What is hopkinsons diesease?
Hopkinson's disease, also known as hypophosphatasia, is a rare genetic disorder characterized by the abnormal development of bones and teeth due to a deficiency of the enzyme alkaline phosphatase. This condition can lead to symptoms such as weak bones, frequent fractures, and dental issues. It is caused by mutations in the ALPL gene and can vary in severity, affecting individuals of all ages. Treatment often focuses on managing symptoms and may include enzyme replacement therapy in some cases.