Multiple epiphyseal dysplasia (MED) is a hereditary disorder in which the end of long bones grows abnormally. In general, there are two types of multiple epiphyseal dysplasia: dominant and recessive. Recessive cases are rarer than dominant ones, and approximately nine out of 100,000 newborns are born with the disorder. Diagnosis of multiple epiphyseal dysplasia usually occurs at an early age, although some affected individuals might only exhibit mild symptoms that delay their diagnosis into adulthood, and other individuals who experience mild symptoms are never diagnosed at all. Treatment of multiple epiphyseal dysplasia varies from person to person.
The abnormal growth of the long bones leads to an array of symptoms. These symptoms include inflammation of cartilage and bone, as well as joint pain, most commonly in the hips and knees. In addition, 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 be affected by the disorder as well, 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 can have different, more prominent symptoms than those with dominant multiple epiphyseal dysplasia. For example, it is 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 such conditions as a cleft palate, clinodactyly and a clubfoot. In general, about 50% of individuals with the recessive type have at least one malformation.
A variety of treatment methods exist to deal with symptoms derived from multiple epiphyseal dysplasia. Typically, the goal of treatment is to alleviate pain and to slow down or prevent further destruction of the joints. Although pain can be hard to address and joint damage can be difficult to prevent, some treatment methods include analgesics, physiotherapy and surgery. Also, affected individuals can help themselves through lifestyle choices, such as keeping a healthy weight and avoiding activities that strain weight-bearing joints, like the hips. Doing so can slow down the need for, or even help avoid, more extensive treatment down the line.
An example of more extensive treatment would be joint replacement surgery. Although lack of treatment can lead individuals to require joint replacement, that is not to say that those who receive treatment will not need the surgery at some point as well. Despite the care and attention affected individuals need to deal with the disorder, most are able to otherwise lead normal lives.
