Prognosis
Course
Lesch-Nyhan disease (LND) patients do not usually develop the ability to walk or sit unsupported.[22] They need help with activities of daily living, such as eating, drinking, and personal hygiene. The hyperkinetic movement disorder is usually considered stable after a few years of age, but pyramidal signs might increase during life. Functional abilities might further decrease as a result of contractures if these cannot be fully prevented.
Life span
Few people with LND live beyond 40 years of age, though patients with mildly affected variants may have a normal lifespan.[3] Despite the use of allopurinol to control hyperuricemia, renal failure or urosepsis may occur, owing to persistent nephrolithiasis. Some patients experience progressive dysphagia, and may die after pneumonia caused by aspiration. Sudden unexpected death is relatively common. When sudden death does occur, respiratory failure from cervical pathology or laryngospasm may be responsible.[65]
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