Definition:
Oculomelic amyoplasia is a genetic disorder resulting in limb contractures from birth and eye abnormalities.
Diagnosis:
At present, there are no prenatal diagnostic tools to test the condition. Diagnosis based on muscle biopsies, blood tests, and general clinical findings are used to rule out other causes or disorders.
Treatment:
The condition has no cure. However, patients are treated through physical therapy to alleviate the symptoms and deformities. Physical therapy stretches, strengthens, trains muscle mobility to improve flexion and range of motion. Occupational therapy helps patients in their day to day living and address psychosocial and emotional implications of the condition. Patients may also undergo orthopedic surgery if the condition calls for the procedure. All interventions depend on the severity of the patient's condition. There is a possibility for patients undergoing treatment to have normal cognition and speech as well as functional mobility that could lead to an independent and productive lifestyle.
Symptoms and Signs:
Those affected with the condition have lmb contractures from birth, suffer from limited eye movement. They also experience reduced vision, pigmented macula, and retinal folds.
Causes:
There is no known cause of the condition. However, certain mechanisms are suspected such as hyperthermia of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities.
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