A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis
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 discus...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2024-12-01
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| Series: | European Journal of Translational Myology |
| Subjects: | |
| Online Access: | https://www.pagepressjournals.org/bam/article/view/13249 |
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| Summary: | 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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| ISSN: | 2037-7452 2037-7460 |