Leigh’s Disease – Causes and Symptoms of Leigh’s Disease

Leigh’s disease is a genetic disorder related to central nervous system. It affects the brain, spinal cord and optic nerves, the parts of central nervous system. This disease condition develops due to problems in mitochondria also called power houses of cells. Leigh’s disorder can be inherited through generations in three different ways which are discussed below. It is a degenerative disorder that produces many symptoms.

Causes of Leigh’s Disease
Leigh’s disease has no specific causes. It is an inherited disorder. It can be inherited by any of the following ways:

  • By autosomal recessive inheritance – If both the parents carry the gene, there is 25% chance of transmitting the disease condition to the child.
  • By X linked inheritance – If the X chromosome of female contains the gene, the male child can inherit the disease and the female child becomes a carrier.
  • By maternal inheritance – The affected female can pass on the disease to all the children. Because in maternal transmission mitochondria are involved that contain the diseased gene. And this gene can be passed on to the children.
  • The disease condition can also transmit sporadically.

Symptoms of Leigh’s Disease
The symptoms of leigh’s disease start appearing at the age of 3 months to 2 years. Central nervous system is worst affected that leads to following signs and symptoms:

  • Difficulty in holding up the head
  • Poor sucking ability
  • Loss of appetite
  • Irritability
  • Vomiting
  • Seizures
  • Continuous crying

As the affected person ages, the symptoms become worse and include:

  • Lack of muscle tone
  • Body weakness
  • Heart problems
  • Lactic acidosis i.e accumulation of lactic acid in the brain and body. This affects kidney functioning and breathing.

Diagnosis of Leigh’s Disease
Leigh’s disease is diagnosed based on the signs and symptoms the child or the infant has. The diagnosis of the disease condition is done based on –

  • Clinical characteristics
  • Abnormalities in biochemistry i.e presence of lactic acidosis or deficiency of pyruvate dehydrogenase
  • Brain scanning
  • Genetic tests to detect the defective gene

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