Kyphosis brachyphalangy optic atrophy


Type of disease: Rare conditions

Kyphosis – Brachyphalangy – Optic Atrophy is a disorder characterized by the abnormal rounding of the middle-upper section of the spine (thoracic section), thumb problems, and destruction of the optic nerve. As a result, individuals with this disorder often appear to be hunched over at all times. Individuals may have problems performing basic tasks, such as walking and sitting, and may often experience fatigue. Individuals may also have problems performing tasks involving the hands, due to thumb problems. Additionally, individuals are likely to have lack of vision, further impairing their ability to perform day-to-day tasks. The disorder is often diagnosed in childhood, since symptoms are very apparent. Treatment is based on a case-by-case basis and depends on the specific needs of the patients. Doctors may suggest patients undergo surgery to realign the spine, fix thumb problems. Depending on the severity, the optic nerve may also be repaired surgically. Physical therapists may also create exercise plans for individuals to strengthen their back and spine to prevent further curving of the spine.

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