Condition AZ: l

LUPUS UK

Tel: 01708 731 251
Email: headoffice@lupusuk.org.uk
Website: lupusuk.org.uk

LUPUS UK is a Registered Charity in England and Wales No. 1051610, and Scotland No. SC039682. It provides information and support for people with systemic lupus and discoid lupus and assists those approaching diagnosis. LUPUS UK has regional groups across the UK. 

Group details last reviewed June 2023.

Asthma + Lung UK

Helpline: 0300 222 5800
Email info@asthmaandlung.org.uk
Website: https://asthmaandlung.org.uk

Asthma + Lung UK is a Registered Charity in England and Wales No. 326730. It provides information and support to anyone affected by a lung condition including asthma. They provide advice and support, raise awareness and campaign to change the way that lung health is perceived.

Group details last reviewed December 2023.

STEPS

Helpline: 01925 750 271
Email: info@steps-charity.org.uk
Website: steps-charity.org.uk

STEPS is a Registered Charity in England and Wales No. 1094343. It provides information and support for individuals, families and carers affected by congenital talipes equinovarus, hip dysplasia or any other lower limb condition. 

Group details last reviewed December 2023.

Features of Lowe syndrome include:

• congenital (present at birth) glaucoma
• nystagmus
• opacity of the cornea, the transparent covering of the iris and pupil, due to overgrowth of scar tissue in about half of affected people
• renal tubular dysfunction, which may lead to kidney failure
• learning disability ranging from mild to severe
• behavioural problems
• seizures, affecting about half of the children diagnosed with the syndrome (see entry Epilepsy).

The cause of Lowe syndrome has been identified as mutation of the OCRL1 gene on the X chromosome. Recently, mutations in the same gene have also been found to cause a different syndrome, Dent disease. Patients with Dent disease have similar kidney problems to patients with Lowe syndrome but do not have the other features found in Lowe syndrome. The exact relationship between Lowe syndrome and Dent disease remains to be determined.

Reduction of a specific enzyme is known to be involved in Lowe syndrome, so diagnosis is made by demonstrating the loss of function of this enzyme and can be carried out by a laboratory test. At present, testing to see if people are carriers (carrier status) can be determined clinically by family history and/or, in most cases, upon careful examination of the lenses of the eye for minor characteristic abnormalities. Direct detection to see if people carry the gene mutation that causes Lowe syndrome can be accomplished in some families by testing the DNA itself. The enzyme test in skin samples is not useful for determining the carrier state.

Treatment of many of the features of Lowe syndrome is symptomatic and may include surgical intervention for cataracts. Speech therapists and nurses specialising in feeding problems can often help. Medication may be needed if children have seizures. Although the use of human growth hormone has been used successfully, careful consideration is needed to balance its use against drawbacks. The renal tubular dysfunction, which causes loss of phosphate, acidosis, short stature, and renal rickets, may be treated by phosphate and bicarbonate replacement therapy.

Inheritance patterns
The type of inheritance observed in Lowe syndrome is either X-linked or sporadic (with no other affected family members).

Prenatal diagnosis
Available by direct enzyme testing by chorionic villus sampling (CVS) or amniocentesis. In some affected families, direct testing of the DNA may also be useful for prenatal testing. Prenatal testing should be discussed with a geneticist prior to pregnancy.

Lowe Syndrome Association

Tel: 01383 620 602
Email: info@lowesyndrome.org (International Lowe Syndrome Association)
Website: lowesyndrome.org (International Lowe Syndrome Association)

The Association is part of the International Lowe Syndrome Association based in the USA.  It provides information and support to families affected by Lowe Syndrome, and holds an international conference every two years where family, friends, medical and other professionals gather to exchange ideas and information. 

Group details last updated August 2014.

Lowe Syndrome Trust

Tel: 020 7794 8858
Email: lowetrust@gmail.com
Website: lowetrust.com

The Trust is a Registered Charity in England and Wales No. 1081241. It supports families and initiates and funds medical research into Lowe Syndrome.

Group details last updated December 2014.

The abnormal rhythm can happen at any age and is so fast that the heart cannot pump out blood as well as it should. As a result, the person suddenly faints or passes out during an attack. There may be little or no warning and these episodes are characteristically caused by sudden exercise, fear or noise.  Sometimes the heart spontaneously recovers back to a normal rhythm, but not always, and therefore attacks are potentially life threatening.

Because of its rarity, and because the patient may appear to fit if the loss of blood supply to their brain lasts for sufficient length of time, attacks may be mistaken for the much more common condition of epilepsy.

The electrical instability of the heart arises from abnormal ion (K+/Na+) movement through channels in the cell membrane. These defective channels are coded for by mutations within genes. More than 13 different types have been discovered, each causing slightly different problems for the affected individual patient. These genetic faults (mutations) may arise for the first time in an individual during development or be inherited from one or both of their parents. Family screening is advised, in order to detect and advise anyone who may not know they are at potential risk.

The condition can be diagnosed by recording an ECG that shows a characteristic prolongation of an interval between the onset of excitation and the finish of recovery of the heartbeat; this is known as the QT interval. The exact QT interval is sometimes difficult to measure. In some people with the condition, the QT interval is greatly prolonged and is easy to recognise. In others it can be borderline prolonged and there is uncertainty. In this situation other helpful tests are an exercise test or a 24 hour recording.

Most affected people respond extremely well to beta blocking drugs. For those patients who do not respond well enough or who prove intolerant of beta blockers, a defibrillator can be considered. These devices help to regulate the heart rhythm, and will immediately discharge a small shock to restore the heart to normal in the event of an episode of ventricular tachycardia.

Inheritance patterns
If inherited, long QT syndrome usually arises in an autosomal dominant fashion from one of the parents. Some people can inherit two mutations, and as a result are more likely to have more symptoms.

There is a special type of long QT where an individual has inherited two mutations, and these types of mutation code not only for deficient channels in the heart but also in the inner ear. These individuals are at higher risk from their long QT and are deaf.

Prenatal diagnosis
In those families where the genetic abnormality has been identified, it may be possible to do prenatal genetic tests for that specific mutation.

Information and support in the UK for young people with long QT syndrome is provided by CRY (see entry Heart Defects).

Support and linking in the UK for bereaved families of adults and children who have died as a result of Long QT syndrome is provided by SADS UK (see entry Heart Defects).

British Liver Trust

Helpline: 0800 652 7330
Email: info@britishlivertrust.org.uk
Website: britishlivertrust.org.uk

The Trust is a Registered Charity in England and Wales No. 298858. It provides information and support for everyone affected by liver disease in the UK. 

Group details last reviewed December 2023.

Children’s Liver Disease Foundation (CLDF)

Tel: 0121 212 3839
Email: info@childliverdisease.org
Website: childliverdisease.org

The Foundation is a Registered Charity in England and Wales No. 1067331. It provides an information hub for healthcare professionals and the general public, and a tailored support service for children, young people and young adults with liver disease and their families. CLDF provides services especially for young people aged 11–24 who have a liver condition or who have had a liver transplant.

Group details last updated December 2023.

Where the cause of a liver condition is a metabolic condition, further information and support is available from Metabolic Support UK (see entry Inherited Metabolic diseases).

Symptoms result from the cancers that develop in individuals with LFS. Different members of the same family may develop different cancers and therefore may have varying symptoms due to the wide range of cancers that can occur.

In the majority of families who have been diagnosed with LFS, a mutation can be identified in a gene called TP53. When working correctly, TP53 prevents cells from developing into cancer cells; however, if there is a mutation in TP53, division and growth of cells is uncontrolled and cancers develop.

The diagnosis of LFS is made based on clinical criteria. A cancer geneticist will review the family history of cancer and make a diagnosis of LFS if:

• a sarcoma is found in a person under 45 years of age, and
• this person has a first-degree relative (mother, father, son, daughter, brother or sister) diagnosed with any cancer when younger than 45 years, and
• another first- or second-degree relative (aunt, uncle, grandmother, grandfather, granddaughter or grandson) of the person is diagnosed with any cancer when younger than 45 years or a sarcoma at any age.

Li-Fraumeni Like syndrome (LFL) describes families who share some, but not all of the features listed for LFS. A number of definitions exist to make a diagnosis of LFL, but generally families have an individual with a sarcoma at any age or cancer diagnosed in childhood and at least one other family member diagnosed with a specific LFS associated cancer. Mutations in TP53 are less frequently identified in LFL families.

Mutations in TP53 can also be identified in individuals or families who do not fulfil LFS criteria. At present these individuals are treated the same as an LFS family, but cancer risk in these families may differ from classic LFS families.

Individuals with a TP53 mutation are linked with a specific oncologist or cancer geneticist and offered annual review and/or ‘fast-track’ service for assessment of worrying symptoms.

Treatment of cancers in LFS is determined by the type of cancer involved and may include surgery, chemotherapy or radiotherapy.

Inheritance patterns
LFS is an autosomal dominant condition. If a TP53 mutation has been identified in an individual, other family members can be tested to see if they have inherited the mutation. Children of an individual with a TP53 mutation have a 50 per cent chance of inheriting the mutation.

Prenatal diagnosis
If a TP53 mutation has been identified as the cause of LFS in a family, prenatal diagnosis is possible. A baby can be tested during pregnancy by chorionic villus sampling or amniocentesis. Pre-implantation genetic diagnosis is also available but both these options require careful genetic counselling.

George Pantziarka TP53 Trust

Website: tp53.co.uk

The George Pantziarka TP53 Trust was established in 2012 to provide support to families affected by Li Fraumeni syndrome and encourage research. It runs a website and forum to bring together all those affected by or interested in the condition and provides access to expert medical information. The Trust intends to gain charitable status and to expand the range of activities they undertake.

Group details last updated February 2013.

Blood Cancer UK

Tel: 0808 2080 888
Email: support@bloodcancer.org.uk
Website: bloodcancer.org.uk

Blood Cancer UK is a Registered Charity in England and Wales No. 216032 and in Scotland No. SC037529. It provides information about leukaemia, lymphoma, myeloma, childhood leukaemia and other blood disorders. They have an online community forum which is an online space that enables people to find information, share knowledge and experiences and connect with others affected by blood cancer.

Group details last reviewed June 2023.

Leukaemia CARE

Helpline: 08088 010 444
Email: support@leukaemiacare.org.uk
Website: leukaemiacare.org.uk

Leukaemia CARE is a Registered Charity in England and Wales No. 259483. It provides information and support to anyone affected by blood cancer. It offers a freephone helpline and runs support groups across the UK.

Group details last reviewed June 2023.

Leukaemia Cancer Society

Tel: 020 8374 4821
Email: via website or enquiries@leukaemiacancersociety.org
Website: leukaemiacancersociety.org

The Society is a registered charity in England and Wales No. 1040984. It is dedicated to ensuring that more people with blood cancer survive, have the best possible quality of life and that their families and carers get the information and support they need. The Leukaemia Cancer Society raises money for the recruitment of volunteer bone marrow donors, research, education and patient care.

Group details last reviewed June 2023.

The following organisations also provide support and information to families caring for children with leukaemia (for full contact details see entry Cancer):

• Children’s Cancer and Leukaemia Group (CCLG)
• Kids Cancer Charity
• Young Lives vs Cancer (formerly CLIC Sargent)
• Teenage Cancer Trust
• The Childhood Cancer Parent Alliance.

Other organisations providing support and information covering all types of cancers and leukaemias but not specially geared to children are listed below (for full contact details see entry Cancer):

• Macmillan Cancer Support

Infants with Lesch Nyhan syndrome appear normal at birth but motor delay and low-muscle tone become obvious within the first few months of life. Dystonia and choreoathetosis (involuntary jerky movement of the body) usually develop towards the end of the first year of life. Dystonia is a disorder of muscle tone producing typical contractile spasms or fixed postures, which interfere with movement and speech development.

Feeding difficulties and hiatus hernia (where part of the stomach pushes its way through a hole/tear in the diaphragm) are common.

Most affected individuals have moderate or severe learning difficulties (see entry Learning Disability), although some have low-average intellectual abilities.

A build up of uric acid in the blood and urine results in kidney damage and the production of kidney stones. Some infants have severe kidney problems and may go develop kidney failure.

Self-injurious behaviour is reported in the majority of cases. Biting of the lips, inside of the mouth and tongue or of the fingers is common. This behaviour fluctuates and may be associated with aggressive outbursts towards carers and anxiety and depression in boys.

Affected males inherit a gene mutation on the long arm of the X chromosome (Xq26.1) that results in HPRT deficiency. Females can carry the mutation, but show no symptoms of the condition (are carriers). Sometimes the condition can occur as a result of a new mutation in a family (sporadic).

Diagnosis should be carried out in a specialist centre as it depends on a careful examination of HPRT activity in the blood. Uric acid levels will usually be raised in blood and urine, but levels may be misleading causing missed diagnosis. Nowadays, specific gene testing is carried out to confirm any suspected case.

Allopurinol is a drug used to reduce uric acid production, but the dose must be carefully monitored as too much can produce xanthine, and will cause kidney damage and stones. It is vital to drink plenty of water as well to reduce the possibility of creating kidney stones. Normally this is given with a weak amount of potassium citrate which reduces the risk even further. Dietary advice to reduce the amounts of purine is also vital.

The effectiveness of medication in treating the self-injurious behaviour has been variable, the anticonvulsant gabapentin is felt to be the medicine with greatest potential at present. Behaviour modification techniques can also be helpful in some cases. Stress reduction is viewed as a useful and effective method to help improve behaviour. In younger children, aids may be used to restrict the amount of self-injury that can occur.

Management of muscle tone focuses on oral treatments with baclofen or anti-dystonic agents such as trihexyphenidyl. Treatment with botulinum toxin A injections can also be helpful. There are a few centres in the UK and internationally that are looking at using deep brain stimulation treatment in young people with Lesch Nyhan syndrome. This involves placing small wire implants into the deep part of the brain that works to control the fluidity of movement – the globus pallidus.

Sadly, life expectancy is reduced, but some men are living beyond forty years of age.

Inheritance patterns
The condition is inherited in an X-linked recessive manner. Testing to detect carriers can occur, but is not always accurate. Affected families should be referred to their regional genetics centre for investigation, advice and support.

Prenatal diagnosis
Genetic screening and detection of HPRT deficiency is possible in the first 12 weeks of pregnancy from a sample of cells from the developing baby. Genetic screening can also be provided within a family.

Information and support in the UK for Lesch Nyhan syndrome is provided by PUMPA (see entry Purine and Pyrimidine Metabolic diseases) and Climb (see entry Inherited Metabolic diseases).

The seizures include tonic (generalised stiffening) myoclonic (fast jerks), atypical absences (loss of responsiveness, which may not be complete), partial (stiffening and jerking of one body segment) and generalised (stiffening and jerking of the whole body) tonic−clonic attacks. Very commonly, the seizures also include episodes of non-convulsive status epilepticus, in which the child lapses into a groggy state and may have difficulty with communication (regression), feeding and walking. There are more children and young adults with multiple seizure types and regression than those who precisely fit the above EEG definition and, from the families’ point of view, it is reasonable to include many within the group.

Most children affected have learning difficulties which may vary both in extent and from time to time. A range of psychological problems, including attention deficit (see entry Attention Deficit Hyperactivity disorder and autistic features (see entry Autism Spectrum conditions) are common.

Some are caused by a non-progressive dysplasia (defect of brain formation) which may be surgically treatable or is otherwise scan-negative and requires anti-convulsant treatment.

The diagnosis is made upon the evolution of the condition, its tendency to show regression and the EEG features.

This condition is often resistant to drug treatment and may pose long-term problems with variable and unpredictable levels of functioning. There is a danger that polytherapy (a therapy that uses more than one type of drug) may cause more problems. A small number of children show a milder and self-limiting pattern. The condition may occur in a child with normal or slow early development. Occasionally, surgical treatment may be possible if there is a removable area of brain damage responsible for the seizures or if ‘drop attacks’ are the main seizure type, a corpus callosotomy, i.e. a partial or total division of the two halves of the cerebral hemispheres, may be required.

Inheritance patterns
None has been found.

Prenatal diagnosis
None.

Lennox-Gastaut Support Group

Tel: 01664 454 305
Email: andrew.gibson15@btopenworld.com

The Group offers support and information and links families where possible. It is in contact with over 200 families and healthcare professionals.

Group details last updated December 2014.

The first problems in young children are often poor weight gain and floppiness. Later, common problems include stiffness or tremor, abnormal eye movements and difficulty swallowing. Some patients have impaired vision or seizures. The disease may also affect the part of the brain that controls breathing, causing patients to require artificial ventilation.

Leigh syndrome is caused by changes in the cell’s pathway for producing energy. This process occurs in parts of the cell called mitochondria. The faults can involve several different steps in the energy-producing pathway.

Diagnosis of Leigh syndrome is difficult. Scans usually show changes in parts of the brain called the brainstem and basal ganglia. There also tends to be a high level of a chemical called lactic acid in the fluid round the brain called the cerebrospinal fluid (CSF). Tests on muscle and skin biopsies can usually identify the underlying biochemical abnormality and lead to appropriate molecular tests.

In the vast majority of patients, there is no effective treatment. Supportive measures are important and may include physiotherapy, muscle relaxants and tube feeding through a gastrostomy.

Inheritance patterns
Leigh syndrome can show different patterns of inheritance in different families. The patterns include autosomal recessive inheritance and ‘maternal inheritance’, which is due to mutations in mitochondrial DNA. Other cases are caused by new mutations with a very low recurrence risk.

Prenatal diagnosis
This is available in some cases of Leigh syndrome, but it is not possible in all cases.

Information and support in the UK for Leigh syndrome is provided by Climb (see entry Inherited Metabolic diseases).

There is no support group for Leber’s hereditary optic neuropathy in the UK.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.

There is no support group for Leber’s congenital amaurosis in the UK. Cross referrals to other medical inforrmation entrieson our website are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Leber’s congenital amaurosis.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.

Common causes of learning disability include:

• chromosomal and genetic conditions, such as Down syndrome and fragile X syndrome
• infections, such as toxoplasmosis and congenital rubella (see entry Rubella)
• toxins such as alcohol (see entry Fetal Alcohol Spectrum disorders) and certain medications (see entry Fetal Anti-convulsant syndrome)
• injury or physical trauma, such as road traffic accidents.

For many, the cause of learning disability will not be established.

Usually a learning disability is suspected by a health visitor, community midwife, nursery teacher or children’s doctor (paediatrician). They may test the ability of the child and order medical investigations to ascertain the level and nature of the learning disability and establish a cause. Sometimes the learning disability is identified by a child psychiatrist, clinical psychologist, or educational psychologist if the individual is at school. Parents who are concerned their child may have a learning disability should request an assessment by a paediatrician or psychologist.

Learning disability cannot be cured, but with appropriate supports individuals can go on to lead independent and fulfilling lives. Support may comprise practical aids and equipment to learn new skills or help from family, friends, teachers and volunteers to manage daily life activities. See the “Is there support?” section for organisations that offer support and information. These organisations may run local support groups for people with learning disability and their families. Some individuals with learning disability go on to live in assisted accommodation.

People affected by learning disability are at higher risk of developing mental health problems, such as depression (see entry Depression in Children and Young People) and less often schizophrenia. Assessment and treatment should be offered as necessary. The risks of these conditions developing can be minimised by providing the right psychological, educational and social supports early on.

Children with learning disability may require a statement of special education needs to get extra support in school. This is possible within mainstream schools, though some children benefit from learning in a special school. In almost all instances the child can attend school on a daily basis rather than having to board.

Families with a child who has learning disability may be entitled to supports including financial assistance and help from social services – see our advice and support section. Parents will often wish to establish their legal rights as guardians for their children with learning disability once they have grown up, for example through a lasting power of attorney arrangement.

Inheritance patterns
These will depend upon the underlying cause. If the cause of learning disability is thought to be genetic further information and support is available through regional genetic centres.

Prenatal diagnosis
This may be possible if the underlying genetic cause of the learning disability is known.

ENABLE Scotland

ENABLE Direct: 0300 0200 101
Email: enabledirect@enable.org.uk
Website: enable.org.uk

The Organisation is a Registered Charity in Scotland No. SC009024. It provides information and support for people who have learning disabilities and their families, and runs the helpline ENABLE Direct. 

Group details last updated December 2014.

Mencap

Helpline: 0808 808 1111
Email: help@mencap.org.uk
Website: mencap.org.uk

The Organisation is a Registered Charity in England and Wales No. 222377. It provides information and support for children and adults with learning disabilities and their families, and a range of services across England, Wales and Northern Ireland. 

Group details last updated December 2014.

There is no support group for Larsen syndrome in the UK. Cross referrals to other entries are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Larsen syndrome.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.

LKS have what is known as auditory agnosia, whereby they experience a loss of language understanding, and which also severely limits speech. A wide range of additional symptoms are found, including problems with social communication (see entry Autism Spectrum conditions), a reduction in learning abilities (see entry Learning Disability), and in more than half of cases, difficulties with coordination of walking, feeding and hand function. Many children also have behaviour problems, including impulsivity, hyperactivity, distractibility and behaviour that challenges.

Three quarters of children with LKS also have epileptic seizures (see entry Epilepsy), though a significant minority do not at least initially have obvious seizures. All, however, show epileptic activity on electroencephalogram (EEG) in the central region of the brain (temporal lobe: language reception); this activity is particularly increased during sleep, which is a key symptom of the condition.

The causes of LKS are largely unknown, but it is thought to be due to abnormal electrical activity of the parts of the brain responsible for processing language, particularly the language receptive (Wernicke’s) area.

LKS can be difficult to diagnose if seizures are absent and it is essential that EEGs are used to confirm the high level of epileptic activity in sleep.

Treatment with routine antiepilepsy drugs is usually quite effective in seizure control, but much less so for the encephalopathy (regression related to seizure activity). Corticosteroid drugs are often much more effective and help more than half of those treated and can be continued after an early daily course on a weekly basis.

Occasionally there is a dramatic spontaneous or drug-induced total recovery but, more commonly, problems continue and some long-term impairments persist. Occasionally, surgical treatment by multiple subpial transections (severing horizontal connections controlling seizure spread in the brain; surgical intervention that was developed after research showed that the normal structural organisation of the brain relied on vertical connections) is used. Such treatment requires the accurate identification of the source of seizure activity using a range of neurophysiological techniques, which may include a methohexitol suppression test and magnetoencephalography. The aim of the methohexitol suppression test is to suppress all electrical activity in the brain and then to see in which area of the brain the abnormal electrical activity returns first. This area may be the one that is primarily responsible for the problem.

In those children with multiple communication and behavioural impairments, major educational, medical and care support may be required. The active phase of the condition usually burns out in the early part of the second decade, but may leave the child with long-term disability.

In addition to the above clinical presentation, there are ‘variants’ with a younger age of onset, and some with abnormal MRI scans, which may require different management. There is, as yet, no evidence to regard the more common presentations of autism in the first two years of life as an early type of LKS.

Inheritance patterns
None are known.

Prenatal diagnosis
None.

There is no support group for Landau-Kleffner syndrome in the UK. 

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.