Diastrophic Dysplasia is a rare genetic disorder that affects bone and cartilage development. It is not contagious and cannot be transmitted from person to person. Diastrophic Dysplasia is caused by mutations in a specific gene and is typically inherited from parents who carry the gene. It is important to consult with a healthcare professional for accurate diagnosis and management of this condition.
Diastrophic Dysplasia is a rare genetic disorder that affects bone and cartilage development. It is caused by mutations in the SLC26A2 gene, which is responsible for producing a protein called diastrophic dysplasia sulfate transporter. This protein plays a crucial role in the formation of cartilage and its proper functioning.
Diastrophic Dysplasia is an inherited condition, meaning it is passed down from parents to their children. It follows an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene for their child to be affected. Individuals with only one copy of the mutated gene are carriers and typically do not show symptoms of the condition.
It is important to note that Diastrophic Dysplasia is not contagious. It cannot be transmitted from person to person through any form of contact or exposure. It is solely a genetic disorder that is present from birth.
Diastrophic Dysplasia affects various parts of the body, including the limbs, spine, and joints. It can lead to short stature, joint deformities, and mobility issues. Treatment options for Diastrophic Dysplasia focus on managing symptoms and improving quality of life. These may include physical therapy, assistive devices, and in some cases, surgical interventions.