Leigh syndrome

Leigh's disease, Leigh's syndrome, Leigh necrotizing encephalopathy, subacute necrotizing encephalopathy, mitochondrial disease, necrotizing encephalomyelopathy of Leigh's, SNEM

What is Leigh syndrome?

Leigh syndrome is a rare, inherited, degenerative disorder with many different symptoms, which usually becomes apparent in the first year of life.

It is a disease of the mitochondria, which provide energy for nerve cells in the brain and muscles.

What causes Leigh syndrome?

Leigh syndrome may be caused by a deficiency of one or several different enzymes. These enzyme deficiencies are caused by mutations in one of several disease genes.

There is some evidence that these mutations may be inherited as an autosomal recessive trait, an X-linked recessive trait, or as a mutation found within the DNA of mitochondria. Rarely, no genetic cause of Leigh syndrome can be identified.

What are the symptoms of Leigh syndrome?

Symptoms of classical Leigh syndrome usually start in children between the ages of 3 months and two years. The first noticeable symptoms in early onset cases (e.g. 3 months) include poor sucking ability and lack of head control. There may also be a lack of appetite, vomiting, irritability, crying and possible seizures.

If the onset is later in childhood (e.g. 3 years old) a child may struggle articulating words, coordinating movements and previously acquired intellectual skills may diminish.

Progressive neurological deterioration with Leigh syndrome is marked by general weakness, clumsiness, spasms, lack of muscle and lack of reflexes.

Many children with Leigh syndrome will develop respiratory issues. There is also the risk of visual problems such as sluggish pupils, paralysis of certain eye muscles and visual impairments which may result in blindness.

Leigh syndrome may also affect the heart. Some children have abnormal enlargement of the heart, and excess growth of the fibrous membrane that divides the various chambers of the heart.

Are you affected by Leigh syndrome?

If you’re affected by Leigh syndrome, The Brain Charity can support you.

We are the only charity in the UK to be here for every one of the more than 600 different neurological conditions in existence. Individually, many are rare, but combined, they affect 1 in 6 people.

We provide practical help on all aspects of living with Leigh syndrome, emotional support such as counselling, phone befriending and group therapy and social activities to people with Leigh syndrome from all over the UK from our centre in Liverpool.

Looking to talk to someone?

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Phone us

Contact The Brain Charity now

Our friendly Information & Advice Officers are here to help. We endeavour to respond to all enquiries within 10 working days.

0151 298 2999

Looking to talk to someone?

  • Please tell us which neurological condition you are affected by and what you need support with.

Caring for someone affected by Leigh syndrome

We support carers, friends and family too

Are you a carer for or relative of someone with Leigh syndrome? It’s just as important for you to look after your own physical and mental wellbeing too.

The Brain Charity provides free support for carers, friends and family of people with any form of neurological condition, including Leigh syndrome, from anywhere in the UK.

We also run an additional carers advocacy service for all carers in Liverpool, regardless of which type of condition the person they care for has.

You don’t need to be a formal or registered carer

We can help you even if you don’t view yourself as a formal carer or claim Carer’s Allowance. Find out some of the ways we support carers below.

Other resources

The Brain Charity's library

The library at The Brain Charity has a range of resources on Leigh syndrome and a wide range of other disability-related issues.

Support groups

Support groups at The Brain Charity

Are you interested in setting up a Leigh syndrome support group, or do you already run one? Email activities@thebraincharity.org.uk to let us know.

Alternatively, you can check out our list of related support groups here.

Leigh Network Family Group

A Facebook group for anyone affected by a Mitochondrial illness. Find out more here.


Leigh Network Angel Support Group

A Facebook group for mito families who have lost someone to mitochondrial disease.

Join the group here.

Other charities

The Lily Foundation

Helpline: 0300 400 1234

Website: www.thelilyfoundation.org.uk

Email: liz@thelilyfoundation.org.uk

Leigh Network

Helpline: 07902823293

Website: leighnetwork.org.uk

Email: leighnetwork@hotmail.co.uk