Multiple epiphyseal dysplasia

Multipel epifyseal dysplasi skelett

Multiple Epiphyseal Dysplasia (MED) is a genetic disorder that primarily affects the bones. It is characterized by abnormalities in the growing ends of the bones, known as epiphyses. These abnormalities can lead to a variety of symptoms, including pain, limited mobility, and early-onset osteoarthritis.

Symptoms and Signs

The symptoms of MED can vary greatly from person to person. Some individuals may have mild symptoms that are barely noticeable, while others may have severe symptoms that significantly impact their quality of life. Common symptoms include:

• Pain in the hips, knees, ankles, and elbows
• Limited range of motion in the affected joints
• Early-onset osteoarthritis
• Short stature
• Abnormalities in the hands and feet, such as clubfoot or flat feet

Causes

MED is caused by mutations in one of several genes, including COL9A1, COL9A2, COL9A3, COMP, and MATN3. These genes are involved in the formation of cartilage, a flexible tissue that is essential for normal bone growth and development. Mutations in these genes disrupt the normal development of cartilage, leading to the symptoms of MED.

Diagnosis

The diagnosis of MED is typically based on a combination of physical examination, medical history, and imaging studies. X-rays can reveal characteristic abnormalities in the epiphyses of the bones. In some cases, genetic testing may be used to confirm the diagnosis.

Treatment

There is currently no cure for MED. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, pain management, and in some cases, surgery to correct bone deformities or replace damaged joints.

See Also

• Osteochondrodysplasia
• Genetic disorder
• Cartilage

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