EMBARGOED FOR RELEASE UNTIL 4 PM ET, April 09, 2001
Vitamin Treatment Brings Dramatic Improvements in Patients with Rare Muscle Disorder
St. Paul, Minn. -
Researchers have discovered a new treatment for one form of the rare disorder hereditary ataxia that has resulted in remarkable improvements, according to a study in the April 10, 2001 issue of Neurology, the scientific journal of the American Academy of Neurology. "An 8-year-old boy who was confined to a wheelchair was able to walk independently after the treatment, and a 20-year-old woman was able to work outside the home for the first time," said study author and neurologist Salvatore DiMauro, MD, of Columbia University in New York, N.Y. Hereditary ataxia is a genetic neurological disorder that affects coordination. Patients have difficulty with balance, coordination of arms and legs and speech. Some patients also develop seizures. The disease often causes deterioration of the cerebellum, the area of the brain that controls coordination. The researchers discovered that some patients with hereditary ataxia have a decreased level of coenzyme Q10, or CoQ10, in their muscles. CoQ10, also called ubiquinone, is a vitamin-like substance that plays a key role in the production of energy within cells. It is naturally present in small amounts in various foods. For the study, the researchers identified people with hereditary ataxia with no known genetic cause. CoQ10 levels were low among the six patients identified -- about 70 percent lower than normal. The patients were then given daily supplements of CoQ10, ranging from 300 mg to 3,000 mg. "All of the patients improved with the CoQ10," DiMauro said. "They got stronger, their ataxia improved and their seizures either stopped or happened less often." One year after they started taking CoQ10, the patients'' scores improved by an average of 25 percent on an ataxia scale measuring their balance, speech and movement. Five of the patients were unable to walk before receiving CoQ10; after treatment all were able to walk with some assistance, such as a rolling walker. There are many forms of hereditary ataxia, also called hereditary spinocerebellar ataxia, or SCA. These patients did not have the autosomal dominant forms of SCA (SCA1 to SCA5) or Friedreich''s ataxia. "Our findings suggest that CoQ10 deficiency is a potentially important cause of some forms of familial ataxia and it should be considered when diagnosing this condition," DiMauro said. "Where low levels are found, treatment to replace the missing CoQ10 should be aggressive and begin early."