Multiple epiphyseal dysplasia (MED), also known as multiple epiphyseal dysplasia type 1 (MED1) or epiphyseal dysplasia, multiple, 1 (EDM1), is a rare genetic disorder that affects the development of the bones in the body.
Individuals with MED typically experience abnormal growth and development of the epiphyses, which are the rounded ends of long bones that contribute to joint formation. This condition primarily affects the hips, knees, ankles, and wrists, leading to a variety of symptoms.
Common signs and symptoms of MED include short stature, joint pain, joint stiffness, and limited range of motion. These symptoms often become noticeable during childhood or adolescence as affected individuals may have difficulty participating in physical activities or experience pain during movement.
Other names for MED include epiphyseal dysplasia, multiple, with myopia and conductive deafness (EDMMD) and epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia (EDMPFD). These names reflect the different subtypes of MED that have been identified based on the specific features and severity of the condition.
Diagnosis of MED typically involves a combination of clinical evaluation, medical imaging (such as X-rays or MRI scans), and genetic testing. The identification of specific gene mutations associated with MED can help confirm the diagnosis and determine the subtype.
Treatment for MED is primarily focused on managing the symptoms and improving quality of life. This may involve a combination of physical therapy, pain management strategies, assistive devices (such as braces or crutches), and, in some cases, surgical interventions to address severe joint abnormalities.
Prognosis for individuals with MED varies depending on the specific subtype and severity of the condition. While MED is a lifelong condition, many individuals are able to lead relatively normal lives with appropriate management and support.