Background Fat oxidation is the process by which fatty acids are broken down to release energy and during times of fasting (where no food is eaten) it provides up to 80 per cent of the body’s energy needs. Fat is a key energy source, but the brain cannot use it directly as a fuel and needs to convert it first to ketones in the liver. Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare inherited disorder where the body cannot metabolise (break down) fat properly. It is the commonest fat oxidation defect affecting 1 in 10,000 in the UK population. Credits Medical text written January 2020 by Dr Mike Champion, Consultant in Paediatric Inherited Metabolic Disease, Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London UK. What are the symptoms? Patients with MCADD are healthy most of the time. However, infections or prolonged fasting can lead to hypoglycaemia (low blood glucose), drowsiness, coma or death. How is it diagnosed? In the UK, infants with MCADD are detected on newborn screening and commenced on treatment prior to the development of symptoms. Further information is available from the National Newborn Screening Programme Centre website. If an infant has difficulty feeding in the first days of life, symptoms can develop before screening occurs. In infants and children presenting with symptoms, the diagnosis is suggested by low glucose in the blood with a poor ketone response (hypoketotic hypoglycaemia). The diagnosis is confirmed with blood tests for acylcarnitines, which demonstrates the level of partially broken down fat in the blood, tests to identify the genetic mutation responsible for MCADD and a urine test to identify organic acids. How is it treated? The main focus of treatment is to prevent low blood sugar developing by avoiding prolonged fasting (eg by making sure that meals are eaten frequently). This is usually only a problem during times of illness such as coughs, colds and tummy upsets. If food cannot be taken due to illness, regular glucose supplements, such as glucose polymer, must be given to the child by mouth. If there is vomiting, bad diarrhoea, refusal to take the glucose supplements or the condition of the child is getting worse, admission to hospital for intravenous glucose (given through a vein) is needed until normal feeding can be reintroduced. Inheritance patterns and prenatal diagnosis Inheritance patterns Autosomal recessive. Genetic advice is available for families with the condition. Prenatal diagnosisPrenatal diagnosis is available. Is there support? Information and support in the UK for medium chain acyl-CoA dehydrogenase deficiency is available from Metabolic Support UK (see entry Inherited Metabolic diseases).
What are the symptoms? Patients with MCADD are healthy most of the time. However, infections or prolonged fasting can lead to hypoglycaemia (low blood glucose), drowsiness, coma or death. How is it diagnosed? In the UK, infants with MCADD are detected on newborn screening and commenced on treatment prior to the development of symptoms. Further information is available from the National Newborn Screening Programme Centre website. If an infant has difficulty feeding in the first days of life, symptoms can develop before screening occurs. In infants and children presenting with symptoms, the diagnosis is suggested by low glucose in the blood with a poor ketone response (hypoketotic hypoglycaemia). The diagnosis is confirmed with blood tests for acylcarnitines, which demonstrates the level of partially broken down fat in the blood, tests to identify the genetic mutation responsible for MCADD and a urine test to identify organic acids. How is it treated? The main focus of treatment is to prevent low blood sugar developing by avoiding prolonged fasting (eg by making sure that meals are eaten frequently). This is usually only a problem during times of illness such as coughs, colds and tummy upsets. If food cannot be taken due to illness, regular glucose supplements, such as glucose polymer, must be given to the child by mouth. If there is vomiting, bad diarrhoea, refusal to take the glucose supplements or the condition of the child is getting worse, admission to hospital for intravenous glucose (given through a vein) is needed until normal feeding can be reintroduced. Inheritance patterns and prenatal diagnosis Inheritance patterns Autosomal recessive. Genetic advice is available for families with the condition. Prenatal diagnosisPrenatal diagnosis is available. Is there support? Information and support in the UK for medium chain acyl-CoA dehydrogenase deficiency is available from Metabolic Support UK (see entry Inherited Metabolic diseases).
What are the symptoms? Patients with MCADD are healthy most of the time. However, infections or prolonged fasting can lead to hypoglycaemia (low blood glucose), drowsiness, coma or death.
How is it diagnosed? In the UK, infants with MCADD are detected on newborn screening and commenced on treatment prior to the development of symptoms. Further information is available from the National Newborn Screening Programme Centre website. If an infant has difficulty feeding in the first days of life, symptoms can develop before screening occurs. In infants and children presenting with symptoms, the diagnosis is suggested by low glucose in the blood with a poor ketone response (hypoketotic hypoglycaemia). The diagnosis is confirmed with blood tests for acylcarnitines, which demonstrates the level of partially broken down fat in the blood, tests to identify the genetic mutation responsible for MCADD and a urine test to identify organic acids.
How is it treated? The main focus of treatment is to prevent low blood sugar developing by avoiding prolonged fasting (eg by making sure that meals are eaten frequently). This is usually only a problem during times of illness such as coughs, colds and tummy upsets. If food cannot be taken due to illness, regular glucose supplements, such as glucose polymer, must be given to the child by mouth. If there is vomiting, bad diarrhoea, refusal to take the glucose supplements or the condition of the child is getting worse, admission to hospital for intravenous glucose (given through a vein) is needed until normal feeding can be reintroduced.
Inheritance patterns and prenatal diagnosis Inheritance patterns Autosomal recessive. Genetic advice is available for families with the condition. Prenatal diagnosisPrenatal diagnosis is available.
Is there support? Information and support in the UK for medium chain acyl-CoA dehydrogenase deficiency is available from Metabolic Support UK (see entry Inherited Metabolic diseases).
Background Myasthenia gravis (MG) is an autoimmune disease, usually caused by antibodies that attack the acetylcholine receptors or a protein called MuSK on voluntary muscle (muscle that we consciously use to move parts of our body). The acetylcholine receptors bind a chemical called acetylcholine, which is an essential message signal released from the nerve ending when we want to tell our muscles to move, for example when we need to walk or open our hand to pick up a pencil or a cup. The loss of these receptors reduces communication between the nerve and the muscle and causes muscle weakness with fatigue. Of the other myasthenic syndromes, Lambert-Eaton Myasthenic syndrome (LEMS) is also an autoimmune disease, caused by antibodies directed at the calcium channels at the nerve terminal on which acetylcholine release is dependent. This results in a decrease in the amount of acetylcholine released by the nerve impulse. In the congenital myasthenic syndromes (CMS) the immunological system is not involved at all. These are inherited genetic conditions in which mutations in a number of genes responsible for producing proteins (currently at least 12) at different sites at the neuromuscular junction interfere with the signals sent from the nerve to the muscle. Most adults have the autoimmune form of the condition, whereas this is much less common in childhood. Consequently, CMS accounts for a relatively greater proportion of children with myasthenia than among adults. Credits Medical text written February 2010 by Doctor Stephanie Robb, Consultant Paediatric Neurologist, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK. What are the symptoms? MG is characterised by fluctuating weakness that becomes worse with increasing effort. Sometimes it affects only the eye muscles (ocular myasthenia) causing double vision and drooping of the eyelids. More commonly, the condition is generalised with weakness variously affecting not only the eye muscles but also the face, throat, neck, trunk, limbs and muscles that are involved in breathing. Some improvement in strength is achieved by rest. Individuals with LEMS also have weakness of the legs and arms and there may also be disturbance of the autonomic nervous system, which can cause dry mouth and constipation. This type of MG is extremely rare in children. CMS causes variable muscle weakness affecting the eyes, face, trunk, limb, breathing and swallowing muscles, which may be present from birth or develop in early childhood. How is it treated? MG usually responds at least partially to treatment with pyridostigmine by mouth, which prolongs the action of acetylcholine at the nerve-muscle junction and makes the muscles stronger. In more severe cases, treatment with steroids and/or other immunosuppressive medications such as azathioprine may be needed to reduce antibody production and improve muscle strength. In generalised MG with antibodies that attack the acetylcholine receptor, a thymectomy (an operation to remove the thymus gland, which is situated behind the breast bone) may help improve muscle strength. Thymectomy is not helpful in MG with MuSK antibodies, LEMS or CMS. LEMS is treated with 3, 4 diaminopyridine (DAP), which enhances acetylcholine release from nerve endings and/or other immunological treatments (not thymectomy). Some CMS respond well to pyridostigmine and 3,4 DAP. However, some subtypes of the condition are made worse by pyridostigmine, so it is important to have a precise genetic diagnosis before treatment, or for medication to be given for the first time in hospital. Salbutamol (albuterol) or ephedrine may be helpful in these cases. Treatment with quinidine or fluoxetine is used for a subtype of CMS called the slow channel syndromes. Adults and children with MG, LEMS and CMS are at risk of life-threatening swallowing and breathing difficulties, particularly with chest infections and should have fast-track access arranged to their local hospital. Temporary supportive care using a breathing machine and/or tube feeding may be needed to aid recovery. Those with repeated breathing problems should also be under the care of a specialist respiratory centre. Inheritance patterns and prenatal diagnosis Inheritance patternsThere is a very weak familial susceptibility to MG and to other autoimmune diseases in the families of patients with MG and LEMS. However all CMS are genetic disorders, most are autosomal recessive, apart from the slow channel syndromes, which are autosomal dominant. It is important to be referred to your regional genetics centre for further information if a CMS is diagnosed. Prenatal diagnosisThis is not applicable to MG and LEMS. Prenatal diagnosis is now possible for CMS families, once the exact genetic fault is identified. Is there support? Myaware (Myasthenia Gravis Association) Helpline: 01332 290 219Email: info@myaware.org Website: myaware.org The Association is a Registered Charity in England and Wales No. 1046443. It provides information and support to people affected by Myasthenia Gravis, Congenital Myasthenic Syndrome and Lambert Eaton Myasthenic Syndrome. Myaware Kids provides support for children with myasthenia and their parents and carers via its active Facebook group, and holds an annual weekend get-together. Group details last updated February 2016.
What are the symptoms? MG is characterised by fluctuating weakness that becomes worse with increasing effort. Sometimes it affects only the eye muscles (ocular myasthenia) causing double vision and drooping of the eyelids. More commonly, the condition is generalised with weakness variously affecting not only the eye muscles but also the face, throat, neck, trunk, limbs and muscles that are involved in breathing. Some improvement in strength is achieved by rest. Individuals with LEMS also have weakness of the legs and arms and there may also be disturbance of the autonomic nervous system, which can cause dry mouth and constipation. This type of MG is extremely rare in children. CMS causes variable muscle weakness affecting the eyes, face, trunk, limb, breathing and swallowing muscles, which may be present from birth or develop in early childhood. How is it treated? MG usually responds at least partially to treatment with pyridostigmine by mouth, which prolongs the action of acetylcholine at the nerve-muscle junction and makes the muscles stronger. In more severe cases, treatment with steroids and/or other immunosuppressive medications such as azathioprine may be needed to reduce antibody production and improve muscle strength. In generalised MG with antibodies that attack the acetylcholine receptor, a thymectomy (an operation to remove the thymus gland, which is situated behind the breast bone) may help improve muscle strength. Thymectomy is not helpful in MG with MuSK antibodies, LEMS or CMS. LEMS is treated with 3, 4 diaminopyridine (DAP), which enhances acetylcholine release from nerve endings and/or other immunological treatments (not thymectomy). Some CMS respond well to pyridostigmine and 3,4 DAP. However, some subtypes of the condition are made worse by pyridostigmine, so it is important to have a precise genetic diagnosis before treatment, or for medication to be given for the first time in hospital. Salbutamol (albuterol) or ephedrine may be helpful in these cases. Treatment with quinidine or fluoxetine is used for a subtype of CMS called the slow channel syndromes. Adults and children with MG, LEMS and CMS are at risk of life-threatening swallowing and breathing difficulties, particularly with chest infections and should have fast-track access arranged to their local hospital. Temporary supportive care using a breathing machine and/or tube feeding may be needed to aid recovery. Those with repeated breathing problems should also be under the care of a specialist respiratory centre. Inheritance patterns and prenatal diagnosis Inheritance patternsThere is a very weak familial susceptibility to MG and to other autoimmune diseases in the families of patients with MG and LEMS. However all CMS are genetic disorders, most are autosomal recessive, apart from the slow channel syndromes, which are autosomal dominant. It is important to be referred to your regional genetics centre for further information if a CMS is diagnosed. Prenatal diagnosisThis is not applicable to MG and LEMS. Prenatal diagnosis is now possible for CMS families, once the exact genetic fault is identified. Is there support? Myaware (Myasthenia Gravis Association) Helpline: 01332 290 219Email: info@myaware.org Website: myaware.org The Association is a Registered Charity in England and Wales No. 1046443. It provides information and support to people affected by Myasthenia Gravis, Congenital Myasthenic Syndrome and Lambert Eaton Myasthenic Syndrome. Myaware Kids provides support for children with myasthenia and their parents and carers via its active Facebook group, and holds an annual weekend get-together. Group details last updated February 2016.
What are the symptoms? MG is characterised by fluctuating weakness that becomes worse with increasing effort. Sometimes it affects only the eye muscles (ocular myasthenia) causing double vision and drooping of the eyelids. More commonly, the condition is generalised with weakness variously affecting not only the eye muscles but also the face, throat, neck, trunk, limbs and muscles that are involved in breathing. Some improvement in strength is achieved by rest. Individuals with LEMS also have weakness of the legs and arms and there may also be disturbance of the autonomic nervous system, which can cause dry mouth and constipation. This type of MG is extremely rare in children. CMS causes variable muscle weakness affecting the eyes, face, trunk, limb, breathing and swallowing muscles, which may be present from birth or develop in early childhood.
How is it treated? MG usually responds at least partially to treatment with pyridostigmine by mouth, which prolongs the action of acetylcholine at the nerve-muscle junction and makes the muscles stronger. In more severe cases, treatment with steroids and/or other immunosuppressive medications such as azathioprine may be needed to reduce antibody production and improve muscle strength. In generalised MG with antibodies that attack the acetylcholine receptor, a thymectomy (an operation to remove the thymus gland, which is situated behind the breast bone) may help improve muscle strength. Thymectomy is not helpful in MG with MuSK antibodies, LEMS or CMS. LEMS is treated with 3, 4 diaminopyridine (DAP), which enhances acetylcholine release from nerve endings and/or other immunological treatments (not thymectomy). Some CMS respond well to pyridostigmine and 3,4 DAP. However, some subtypes of the condition are made worse by pyridostigmine, so it is important to have a precise genetic diagnosis before treatment, or for medication to be given for the first time in hospital. Salbutamol (albuterol) or ephedrine may be helpful in these cases. Treatment with quinidine or fluoxetine is used for a subtype of CMS called the slow channel syndromes. Adults and children with MG, LEMS and CMS are at risk of life-threatening swallowing and breathing difficulties, particularly with chest infections and should have fast-track access arranged to their local hospital. Temporary supportive care using a breathing machine and/or tube feeding may be needed to aid recovery. Those with repeated breathing problems should also be under the care of a specialist respiratory centre.
Inheritance patterns and prenatal diagnosis Inheritance patternsThere is a very weak familial susceptibility to MG and to other autoimmune diseases in the families of patients with MG and LEMS. However all CMS are genetic disorders, most are autosomal recessive, apart from the slow channel syndromes, which are autosomal dominant. It is important to be referred to your regional genetics centre for further information if a CMS is diagnosed. Prenatal diagnosisThis is not applicable to MG and LEMS. Prenatal diagnosis is now possible for CMS families, once the exact genetic fault is identified.
Is there support? Myaware (Myasthenia Gravis Association) Helpline: 01332 290 219Email: info@myaware.org Website: myaware.org The Association is a Registered Charity in England and Wales No. 1046443. It provides information and support to people affected by Myasthenia Gravis, Congenital Myasthenic Syndrome and Lambert Eaton Myasthenic Syndrome. Myaware Kids provides support for children with myasthenia and their parents and carers via its active Facebook group, and holds an annual weekend get-together. Group details last updated February 2016.
If your child is affected by a disability or medical condition we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library. To meet other parents see support groups below or meet other parents online in our closed Facebook group Please see below for reliable medical information on Multiple Sclerosis produced by alternative providers. NHS websitewww.nhs.uk/conditions Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional. Is there support? MS-UK Helpline: 0800 783 0518Email: info@ms-uk.orgWebsite: ms-uk.org.uk MS-UK is a Registered Charity in England and Wales No. 1033731. It provides information and support to anyone affected by multiple sclerosis. Group details last reviewed June 2023. Multiple Sclerosis Society Helpline: 0808 800 8000Email: helpline@mssociety.org.ukWebsite: mssociety.org.uk The Society is a Registered Charity in England and Wales No. 1139257. It provides information and support to people affected by multiple sclerosis. The Society provides practical and financial support including benefits advice, short breaks and home adaptations. Group details last reviewed June 2023.
Is there support? MS-UK Helpline: 0800 783 0518Email: info@ms-uk.orgWebsite: ms-uk.org.uk MS-UK is a Registered Charity in England and Wales No. 1033731. It provides information and support to anyone affected by multiple sclerosis. Group details last reviewed June 2023. Multiple Sclerosis Society Helpline: 0808 800 8000Email: helpline@mssociety.org.ukWebsite: mssociety.org.uk The Society is a Registered Charity in England and Wales No. 1139257. It provides information and support to people affected by multiple sclerosis. The Society provides practical and financial support including benefits advice, short breaks and home adaptations. Group details last reviewed June 2023.
Is there support? MS-UK Helpline: 0800 783 0518Email: info@ms-uk.orgWebsite: ms-uk.org.uk MS-UK is a Registered Charity in England and Wales No. 1033731. It provides information and support to anyone affected by multiple sclerosis. Group details last reviewed June 2023. Multiple Sclerosis Society Helpline: 0808 800 8000Email: helpline@mssociety.org.ukWebsite: mssociety.org.uk The Society is a Registered Charity in England and Wales No. 1139257. It provides information and support to people affected by multiple sclerosis. The Society provides practical and financial support including benefits advice, short breaks and home adaptations. Group details last reviewed June 2023.
Background Multiple epiphyseal dysplasia (MED) is a rare, inherited, skeletal dysplasia caused by a malformation of the growing ends of the long bones. A skeletal dysplasia is a condition of abnormal bone growth or development. The key features of MED are mild-to-moderate short stature and painful joints. It affects both males and females equally and onset is usually during childhood or early adolescence, with most cases diagnosed between the ages of 2 and 10 years. Credits Medical text written October 2005 by Contact a Family. Approved October 2005 by Dr M Wright. Last updated November 2012 by Dr M Wright, Consultant Clinical Geneticist, Institute of Medical Genetics, International Centre for Life, Newcastle upon Tyne, UK. What are the symptoms? The main features of MED may include: a waddling gait (a jerky motion when walking rather than a smooth movement of the lower limbs)pain in the joints and fatigue (tiredness) after exerciseprogressive worsening of pain and joint stiffness and deformityreduced height in adults. In general, intelligence of a person is not affected by MED. Adults with MED are likely to have early onset osteoarthritis, which may lead to the need for early joint replacement. There is a rare form of MED, rMED, that is inherited in a recessive manner due to a change in both copies of a pair of genes. It is characterised by joint pain, malformation of the hands, feet and knees and scoliosis. Stature is usually within the normal range prior to puberty. In adulthood, stature is only slightly diminished and is in the range of 150 to 180 cm. Limitation of ability to move around and carry out everyday tasks, is mild or absent. What are the causes? Mutations (DNA changes) in a number of genes are known to cause MED. About 35 per cent of affected individuals have a mutation of the COMP gene on chromosome 19 while about 15 per cent have mutations in other genes. However, in about 50 per cent, a mutation cannot be identified. How is it diagnosed? A diagnosis of MED will be made on the clinical symptoms a person displays and by assessment of X-rays showing the malformation of the ends of the long bones. Molecular testing (testing of DNA) may also be offered to look for mutations known to cause MED. How is it treated? Treatments are given to reduce the impact of the symptoms of MED an affected person may experience; there is no cure. Control of pain and the limitation of joint destruction that can lead to the development of osteoarthritis are important. A combination of analgesics (pain killing drugs) and physiotherapy including hydrotherapy (doing exercises in a warm water pool) is helpful in many. Referral to a pain specialist and a rheumatologist may also be needed. Weight control and avoiding exercise that causes repetitive strain on affected joints is beneficial. Consultation with an orthopaedic surgeon can determine if certain operations to correct problems with bone are needed. In some cases, total joint replacement may be required. Psychological support may be needed to support a person who is short in stature and finds it affects their mood. Occupational therapy and aids and equipment for the home may be necessary to carry out daily activities. Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal dominant or, rarely, an autosomal recessive form. Affected families should be referred to a genetics centre for information and support. Prenatal diagnosisThis is possible in the case of families affected by MED where the mutation responsible for the condition is known. Testing is by amniocentesis at 16 to 18 weeks or by chorionic villus sampling at ten to 12 weeks. Is there support? Information and support in the UK for multiple epiphyseal dysplasia is provided by the Restricted Growth Association (see entry Restricted Growth).
What are the symptoms? The main features of MED may include: a waddling gait (a jerky motion when walking rather than a smooth movement of the lower limbs)pain in the joints and fatigue (tiredness) after exerciseprogressive worsening of pain and joint stiffness and deformityreduced height in adults. In general, intelligence of a person is not affected by MED. Adults with MED are likely to have early onset osteoarthritis, which may lead to the need for early joint replacement. There is a rare form of MED, rMED, that is inherited in a recessive manner due to a change in both copies of a pair of genes. It is characterised by joint pain, malformation of the hands, feet and knees and scoliosis. Stature is usually within the normal range prior to puberty. In adulthood, stature is only slightly diminished and is in the range of 150 to 180 cm. Limitation of ability to move around and carry out everyday tasks, is mild or absent. What are the causes? Mutations (DNA changes) in a number of genes are known to cause MED. About 35 per cent of affected individuals have a mutation of the COMP gene on chromosome 19 while about 15 per cent have mutations in other genes. However, in about 50 per cent, a mutation cannot be identified. How is it diagnosed? A diagnosis of MED will be made on the clinical symptoms a person displays and by assessment of X-rays showing the malformation of the ends of the long bones. Molecular testing (testing of DNA) may also be offered to look for mutations known to cause MED. How is it treated? Treatments are given to reduce the impact of the symptoms of MED an affected person may experience; there is no cure. Control of pain and the limitation of joint destruction that can lead to the development of osteoarthritis are important. A combination of analgesics (pain killing drugs) and physiotherapy including hydrotherapy (doing exercises in a warm water pool) is helpful in many. Referral to a pain specialist and a rheumatologist may also be needed. Weight control and avoiding exercise that causes repetitive strain on affected joints is beneficial. Consultation with an orthopaedic surgeon can determine if certain operations to correct problems with bone are needed. In some cases, total joint replacement may be required. Psychological support may be needed to support a person who is short in stature and finds it affects their mood. Occupational therapy and aids and equipment for the home may be necessary to carry out daily activities. Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal dominant or, rarely, an autosomal recessive form. Affected families should be referred to a genetics centre for information and support. Prenatal diagnosisThis is possible in the case of families affected by MED where the mutation responsible for the condition is known. Testing is by amniocentesis at 16 to 18 weeks or by chorionic villus sampling at ten to 12 weeks. Is there support? Information and support in the UK for multiple epiphyseal dysplasia is provided by the Restricted Growth Association (see entry Restricted Growth).
What are the symptoms? The main features of MED may include: a waddling gait (a jerky motion when walking rather than a smooth movement of the lower limbs)pain in the joints and fatigue (tiredness) after exerciseprogressive worsening of pain and joint stiffness and deformityreduced height in adults. In general, intelligence of a person is not affected by MED. Adults with MED are likely to have early onset osteoarthritis, which may lead to the need for early joint replacement. There is a rare form of MED, rMED, that is inherited in a recessive manner due to a change in both copies of a pair of genes. It is characterised by joint pain, malformation of the hands, feet and knees and scoliosis. Stature is usually within the normal range prior to puberty. In adulthood, stature is only slightly diminished and is in the range of 150 to 180 cm. Limitation of ability to move around and carry out everyday tasks, is mild or absent.
What are the causes? Mutations (DNA changes) in a number of genes are known to cause MED. About 35 per cent of affected individuals have a mutation of the COMP gene on chromosome 19 while about 15 per cent have mutations in other genes. However, in about 50 per cent, a mutation cannot be identified.
How is it diagnosed? A diagnosis of MED will be made on the clinical symptoms a person displays and by assessment of X-rays showing the malformation of the ends of the long bones. Molecular testing (testing of DNA) may also be offered to look for mutations known to cause MED.
How is it treated? Treatments are given to reduce the impact of the symptoms of MED an affected person may experience; there is no cure. Control of pain and the limitation of joint destruction that can lead to the development of osteoarthritis are important. A combination of analgesics (pain killing drugs) and physiotherapy including hydrotherapy (doing exercises in a warm water pool) is helpful in many. Referral to a pain specialist and a rheumatologist may also be needed. Weight control and avoiding exercise that causes repetitive strain on affected joints is beneficial. Consultation with an orthopaedic surgeon can determine if certain operations to correct problems with bone are needed. In some cases, total joint replacement may be required. Psychological support may be needed to support a person who is short in stature and finds it affects their mood. Occupational therapy and aids and equipment for the home may be necessary to carry out daily activities.
Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal dominant or, rarely, an autosomal recessive form. Affected families should be referred to a genetics centre for information and support. Prenatal diagnosisThis is possible in the case of families affected by MED where the mutation responsible for the condition is known. Testing is by amniocentesis at 16 to 18 weeks or by chorionic villus sampling at ten to 12 weeks.
Is there support? Information and support in the UK for multiple epiphyseal dysplasia is provided by the Restricted Growth Association (see entry Restricted Growth).
Background Multiple endocrine neoplasia type II (MEN II) is rare genetic condition in which tumours (see entry Cancer) develop in one or more of the endocrine glands. Endocrine glands release hormones (chemical messages) into the bloodstream. The endocrine glands most commonly involved include: thyroid glandadrenal glandparathyroid gland Onset of MEN II symptoms may occur at any age. Credits Last updated October 2018 by Professor RV Thakker, Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Oxford, UK. Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional. What are the symptoms? There are three types of MEN II including multiple endocrine neoplasia type IIA (MEN IIA now also called MEN2); multiple endocrine neoplasia type IIB (MEN IIB now also called MEN3) and familial medullary thyroid cancer (FMTC). Multiple endocrine neoplasia type IIAThere are three types of growth that can occur in MEN IIA. These occur in the ‘butterfly-shaped thyroid’ gland in the neck, the parathyroid glands that lie close to or within the thyroid, and in the adrenal glands that sit on top of each kidney. Pheochromocytoma is a rare tumour of adrenal gland tissue. It results in the release of too much epinephrine and norepinephrine, hormones that control heart rate, metabolism, and blood pressure. Although most of the growths are benign (non-cancerous), the growth in the thyroid gland is always cancerous (medullary thyroid cancer or MTC). Multiple endocrine neoplasia type IIBThere are two main growths common to MEN IIB. These occur in the thyroid gland in the neck, and in the adrenal glands that sit on top of each kidney. The growth in the thyroid gland is always cancerous (medullary thyroid cancer or MTC) and is more aggressive in MEN IIB than in the other types of MEN. FMTCis a rare inherited form of cancer of the thyroid gland in the neck (medullary thyroid cancer or MTC). MTC may also occur alone and independently of FMTC/MEN II. What are the causes? The cause of MEN II is a change (mutation) in a gene called RET. This mutation causes many tumours to appear in the same person, but not necessarily at the same time. How is it diagnosed? Genetic testing is used to identify members of a family known to be affected with MEN II.Blood tests for hormone levels as well as scans of the neck are used to check for growths. How is it treated? Surgery is needed to remove pheochromocytoma (rare tumour of adrenal gland tissue). For medullary carcinoma of the thyroid, the thyroid gland and surrounding lymph nodes must be totally removed. Thyroid hormone replacement therapy is given after surgery. If the medullary thyroid carcinoma cannot be removed completely or if it has spread, then medicines that may prevent its growth can be used. If a child is known to carry the RET gene mutation, surgery to remove the thyroid before it becomes cancerous is considered. This should be discussed with a physician and surgeon who are very familiar with this condition. It would be done at an early age (before age 5) in people with known MEN IIA, and before age 12 months in people with MEN IIB. Inheritance patterns and prenatal diagnosis Inheritance patternsAll MEN II subtypes are inherited as an autosomal dominant trait. Affected families should be referred to a genetics centre for information and advice. Prenatal diagnosisThis may be possible if the genetic mutation causing MEN II in a family is known. Is there support? AMEND (Association for Multiple Endocrine Neoplasia Disorders) Tel: 01892 516076Website: 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.
What are the symptoms? There are three types of MEN II including multiple endocrine neoplasia type IIA (MEN IIA now also called MEN2); multiple endocrine neoplasia type IIB (MEN IIB now also called MEN3) and familial medullary thyroid cancer (FMTC). Multiple endocrine neoplasia type IIAThere are three types of growth that can occur in MEN IIA. These occur in the ‘butterfly-shaped thyroid’ gland in the neck, the parathyroid glands that lie close to or within the thyroid, and in the adrenal glands that sit on top of each kidney. Pheochromocytoma is a rare tumour of adrenal gland tissue. It results in the release of too much epinephrine and norepinephrine, hormones that control heart rate, metabolism, and blood pressure. Although most of the growths are benign (non-cancerous), the growth in the thyroid gland is always cancerous (medullary thyroid cancer or MTC). Multiple endocrine neoplasia type IIBThere are two main growths common to MEN IIB. These occur in the thyroid gland in the neck, and in the adrenal glands that sit on top of each kidney. The growth in the thyroid gland is always cancerous (medullary thyroid cancer or MTC) and is more aggressive in MEN IIB than in the other types of MEN. FMTCis a rare inherited form of cancer of the thyroid gland in the neck (medullary thyroid cancer or MTC). MTC may also occur alone and independently of FMTC/MEN II. What are the causes? The cause of MEN II is a change (mutation) in a gene called RET. This mutation causes many tumours to appear in the same person, but not necessarily at the same time. How is it diagnosed? Genetic testing is used to identify members of a family known to be affected with MEN II.Blood tests for hormone levels as well as scans of the neck are used to check for growths. How is it treated? Surgery is needed to remove pheochromocytoma (rare tumour of adrenal gland tissue). For medullary carcinoma of the thyroid, the thyroid gland and surrounding lymph nodes must be totally removed. Thyroid hormone replacement therapy is given after surgery. If the medullary thyroid carcinoma cannot be removed completely or if it has spread, then medicines that may prevent its growth can be used. If a child is known to carry the RET gene mutation, surgery to remove the thyroid before it becomes cancerous is considered. This should be discussed with a physician and surgeon who are very familiar with this condition. It would be done at an early age (before age 5) in people with known MEN IIA, and before age 12 months in people with MEN IIB. Inheritance patterns and prenatal diagnosis Inheritance patternsAll MEN II subtypes are inherited as an autosomal dominant trait. Affected families should be referred to a genetics centre for information and advice. Prenatal diagnosisThis may be possible if the genetic mutation causing MEN II in a family is known. Is there support? AMEND (Association for Multiple Endocrine Neoplasia Disorders) Tel: 01892 516076Website: 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.
What are the symptoms? There are three types of MEN II including multiple endocrine neoplasia type IIA (MEN IIA now also called MEN2); multiple endocrine neoplasia type IIB (MEN IIB now also called MEN3) and familial medullary thyroid cancer (FMTC). Multiple endocrine neoplasia type IIAThere are three types of growth that can occur in MEN IIA. These occur in the ‘butterfly-shaped thyroid’ gland in the neck, the parathyroid glands that lie close to or within the thyroid, and in the adrenal glands that sit on top of each kidney. Pheochromocytoma is a rare tumour of adrenal gland tissue. It results in the release of too much epinephrine and norepinephrine, hormones that control heart rate, metabolism, and blood pressure. Although most of the growths are benign (non-cancerous), the growth in the thyroid gland is always cancerous (medullary thyroid cancer or MTC). Multiple endocrine neoplasia type IIBThere are two main growths common to MEN IIB. These occur in the thyroid gland in the neck, and in the adrenal glands that sit on top of each kidney. The growth in the thyroid gland is always cancerous (medullary thyroid cancer or MTC) and is more aggressive in MEN IIB than in the other types of MEN. FMTCis a rare inherited form of cancer of the thyroid gland in the neck (medullary thyroid cancer or MTC). MTC may also occur alone and independently of FMTC/MEN II.
What are the causes? The cause of MEN II is a change (mutation) in a gene called RET. This mutation causes many tumours to appear in the same person, but not necessarily at the same time.
How is it diagnosed? Genetic testing is used to identify members of a family known to be affected with MEN II.Blood tests for hormone levels as well as scans of the neck are used to check for growths.
How is it treated? Surgery is needed to remove pheochromocytoma (rare tumour of adrenal gland tissue). For medullary carcinoma of the thyroid, the thyroid gland and surrounding lymph nodes must be totally removed. Thyroid hormone replacement therapy is given after surgery. If the medullary thyroid carcinoma cannot be removed completely or if it has spread, then medicines that may prevent its growth can be used. If a child is known to carry the RET gene mutation, surgery to remove the thyroid before it becomes cancerous is considered. This should be discussed with a physician and surgeon who are very familiar with this condition. It would be done at an early age (before age 5) in people with known MEN IIA, and before age 12 months in people with MEN IIB.
Inheritance patterns and prenatal diagnosis Inheritance patternsAll MEN II subtypes are inherited as an autosomal dominant trait. Affected families should be referred to a genetics centre for information and advice. Prenatal diagnosisThis may be possible if the genetic mutation causing MEN II in a family is known.
Is there support? AMEND (Association for Multiple Endocrine Neoplasia Disorders) Tel: 01892 516076Website: 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.