Condition AZ: m

The majority of tumours in MEN I are slow growing and benign (non-cancerous). They can affect:

• Parathyroid gland – controls calcium in the blood, bones and urine. Hyperparathyroidism (over-activity of the parathyroid gland) is associated with high levels of calcium in the blood (hypercalcaemia). This can cause tiredness, weakness, muscle or bone pain, indigestion, kidney stones or thinning of the bones, poor memory, irritability, ulcers and bone fractures.
• Pancreatic islet cells – release hormones that help with digestion and metabolism of nutrients, such as glucose. Tumours in the pancreatic islet cells are associated with the release of excessive amounts of hormones such as gastrin or insulin. Over-secretion of gastrin is associated with formation of severe ulcers in the stomach and small intestine which may cause severe vomiting with blood and/or diarrhoea. If left untreated, these may cause rupture of the stomach or intestine. Over secretion of insulin is associated with a low blood glucose that can cause feeling hungry and sweaty, and if severe then unconsciousness and fits.
• Pituitary gland – plays a critical role in regulating growth and development, metabolism and reproduction. It releases prolactin, growth hormone and other key hormones. Symptoms associated with tumours in the pituitary gland include a loss or irregularity of the menstrual cycle, headaches, high blood pressure and eye problems.
• Adrenal gland – plays a critical role in regulating salt and water balance, and in combatting stress.  It releases steroids and catecholamines (such as adrenaline).  The tumours usually do not release hormones and when they do, these are usually steroids, whose excess results in weight gain and symptoms associated with high blood pressure and diabetes.

Changes (mutations) in a gene on chromosome 11 (known as MEN I) cause MEN I. The condition causes tumours of various glands to appear in the same person, but not necessarily at the same time.

A diagnosis of MEN I is made when either:

• a patient has two or more MEN I associated growths
• a patient has only one growth, but there exists a family history of relatives with MEN I.
• An unaffected individual is found to have a change (mutation) in the MEN1 gene.

Initial screening for most of the tumours associated with MEN I includes the monitoring of hormone levels using blood tests and scans of the head, neck and abdominal area.

Surgery to remove the affected gland is the most effective treatment. Medicines that prevent the release of: prolactin and growth hormone may be used instead of surgery for pituitary tumours; and of gastrin for pancreatic tumours oversecreting gastrin.

Hormone replacement therapy is given when entire glands are removed or do not produce enough hormones.

Inheritance patterns
MEN I is inherited as an autosomal dominant trait. Affected families should be referred to a genetics centre for information and advice.

Prenatal diagnosis
This is possible if the genetic mutation in a family has been identified.

AMEND (Association for Multiple Endocrine Neoplasia Disorders)

Tel: 01892 516076
Website: amend.org.uk

The Organisation is a Registered Charity in England and Wales No. 1099796, established in 2002. It is a patient support group run by volunteers for the benefit of everyone affected by multiple endocrine neoplasia disorders and their associated endocrine growths. The Organisation runs a UK research registry and produces patient information with the help of an expert medical advisory team, including information for children. Membership is free and open to patients and health professionals.

Group details last confirmed October 2018.

Society for Mucopolysaccharide Diseases

Tel: 0345 389 9901
Email: mps@mpssociety.org.uk
Website: mpssociety.org.uk

The Society is registered charity in England and Wales No. 1143472, and Scotland No. SC041012. It provides information and support to individuals and families affected by MPS, Fabry and related diseases. 

Group details last reviewed September 2023.

There is no support group for moyamoya 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.

The major features of MWS are:

• moderate-to-severe learning disability
• microcephaly
• seizures (see entry Epilepsy)
• constipation (Hirschsprung’s disease is only present in a minority of patients).

Typical facial features that include:

• deep-set, widely-spaced eyes
• thick eyebrows
• characteristic ear shape with a turned-up ear lobe
• broad nasal tip and short philtrum (the vertical central groove from the nose to the upper lip)
• small open mouth with a highly arched palate
• prominent chin.

Other features that have been observed in individuals with MWS include:

• growth, and developmental delay – speech can be delayed or absent
• failure to thrive in early life
• congenital heart disease (see entry Heart Defects)
• genitourinary anomalies
• eye anomalies
• white patches on the skin
• agenesis of the corpus callosum, which is visible on a magnetic resonance imaging (MRI) scan.

A number of behavioural features have been seen in MWS, these include:

• sociable, happy disposition
• disrupted sleep pattern
• tooth grinding and repetitive movements.

Almost all patients with MWS have a mutation or a deletion of the ZEB2 gene (previously known as the ZFHX1B or SIP1 gene) on chromosome 2q22. Some patients have a chromosome rearrangement which interferes with the function of this gene.

Diagnosis of the Syndrome is made by recognition of the clinical features and identification of a ZFHX1B gene change. Diagnosis of the syndrome has been made on clinical grounds alone in a number of individuals without the gene mutation.

MWS syndrome cannot be cured. Treatment is symptomatic (addressing the symptoms an individual experiences as part of the syndrome) and aimed at maintaining or improving quality of life.

Inheritance patterns
MWS is usually a sporadic disorder although there are rare families where two children have been affected. Genetic advice or counselling is therefore recommended for families.

Prenatal diagnosis
This may be possible in families with an affected child where a genetic change of ZEB2 has previously been identified in which a case of MWS exists.

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.

Children with Moebius syndrome have poor facial expression and eye movement. Sometimes there may be other abnormalities with the mouth, face or limbs. Involvement of other cranial nerves in addition to the sixth and seventh nerves is common.

Occasionally, the fifth, tenth, eleventh and twelfth cranial nerves are involved, resulting in difficulty chewing, swallowing and coughing, which often leads to respiratory (breathing) problems. Some people affect by the condition may have Learning disability or autistic spectrum disorder (see entry Autistic Spectrum disorders). There is also a well documented association between Moebius and Poland syndrome, a disorder where there is absent chest muscle and limb defects present at birth.

It is thought that Moebius syndrome is due to a more general problem of brainstem development. However, other theories, such as disruption of the subclavian (collar bone) artery supply have been considered as possible causes of Moebius syndrome. There are reported cases of two or more affected members in one family suggesting a possible genetic basis to this syndrome. There are also reports of patients with Moebius syndrome and an associated problem with their chromosomes, from this several chromosomal regions are implicated in having a gene, which when changed, is responsible for this condition.

Diagnosis of Moebius syndrome is by the identification of the known features of the condition. There is no definitive test or genetic test to diagnose the condition.

Treatment of Moebius syndrome is designed to reduce the symptoms experienced by a person with the condition. Infants sometimes require special bottles or feeding tubes to maintain sufficient nutrition. Children with Moebius syndrome usually benefit from physical and speech therapy to improve their motor skills and coordination, and to gain better control over speaking and eating, as well as occupational and sensory integration therapies.

There is some evidence of surgery being used to correct limb and jaw deformities. Plastic reconstructive surgery of the face has also been used in some cases. Surgery has been reported to have varied success.

Inheritance patterns
The majority of Moebius syndrome cases are sporadic, meaning that they occur by chance in a family. The inheritance pattern of the condition is not known.

Prenatal diagnosis
Associated features such as limb defects may be diagnosed on ultrasound scans, but there is no reliable form of prenatal diagnosis.

There is no support group for Moebius 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.

The Migraine Trust

Tel: 0808 802 0066
Email: Via website
Website: migrainetrust.org

The Trust is a Registered Charity in England and Wales No. 1081300. It provides information and support to everyone affected by migraine. The Migraine Trust is dedicated to helping people affected by migraine. They are the only UK migraine charity providing information and support, campaigning for awareness and change, and funding and promoting research.

Group details last updated June 2023.

Children and adults who are affected by microcephaly have variable neurological impairments, from very mild learning disability to much more severe problems including feeding difficulties, profound learning disability, epilepsy and other neurological problems such as spasticity (tightness of the muscles) or hypotonia (reduced muscle tone).

Microcephaly is caused by many different conditions that may be genetic or non-genetic in origin. A number of mutations in microcephaly genes have been discovered, but it is still quite rare for any of these to be detected in a single child. At present, the most commonly discovered gene mutations are found in the ASPM and WDR62 genes.

Non-genetic causes include infections contracted by the baby in the womb (intrauterine infections), reduction in blood supply to the developing fetal brain during pregnancy and some post-natal infections or traumas.

Intrauterine infections which can cause microcephaly include cytomegalovirus (CMV), toxoplasmosis  and rubella (German measles).

Rare syndromes which cause disturbed brain development and microcephaly, usually with other physical disabilities, include Cornelia De Lange syndrome, Rubinstein Taybi syndrome and Seckel syndrome.

At or after birth, microcephaly is detected by measuring the head circumference of a baby. Detailed brain imaging, such as a magnetic resonance imaging (MRI) scan, may demonstrate an alteration in brain structure, for example, a decrease in the number and complexity of the folds on the surface of the brain (see entry Cortical Malformations). However, quite frequently, the brain scan appearance simply confirms reduction in overall size of the brain.

It is very likely that the advent of new genetic technologies will permit testing for many different types of genetic microcephaly in the next few years. In the meantime, children who do not have a specific diagnosis or reason for microcephaly, could be eligible for detailed genetic testing that is available via the Deciphering Developmental Disorders research project.

There is at present no treatment that will reverse microcephaly but, as with other central nervous system disorders, treatments may be given to reduce complications such as feeding difficulties, epilepsy or increased muscle tone.

Inheritance patterns
Complexity arises because several different inheritance patterns (autosomal dominant, autosomal recessive, X-chromosome linked, mitochondrial) of genetic microcephaly are possible.

Prenatal diagnosis
It is unusual for genetic microcephaly to be diagnosed by ultrasound scan in early pregnancy, but a reduction in fetal brain growth may be discovered by scans undertaken during the last few months of pregnancy. In the future in many families. DNA-based tests will be available to diagnose genetic microcephaly in early pregnancy.

There is no support for microcephaly in the UK. Cross referrals to other medical information entries on our website are intended to provide relevant support for those particular features of the condition. Organisations identified in those entries do not provide support specifically for microcephaly.

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.

Mind

Helpline: 0300 123 3393
Email: info@mind.org.uk
Website: mind.org.uk

The Organisation is a Registered Charity in England and Wales No. 219830. It provides information and support to anyone experiencing a mental health problem. The Organisation campaigns to improve services, raise awareness and promote understanding. It offers a Legal Advice Service, and has a network of local services across England and Wales.

Group details last reviewed June 2022.

Rethink

Helpline: 0808 801 0525
Email: via website
Website: rethink.org

Rethink is a Registered Charity in England and Wales No. 271028. It provides information and support to anyone affected by mental health problems. Rethink offers mental health services and carer support groups across England. 

Group details last updated June 2022.

Scottish Association for Mental Health (SAMH)

Tel: 0344 800 0550
Email: info@samh.org.uk
Website: samh.org.uk

The Association is a Registered Charity in Scotland No. SC008897. It provides community based services for people with mental health problems in Scotland. 

Group details last updated June 2022.

Support in Mind Scotland

Tel: 0300 323 1545
Email: info@supportinmindscotland.org.uk
Website: supportinmindscotland.org.uk

The Organisation is a Registered Charity in Scotland No. SC013649. It provides information and support to people affected by serious mental illness, including family members, carers and supporters. The Organisation has a network of local support groups and manages drop-in/resource centres across Scotland. 

Group details last updated June 2022.

The Mental Health Foundation

Tel: 020 7803 1100
Website: mentalhealth.org.uk

The Foundation is a Registered Charity in England and Wales No. 801130 and in Scotland No. SC039714, established in 1949. It provides information, carries out research, campaigns and works to improve services for anyone affected by mental health problems. The Foundation for People with Learning Disabilities is also part of this organisation.

Group details last reviewed June 2022.

Young Minds

Helpline: 0808 802 5544
Email: via website
Website: youngminds.org.uk

The Organisation is a Registered Charity in England and Wales No. 1016968. It is committed to improving the emotional wellbeing and mental health of children and young people. The Organisation provides information to professionals, parents and young people through a Parents’ Helpline, online resources, training and development, outreach work and publications.

Group details last updated June 2022.

Meningitis Research Foundation

Helpline: 080 8800 3344
Email: info@meningitis.org
Website: meningitis.org

The Foundation is a Registered Charity in England and Wales No. 1091105. It provides information and support for people affected by meningitis and septicaemia. The Foundation offers a telephone befriending network, local meet ups, and supports research into the prevention, detection and treatment of these diseases. 

Group details last reviewed June 2023.

Meningitis Now

Helpline: 0808 80 10 388
Email: helpline@meningitisnow.org
Website: meningitisnow.org

Meningitis Now is a registered charity in England and Wales No. 803016 and Scotland No. SC037790. They offer local support for the whole family affected by meningitis, whenever that is required and whatever age, through emotional support; home and hospital visits; online support (website and social media); peer support, events (Family Days and Bereavement events); and financial support (Rebuilding Futures Fund).

Group details last reviewed June 2023.

There is no support group for Melorheostosis in the UK. Cross referrals to other medical information entries on 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 Melorheostosis.

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.

The condition in females is characterised by thickening (sclerosis) of a number of bones in the body. This leads to deformity in the bones, especially in the skull, pelvis and long bones of the arms and legs, and short stature. Secondary osteoarthritis may occur. Other features may vary in the child but may include scoliosis, kyphosis (forward curvature) of the spine, and a small rib cage with the ribs distorted in shape. Ear and chest infections are common. Obstructions of the urinary tract are also common, and deafness and cardiac abnormalities have occasionally been described. Cognitive performance is not affected.

Some males have been described with the condition, but confirmation by a molecular diagnostic test has only been reported in three instances.

Melnick-Needles syndrome is caused by mutations in a gene called FLNA on the X chromosome. There are two very common recurrent mutations within this gene that cause the condition, with a small number of other mutations accounting for the rest of the individuals with this condition.

A combination of clinical assessment, radiography and molecular analysis of FLNA is required to make the diagnosis.

Treatment is supportive and based on symptoms. In particular, orthopaedic surgery can be required to preserve or restore function to the spine and affected joints. Jaw distraction can be required to correct micrognathia (undersized jaw), which can otherwise impair breathing.

Inheritance patterns
Most cases are sporadic and caused by a newly arising mutation in FLNA, although occasional transmission of the disorder from mother to child has been described.

Prenatal diagnosis
Prenatal diagnosis is possible using DNA diagnosis.

Melnick Needles Syndrome Support Group

Tel: 01424 217 790

The Group is a support network established in 1994. It provides information and support to individuals and families affected by Melnick-Needles syndrome, and raises awareness of the condition. 

Group details last updated December 2014.

The hallmark feature of McCune-Albright syndrome is premature puberty in females. Early development of breasts and pubic hair and an increased rate of growth are common. Periods may begin in early childhood, and are caused by oestrogens – chemicals secreted into the bloodstream as a result of the formation of ovarian cysts. The cysts and irregular menstrual bleeding may continue into adolescence and adulthood. Many adult women with McCune-Albright syndrome are fertile.

Early sexual development occurs less commonly in males, involving the development of testes, pubic and underarm hair and increased growth rate.

The spectrum of features has broadened to include problems associated with the heart and liver. Individuals can be differently affected by the range and severity of features. Some children may be affected by bone disease in early infancy and have a range of hormonal problems; others may be entirely healthy.

Many individuals with McCune-Albright syndrome have thyroid gland abnormalities including goitre (generalised enlargement) and irregular masses called nodules and cysts. Some individuals show an increased secretion of pituitary growth hormone which causes the coarsening of facial features, enlargement of hands and feet and arthritis. Less commonly, some affected individuals may have the features of Cushing syndrome.

Individuals with McCune-Albright syndrome also have polyostotic fibrous dysplasia (abnormal fibrous tissue growth in many bones). The severity of this is very variable and any bone in the body may be affected. When the polyostotic fibrous dysplasia occurs in weight-bearing bones, such as the femur (upper leg bone), limping, bowing, pain and sometimes fractures may result. If the bones that form the upper jaw and skull are affected, deafness or blindness can result from ‘pinched nerves’ and facial asymmetry. Some children are affected minimally and in others severe bone disease has a permanent effect upon mobility and physical appearance. Hypersecretion from the parathyroid glands (with elevated parathyroid hormone levels and raised serum calcium) may make the bone disease more severe.

Most children with McCune-Albright syndrome have café-au-lait spots (irregular, flat areas of increased skin pigment). These may be extensive and usually have irregular margins. They are different from the café-au-lait spots seen in neurofibromatosis. In dark skinned children, these spots may be difficult to see. The skin pigmentation is not present at birth, but usually from about a month to six weeks of age.

McCune-Albright syndrome is caused by mutations (or changes) in the GNAS1 gene.

Diagnosis is based on the presence of skin pigmentation, premature puberty, and bone disease.

Many of the problems a patient may develop will be dealt with by an endocrinologist with the help of an orthopaedic surgeon to treat bone deformity and fractures.

Inheritance patterns

McCune-Albright syndrome is sporadic (no previous family history).

Prenatal diagnosis

It may be possible to perform chorionic villus sampling (CVS) or amniocentesis during pregnancy. Genetic counselling may be helpful for individuals and families affected by this condition.

Fibrous Dysplasia Support Society (FDSS)

Email: enquiries@fdssuk.org.uk
Website: fdssuk.org.uk

The Society is a support network, established in 2007. It offers support and information to families affected by fibrous dysplasia and McCune-Albright syndrome. The Society runs an annual family conference providing the opportunity to meet other families.

Group details last updated February 2016.

Ménière’s Society

Tel: 01306 876883
Email: info@menieres.org.uk
Website: menieres.org.uk

The Society is a Registered Charity in England and Wales No. 297246.  It provides support to people with vestibular (inner ear) disorders causing dizziness and imbalance. The Society offers information and support to those affected by vestibular conditions and those who care for them, as well as health professionals and the general public. It publishes a magazine three times a year, Spin, offering information on the latest treatments, research and a forum for members to share their experiences. It supports vital research into vestibular disorders.

Group details last reviewed June 2023.

UK Mastocytosis Support Group

Email: mailto::info@ukmasto.org
Website: ukmasto.co.uk

The Group is a Registered Charity in England and Wales No. 1154007. It provides information and support to individuals and families affected by mastocytosis and other mast cell related conditions. The Group holds regular meetings with speakers from the academic and medical professions.

Group details last reviewed June 2023.

The major features of the condition include:

• developmental delay – delay in meeting motor milestones (eg sitting without support and crawling)
• muscle weakness
• early onset cataracts 
• congenital cerebellar ataxia – a movement condition due to underdevelopment and/or malfunctioning of the part of the brain controlling movement (cerebellum) causing unsteadiness and lack of coordination
• dysarthria- problems with speech due to difficulties controlling the tongue and mouth
• short stature (height)
• hypergonadotrophic hypogonadism (underactive sexual organs) causing a lack of development at puberty
• learning disability – in some but not all children.

The extent to which people are affected by the condition varies from person to person.

Changes (mutations) in the SIL1 gene cause MSS. The SIL1 gene provides instructions for producing a protein located in a cell structure called the endoplasmic reticulum. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct shape. The SIL1 protein plays a role in the process of protein folding. Incorrectly folded proteins could accumulate in cells and likely damages and destroys cells in many different parts of the body leading to the symptoms of MSS.

Around a third of people with MSS syndrome do not have identified mutations in the SIL1 gene. In these cases, the cause of the condition is unknown.

MSS is obvious at birth because babies are hypotonic (have muscle weakness). Although the cataracts are not usually present at birth, they can develop quite rapidly in childhood. The diagnosis is usually based on the symptoms observed but eye examinations to confirm cataracts and a magnetic resonance imaging (MRI) scan of the brain can be helpful. SIL1 gene testing can help make a diagnosis, if there is a mutation present. Many other disorders can resemble MSS, so it is essential to be evaluated by a geneticist familiar with MSS and similar conditions.

Treatment of MSS involves alleviating the symptoms a child experiences as much as possible. This can involve, for example, removal of the cataracts through surgery, physical therapy to help movement problems, speech therapy, and adapted educational programs. Hormone replacement therapy is also available if there is hypogonadism – this will help to replace missing hormones and bring on puberty.

Inheritance patterns
MSS is inherited in an autosomal recessive manner.

Prenatal diagnosis 
This is available if the mutation in an affected family has been identified.

Marinesco-Sjogren Syndrome Online Support Network

Email: mss@marinesco-sjogren.org
Website: marinesco-sjogren.org

This small network provides information and support to adults, children and families affected by Marinesco-Sjogren Syndrome. It puts families in touch with one another. The website contains information that is endorsed by medical professionals. 

Group details last updated February 2016.

It is important to note that the range of complications caused by Marfan syndrome, and their severity varies considerably between individuals, even in the same family.

Each family has different manifestations (symptoms) of the condition. These manifestations may include:

Cardiovascular
Aortic aneurysm (ballooning), aortic dissection (tears in the wall of the aorta), and mitral valve prolapse (a heart problem in which the valve that separates the upper and lower chambers of the left side of the heart does not close properly) – sometimes requiring surgical repair. For this reason, each person suspected of Marfan syndrome should have an echocardiogram (which is a harmless ultrasound picture of the heart and big blood vessels). Heart palpitations require an electrocardiogram (ECG) to define the type of arrhythmia, and determine whether medication is required.

Skeletal
Scoliosis or kyphosis (forward bending curvature in the spine) and possibly loose painful joints, protruding or indented chest, long hands, feet, fingers and toes, and flat feet.

Eyes
Myopia (shortsightedness), dislocation of the ocular lens (a part of the eye that allows fine tuning of vision), detachment of the retina (the light-sensitive screen which lines the back of the eye) and glaucoma.

Lungs
Asthma, Pneumothorax (collapse of lung due to air leaking from the lungs into the chest cavity), bronchiectasis and emphysema.

Marfan syndrome is a heritable disorder (meaning that it is passed from parent to child) of connective tissue, which is due to a mutation in the gene for fibrillin-1, located on chromosome 15. Fibrillin-1 is an important protein component of blood vessel walls, heart, eyes, tendons and ligaments, and lungs. Absent or impaired fibrillin-1 results in thinning and increased stretchiness of tissues.

Marfan syndrome is diagnosed when classical signs of weakness in at least two systems (heart, eyes, skeleton) are found. Diagnosis is made on the basis of family history, physical examination including slit lamp examination for possible dislocated lens, and echocardiogram. Linkage to the gene on chromosome 15 may be studied if affected family members in two generations are available.

All aspects of Marfan syndrome are treatable. Beta-blockers are recommended when the aorta is seen to be actively dilating beyond the upper limits of normal on echocardiography. Aortic root replacement is recommended in an adult when aortic root diameter reaches 4.8cm, to avoid tearing of the aortic wall. Arrhythmia affects 40 per cent of patients, and specific medication is available. Dislocated lenses cause shortsightedness, which can be treated with contact lenses or eye glasses. Lenses can be removed, and replaced.

Scoliosis presents in early puberty, and should be closely monitored, as bracing or surgery may be necessary. Loose painful joints may require joint supports, pain relief, arch supports, physiotherapy and limitation of sporting activities.

Inheritance patterns
Marfan syndrome is inherited in an autosomal dominant mode, with one affected parent in 75 per cent of cases. In 25 per cent of cases the condition occurs as the result of a new spontaneous mutation in the causative gene on chromosome 15.

Prenatal diagnosis
Prenatal diagnosis should be discussed with a geneticist prior to pregnancy. If the mutation has been identified in the affected parent, prenatal diagnosis may be offered at 11 weeks of pregnancy. If parents wish to ensure an unaffected baby, preimplantation genetic diagnosis is available privately or through the NHS.

Support for young people with Marfan syndrome is available from CRY (see entry Heart Defects).

The condition is thought to be due to a loss of the normal control of calcium homeostasis in skeletal muscle when exposed to these agents. This results in marked metabolic stimulation which in turn produces the clinical signs of an MH reaction, one of which is a rapid rise in temperature, hence its name.

The clinical diagnosis needs to be confirmed by laboratory testing of living muscle tissue, a muscle biopsy. If the test is positive the patient is provided with full information about MH and the family is offered screening based on the autosomal dominant pattern of inheritance, that is parents, siblings and children of the patient in the first instance. About 40 per cent of families carry one of the 29 RYR1 diagnostic mutations associated with MH. Genetic testing using DNA from blood samples has recently become available as a preliminary screen for suitable families but this will still need to be coordinated through a MH centre.

Patients known to be susceptible to MH or who have a family history of MH must inform any anaesthetist treating them about their condition who can then arrange safe alternative anaesthesia. Advice can be obtained from the MH centre.

The condition does not affect the general health of the patient and previous uneventful general anaesthesia does not exclude MH.

Originally, mortality was 70 to 80 per cent but this is now significantly reduced to two to three per cent due to the improved monitoring facilities in the operating theatre and the availability of dantrolene, the only specific treatment, enabling the reaction to be detected much earlier and successfully treated.

Referral centre

The UK MH referral centre and National MH register is at St James’s University Hospital, Leeds; Tel: 01132 065274/0 (medical emergencies only) or Tel: 0113 2433133 ask for the MH consultant on call.

There is also a European European Malignant Hyperthermia Group (EMHG) composed of 23 MH centres throughout Europe – see their website for details.

There is currently no support group for Malignant Hyperthermia 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.