Leigh's disease Dr Trisha Macnair Leigh's disease is a rare inherited degenerative disorder with many symptoms.

In this article

What is Leigh disease? Symptoms

Causes and risk factors Treatment and recovery

Advice and support

Leigh disease is caused by problems in the mitochondria - the tiny structures that are the 'power stations' in every cell. Mitochondrial diseases are a complex family of disorders with many clinical manifestations. Leigh disease particularly affects the brain and nervous system.

Leigh's disease usually begins in early childhood, between the ages of three months and two years. The first signs are often poor sucking ability, loss of head control, and loss of acquired motor skills or movement. In addition there may be loss of appetite, vomiting, irritability, continuous crying and seizures.

As the disorder progresses, symptoms may also include generalised weakness, lack of muscle tone, episodes of lactic acidosis (the body becomes more acidic than normal) and breathing problems.

Death usually occurs within a few years, although a few children have survived into their teens. In rare cases, Leigh's begins during late adolescence or early adulthood and progression of the disease is slower than the classical form.

Leigh disease is an inherited disease. There are different ways the different types can be inherited:

• By X linked transmission. Boys can inherit it from a mother who carries it. Daughters may inherit the carrier status.
• By autosomal recessive transmission. When both parents carry the gene, there is a 25 per cent chance that each child may be affected.
• By maternal transmission,the mother may be affected and all children are at risk of inheriting the gene.
• It may also occur sporadically.

Diagnosis is made on the basis of the clinical characteristics, abnormalities in biochemistry, and t brain scans. Genetic tests may confirm the abnormal gene in some cases. Prenatal screening may be possible.

There's no cure for Leigh's and treatment is limited and only partially effective. It includes a diet tailored to the individual patient, vitamins such as thiamine or vitamin B1, and physical, occupational and speech therapy.

Drug treatments may be needed for epilepsy, movement problems, and cardiac or renal complications.

Children Living with Inherited Metabolic Diseases (Climb)
Helpline: 0800 652 3181
Email: info.svcs@climb.org.uk
Website: www.climb.org.uk/

This article was last medically reviewed by Dr Orlena Kerek in March 2009