Multiple epiphyseal dysplasia (MED) is a rare genetic disorder that affects the development of the bones in the body. It is characterized by abnormalities in the growth plates, which are responsible for bone growth and development. MED primarily affects the long bones, such as those in the arms and legs, as well as the joints.
Individuals with MED may experience a range of symptoms, including joint pain, stiffness, and limited range of motion. The severity of symptoms can vary widely, even among affected family members. In some cases, individuals may also have a shorter stature or develop early-onset osteoarthritis.
The condition is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop MED. However, in some cases, it can also be inherited in an autosomal recessive manner.
Diagnosis of MED involves a combination of clinical evaluation, medical imaging, and genetic testing. While there is no cure for MED, treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, pain management, assistive devices, and surgical interventions when necessary.