Leigh's Disease - Signs and Symptoms

Signs and Symptoms

The disease is characterized by movement disorders. In one case review, 22 of 34 patients had evidence of a movement disorder. Dystonia, occurring in 19 patients, was the most common movement disorder. The dystonia was usually multifocal at onset and showed progression in six patients. Rigidity, tremor, chorea, hypokinesia, myoclonus, and tics were also noted (Macaya et al.). As it progresses rapidly, the earliest signs may be poor sucking ability and loss of head control and motor skills. Other symptoms include loss of appetite, vomiting, irritability, continuous crying (in infants), and seizures. A later sign can also be episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. Some children can present with loss of development skills or developmental regression and have often had investigations for failure to thrive. As the disease progresses in adults, it may also cause general weakness, kidney failure, and heart problems. Life expectancy is unpredictable, although survival beyond a few years is uncommon if the first symptoms develop in infancy. Acute fulminating illness of a few days and prolonged survival have been reported.