Multiple epiphyseal dysplasia is an inherited disease that causes abnormal growth of long bones, leading to joint pain, inflammation, and malformations. Treatment aims to relieve pain and prevent further joint damage, with options including pain relievers, physical therapy, and surgery. Most affected individuals can lead normal lives.
Multiple epiphyseal dysplasia (MED) is an inherited disease in which the ends of long bones grow abnormally. In general, there are two types of multiple epiphyseal dysplasia: dominant and recessive. Recessive cases are rarer than dominant ones, and about nine out of 100,000 newborns are born with the disease. Diagnosis of multiple epiphyseal dysplasia usually occurs at an early age, although some affected individuals may have only mild symptoms delaying their diagnosis into adulthood, and other individuals who experience mild symptoms are never diagnosed. Treatment of multiple epiphyseal dysplasia varies from person to person.
Abnormal growth of long bones leads to a variety of symptoms. These symptoms include inflammation of the cartilage and bones, as well as joint pain, most commonly in the hips and knees. Also, early onset arthritis is not unusual. Individuals with multiple epiphyseal dysplasia might also have shortened limbs and stubby fingers and toes. Height and gait can also be affected by the disorder, with some individuals being on the shorter side of an average person and some individuals exhibiting a waddling walk.
Those with recessive multiple epiphyseal dysplasia may have different and more prominent symptoms than those with dominant multiple epiphyseal dysplasia. For example, it’s common for individuals with the recessive type to have malformations of different parts of the body, such as the hands, knees, and spine. Malformations include conditions such as cleft palate, clinodactyly, and clubfoot. In general, about 50% of recessive individuals have at least one malformation.
There are a variety of treatment methods to address the symptoms derived from multiple epiphyseal dysplasia. Typically, the goal of treatment is to relieve pain and slow or prevent further destruction of the joints. While pain can be difficult to deal with and joint damage can be difficult to prevent, some treatment methods include pain relievers, physical therapy, and surgery. Additionally, those affected can help themselves through lifestyle choices, such as maintaining a healthy weight and avoiding activities that strain weight-bearing joints, such as the hips. This can slow down the need for, or even help avoid, more extensive treatment down the line.
An example of a more extensive treatment would be joint replacement surgery. While lack of treatment may lead people to require joint replacement, that doesn’t mean that those receiving treatment won’t need the surgery at some point. Despite the care and attention those affected need to cope with the disorder, most are able to lead normal lives.
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