Treatment Options For Cockayne Syndrome

Cockayne syndrome is an uncommon disorder that causes delayed development, an irregularly small head size, failure to gain weight, and short stature. Typically, the first symptoms of Cockayne syndrome manifest in a patient's infancy, and progressively get worse as they move into childhood. Cockayne syndrome is caused by mutations in DNA, including the ERCC6 gene or the ERCC8 gene. These genes are responsible for providing instructions on how to repair damage to cellular DNA before they have the chance to result in problems. Symptoms commonly seen in Cockayne syndrome are photosensitivity, loss of vision, hearing loss, bone abnormalities, cold extremities, severe decay of teeth, and abnormalities of the brain tissue that can be observed on diagnostic imaging tests. Diagnosis is made with the use of physical examination, diagnostic imaging, and molecular genetic blood testing.

There are several components to the treatment of Cockayne syndrome. Learn about them now.

Physical Therapy

Common issues that may necessitate physical therapy in individuals with Cockayne syndrome include tremors, gait problems, and issues with coordination. The causes of these neuromotor difficulties include leukodystrophy, demyelinating neuropathy, and cerebellar atrophy. Joint contractures are a type of deformity that occurs when the connective tissues of an individual's body cause stiffness and movement difficulty. Physical therapy has shown to help Cockayne syndrome patients who experience joint contractures to maintain and improve their range of movement. Muscle weakness around the body is also common in Cockayne syndrome and patients may need the help of physical therapy to regain muscle strength and maintain the ability to perform everyday tasks. Some individuals who have Cockayne syndrome develop an abnormal curvature of the back that can make daily tasks difficult. Physical therapy can help alleviate pain and problems with movement that are the result of Cockayne syndrome precipitated scoliosis.

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