About Syndrome, Leigh's (Leigh's Syndrome (Leigh's Disease))

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Learn about the disease, illness and/or condition Syndrome, Leigh's (Leigh's Syndrome (Leigh's Disease)) including: symptoms, causes, treatments, contraindications and conditions at ClusterMed.info.

Syndrome, Leigh's (Leigh's Syndrome (Leigh's Disease))

Syndrome, Leigh's (Leigh's Syndrome (Leigh's Disease))
Syndrome, Leigh's (Leigh's Syndrome (Leigh's Disease))

Syndrome, Leigh's (Leigh's Syndrome (Leigh's Disease)) Information

Clinical trials for Leigh's disease

NIH Patient Recruitment for Leigh's Disease Clinical Trials

  • At NIH Clinical Center
  • Throughout the U.S. and Worldwide
  • NINDS Clinical Research Collaboration Trials

Support for Leigh's disease

Epilepsy Foundation8301 Professional PlaceLandover, MD 20785-7223[email protected]http://www.epilepsyfoundation.orgTel: 301-459-3700 800-EFA-1000 (332-1000)Fax: 301-577-2684 National Organization for Rare Disorders (NORD)P.O. Box 1968(55 Kenosia Avenue)Danbury, CT 06813-1968[email protected]http://www.rarediseases.orgTel: 203-744-0100 Voice Mail 800-999-NORD (6673)Fax: 203-798-2291 United Mitochondrial Disease Foundation8085 Saltsburg RoadSuite 201Pittsburgh, PA 15239[email protected]http://www.umdf.orgTel: 412-793-8077 888-317-UMDF (8633)Fax: 412-793-6477

Are there other forms of Leigh's disease?

There is also a form of Leigh's disease (called X-linked Leigh's disease) which is the result of mutations in a gene that produces another group of substances that are important for cell metabolism. This gene is only found on the X chromosome.

Is there any treatment for Leigh's disease?

The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis. In individuals who have the X-linked form of Leigh's disease, a high-fat, low-carbohydrate diet may be recommended.

What are the symptoms of Leigh's disease?

Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability, and the loss of head control and motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. In Leigh's disease, genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements. The primary function of mitochondria is to convert the energy in glucose and fatty acids into a substance called adenosine triphosphate (ATP). The energy in ATP drives virtually all of a cell's metabolic functions. Genetic mutations in mitochondrial DNA, therefore, result in a chronic lack of energy in these cells, which in turn affects the central nervous system and causes progressive degeneration of motor functions.

What causes Leigh's disease?

Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase.

What is Leigh's Disease?

Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults.

What is the prognosis for Leigh's disease?

The prognosis for individuals with Leigh's disease is poor. Individuals who lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. Some have survived to their mid-teenage years.

What research is being done with Leigh's disease?

The NINDS supports and encourages a broad range of basic and clinical research on neurogenetic disorders such as Leigh's disease. The goal of this research is to understand what causes these disorders and then to apply these findings to new ways to diagnose, treat, and prevent them.

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