Leighs Disease

Leigh Syndrome; infantile subacute necrotizing

Inheritance:

Most commonly Autosomal recessive

Inheritance from both parents will result in the disease

Age range at onset:

Age range at onset: Up to 1 year (a small number develop symptoms in adulthood)

Specialists you may see:

Symptoms

The first signs of Leighs Disease are typically diarrhoea, vomiting and swallowing difficulties, resulting in slow growth and failure to thrive. Muscle and movement problems are common, such as ataxia, hypotonia, peripheral neuropathy and dystonia. Some will have distinct facial features.

Ophthalmoparesis and other eye issues such as nystagmus may occur. Acute respiratory failure can be caused if severe breathing problems worsen. Some may also develop hypertrophic cardiomyopathy. Those with Leighs Disease live to be around 6 years old, with some rare cases of survival into teenage years.

Cause

Leighs Disease can be caused by mutations in any of 75 different genes, most of which are involved in energy production in the mitochondria. The mutations which cause Leighs Disease disrupt protein complexes in this process, reducing or preventing their activity.

Rarely, there are two other forms of inheritance; Maternal Inheritance – inheritance in egg cells, and X-Linked Inheritance – inheritance through the X-chromosome.