Multiple Epiphyseal Dysplasia (MED) is a rare genetic disorder that affects the development and growth of the bones, specifically the ends of the long bones called the epiphyses. It is a type of skeletal dysplasia that primarily affects the joints and can lead to various skeletal abnormalities.
Individuals with MED typically exhibit short stature and have abnormal joint function. The epiphyses, responsible for bone growth and development, may appear irregular and fragmented on medical imaging. The disorder is characterized by a delayed onset of joint pain, usually in childhood or adolescence, which can progress and affect daily activities.
Common symptoms of Multiple Epiphyseal Dysplasia include joint pain, stiffness, and restricted mobility. Patients may also experience early-onset osteoarthritis due to cartilage degeneration. The severity of symptoms can vary widely among affected individuals, with some only experiencing mild joint pain while others may have more significant bone abnormalities and functional limitations.
Multiple Epiphyseal Dysplasia is typically caused by mutations in certain genes associated with cartilage formation and maintenance, namely COMP, COL9A1, COL9A2, COL9A3, and MATN3. Inheritance patterns can differ, with MED being inherited in an autosomal dominant or autosomal recessive manner.
Treatment focuses on managing the symptoms and promoting healthy joint function. This involves a multidisciplinary approach, including physical therapy, pain management, assistive devices, and in some cases, surgical interventions. Early intervention and regular monitoring are essential to minimize complications and improve overall quality of life for individuals with Multiple Epiphyseal Dysplasia.
