Impact of Three Genetic Musculoskeletal Diseases: a Comparative Synthesis of Achondroplasia, Duchenne Muscular Dystrophy and Osteogenesis Imperfecta
Overview
Affiliations
Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on healthcare systems. This literature review aims to classify, summarize and compare these non-medical impacts of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.
Osteogenesis Imperfecta: A Case Series and Literature Review.
Neri Morales C, Silva Amaro A, Cardona J, Bendeck J, Cifuentes Gaitan K, Valencia V Cureus. 2023; 15(1):e33864.
PMID: 36819366 PMC: 9935240. DOI: 10.7759/cureus.33864.
Role of Matrix Metalloproteinases in Musculoskeletal Diseases.
Kumar L, Bisen M, Khan A, Kumar P, Patel S Biomedicines. 2022; 10(10).
PMID: 36289739 PMC: 9598837. DOI: 10.3390/biomedicines10102477.
Pfeiffer K, Brod M, Smith A, Viuff D, Ota S, Charlton R Am J Med Genet A. 2021; 188(2):454-462.
PMID: 34643322 PMC: 9291880. DOI: 10.1002/ajmg.a.62534.
Pfeiffer K, Brod M, Smith A, Viuff D, Ota S, Charlton R Orphanet J Rare Dis. 2021; 16(1):351.
PMID: 34362417 PMC: 8344208. DOI: 10.1186/s13023-021-01978-z.
Assessing physical symptoms, daily functioning, and well-being in children with achondroplasia.
Pfeiffer K, Brod M, Smith A, Gianettoni J, Viuff D, Ota S Am J Med Genet A. 2020; 185(1):33-45.
PMID: 33084192 PMC: 7756853. DOI: 10.1002/ajmg.a.61903.