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Transcript

CAUSES

SYMPTOMS

OVERVIEW

TREATMENT

Leigh Syndrome

Prepared by Tanya Yalovskaya

What is Leigh syndrome (Leigh’s disease)?

Leigh syndrome (also called Leigh’s disease) is a rare genetic condition that affects your child’s central nervous system. A newborn with Leigh syndrome seems healthy at birth. Over time, cells in their nervous system break down or degenerate.

An inherited gene change (mutation) causes Leigh syndrome. It’s a type of mitochondrial disease. Unfortunately, there isn’t a cure.

The types of Leigh syndrome include:

Early-onset (infantile): The most common form of Leigh syndrome appears before age 2.

TYPES

Late-onset (adult-onset): Symptoms appear after age 2 and may not occur until adolescence or early adulthood.

Leigh-like syndrome: A person has some symptoms of Leigh syndrome but imaging scans don’t detect signs of the disease.

SYMPTOMS

Signs of early-onset Leigh syndrome include:

  • Difficulty swallowing (dysphagia), poor sucking or feeding problems.
  • Diarrhea and vomiting.
  • Hypotonia (low muscle tone).
  • Irritability and chronic crying.
  • Poor head control and reflexes.

What causes Leigh syndrome?

  • Autosomal recessive disorder: A child inherits the same gene mutation from each parent. The parents are carriers of the changed gene, but they don’t have the disease.
  • X-linked recessive genetic disorder: A gene change on an X chromosome causes the condition.

How is Leigh syndrome (Leigh’s disease) diagnosed?

DIAGNOSIS

There isn’t a cure for Leigh syndrome. Treatments focus on easing symptoms to keep the child comfortable.

Conclusion

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