section of Rehabilitation, University of Padova, Padova, Italy.
Paola Contessa
https://orcid.org/0000-0002-8645-6783
Orthopedic Rehabilitation Unit, Padova University Hospital, Padova, Italy.
Maria Rubega
https://orcid.org/0000-0002-0744-3109
Department of Neurosciences, Section of Rehabilitation, University of Padova, Padova, Italy.
Emanuela Formaggio
https://orcid.org/0000-0002-3417-0388
Department of Neurosciences, Section of Rehabilitation, University of Padova, Padova, Italy.
Stefano Masiero
Department of Neurosciences, Section of Rehabilitation, University of Padova, Padova, Italy; Orthopedic Rehabilitation Unit, Padova University Hospital, Padova, Italy.

Scoliosis is a three-dimensional spinal deformity characterized by a lateral deviation of at least 10° Cobb, categorized into idiopathic and non-idiopathic forms, caused by identifiable factors like congenital abnormalities, neuromuscular conditions, or genetic syndromes.

This case report discusses a 15-year-old girl with growth delay and growth hormone (GH) deficiency who experienced rapid scoliosis progression. Initial evaluations were normal, and electroencephalography (EEG) showed nonspecific alterations, but further assessment revealed a MYH3 gene variant associated with scoliosis, short stature, and distinct facial features. Treatment with a Lyon ARTbrace and tailored exercises stopped curve progression. This case highlights the need for thorough evaluations in atypical AIS cases to uncover potential causes.

 

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How to Cite

Maccarone, M. C., Paramento, M., Passarotto, E., Contessa, P., Rubega, M., Formaggio, E., & Masiero, S. (2024). A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis. European Journal of Translational Myology. https://doi.org/10.4081/ejtm.2024.13249
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