Louis-Bar Syndrome

Louis-Bar Syndrome, also known as ataxia-telangiectasia (A-T), is a rare disease caused by gene mutation. The symptoms progressively manifest across life stages; these include abnormal head movements during the first two years of life, and difficulties with eye-movement, swallowing, and speech difficulties by age 6 to 7, and trembling of the extremities, irregular muscle contractions, twisting, writhing, and poor coordination by age 9 to 10. They also develop small dilated blood vessels, immune system defects which leads to infections, increased risk for cancer, and growth delay. Management and treatment include speech therapy, physical therapy, medications for the infections, and beta-blockers for the improvement of fine motor skills.

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