Understanding Diastrophic Dysplasia: A Genetic Mutation
Diastrophic dysplasia is a rare genetic disorder that affects the development of bones and joints in the body.
Caused by a mutation in the SLC26A2 gene, diastrophic dysplasia leads to abnormal cartilage formation and skeletal deformities.
The SLC26A2 gene is responsible for producing a protein that helps cartilage cells function properly.
Individuals with diastrophic dysplasia typically have short stature, joint deformities, and limited mobility.
Although there is currently no cure for diastrophic dysplasia, treatment options such as physical therapy and surgery can help manage symptoms and improve quality of life for those affected by the disorder.
Research is ongoing to better understand the genetic mutation behind diastrophic dysplasia and develop new therapeutic interventions.