Background Necrotising fasciitis (NF) is a rare infection caused by bacteria and affecting deep tissue under the skin. Risk factors for infection include lowered immunity, eg people with diabetes mellitus, cancer or receiving immunosuppressive treatments. Healthy children whose skin is broken by minor trauma or skin infection such as chicken pox are also at increased risk. Credits Last updated June 2016 by Dr Marina Morgan, Consultant Microbiologist, Royal Devon and Exeter Foundation Trust, Exeter, 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 is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional. What are the symptoms? NF usually affects legs and arms, but can occur anywhere on the body. The pain is usually almost unbearable – totally out of proportion to external signs because the infection begins deep under the skin, spreading along a thin membrane (‘fascial plane’) near to the muscle. Eventually the thin membrane (fascia) dies, causing necrotising (‘death of’) fasciitis (‘inflamed fascia’) and severe deep pain due to swelling and inflammation. As infection rises to the skin surface it causes discolouration which may be pinky-red, bruised or blistery. Very late in the infection numbness and areas of purple/blackness, bloody blisters of dead skin overlie the deeper dead tissue. NF can be difficult to diagnose because initially there is not much to see and it can cause confusing symptoms. Toxins produced by Streptococci and Staphylococci may cause vomiting and diarrhoea- hence easily misdiagnosed as a ‘tummy upset’ or food poisoning. Deep pain without any outward change in the skin is easily blamed on a muscle strain. What are the causes? All bacteria can cause NF, the worst cases being due to Streptococci, (especially S pyogenes, the type of streptococcus usually causing tonsillitis), Staphylococci, Clostridia and Vibrio species. How is it diagnosed? NF is characterised by severe pain out of proportion to what can be seen. Specialised scans, such as magnetic resonance imaging (MRI) or computed tomography (CT) may show deeper tissue changes and suggest the diagnosis of NF, but a quicker and absolute diagnosis is made by opening up the tissues to see how deep the infection is, and whether the deeper tissues and fascia are healthy or not. Usually a small sample of tissue is sent for Gram stain (special staining allowing identification of the bacteria within minutes) and culture (where bacteria are grown and identified). Once the bacteria causing the infection is known, more targeted antibiotic treatment can be prescribed. How is it treated? Treatment for suspected NF should be started immediately. Initially, broad-spectrum antibiotics (antibiotics that can kill a wide range of bacteria) are used together with an antibiotic that will specifically stop toxin production from bacteria (eg clindamycin or linezolid). Surgical removal of infected dead tissue lessens the numbers of bacteria the body has to fight. Another way of inactivating toxins already produced and preventing ‘toxic shock’ and further tissue damage is to use intravenous immunoglobulin (IVIG), which is an injection of antibodies from blood donors. However, IVIG only helps in Streptococcal or Staphylococcal infections, so is not used in all NF cases. Inheritance patterns and prenatal diagnosis Inheritance patternsNone. Prenatal diagnosisNot applicable. Is there support? The Lee Spark NF Foundation Email: via websiteWebsite: nfsuk.org.uk The Foundation is a Registered Charity in England and Wales No. 1088094. It supports medical professionals, families and carers that have been affected by Necrotising Fasciitis and other Streptococcal infections. The Foundation publishes a quarterly newsletter and has a range of information available, including a medical training DVD. Group details last updated June 2016.
What are the symptoms? NF usually affects legs and arms, but can occur anywhere on the body. The pain is usually almost unbearable – totally out of proportion to external signs because the infection begins deep under the skin, spreading along a thin membrane (‘fascial plane’) near to the muscle. Eventually the thin membrane (fascia) dies, causing necrotising (‘death of’) fasciitis (‘inflamed fascia’) and severe deep pain due to swelling and inflammation. As infection rises to the skin surface it causes discolouration which may be pinky-red, bruised or blistery. Very late in the infection numbness and areas of purple/blackness, bloody blisters of dead skin overlie the deeper dead tissue. NF can be difficult to diagnose because initially there is not much to see and it can cause confusing symptoms. Toxins produced by Streptococci and Staphylococci may cause vomiting and diarrhoea- hence easily misdiagnosed as a ‘tummy upset’ or food poisoning. Deep pain without any outward change in the skin is easily blamed on a muscle strain. What are the causes? All bacteria can cause NF, the worst cases being due to Streptococci, (especially S pyogenes, the type of streptococcus usually causing tonsillitis), Staphylococci, Clostridia and Vibrio species. How is it diagnosed? NF is characterised by severe pain out of proportion to what can be seen. Specialised scans, such as magnetic resonance imaging (MRI) or computed tomography (CT) may show deeper tissue changes and suggest the diagnosis of NF, but a quicker and absolute diagnosis is made by opening up the tissues to see how deep the infection is, and whether the deeper tissues and fascia are healthy or not. Usually a small sample of tissue is sent for Gram stain (special staining allowing identification of the bacteria within minutes) and culture (where bacteria are grown and identified). Once the bacteria causing the infection is known, more targeted antibiotic treatment can be prescribed. How is it treated? Treatment for suspected NF should be started immediately. Initially, broad-spectrum antibiotics (antibiotics that can kill a wide range of bacteria) are used together with an antibiotic that will specifically stop toxin production from bacteria (eg clindamycin or linezolid). Surgical removal of infected dead tissue lessens the numbers of bacteria the body has to fight. Another way of inactivating toxins already produced and preventing ‘toxic shock’ and further tissue damage is to use intravenous immunoglobulin (IVIG), which is an injection of antibodies from blood donors. However, IVIG only helps in Streptococcal or Staphylococcal infections, so is not used in all NF cases. Inheritance patterns and prenatal diagnosis Inheritance patternsNone. Prenatal diagnosisNot applicable. Is there support? The Lee Spark NF Foundation Email: via websiteWebsite: nfsuk.org.uk The Foundation is a Registered Charity in England and Wales No. 1088094. It supports medical professionals, families and carers that have been affected by Necrotising Fasciitis and other Streptococcal infections. The Foundation publishes a quarterly newsletter and has a range of information available, including a medical training DVD. Group details last updated June 2016.
What are the symptoms? NF usually affects legs and arms, but can occur anywhere on the body. The pain is usually almost unbearable – totally out of proportion to external signs because the infection begins deep under the skin, spreading along a thin membrane (‘fascial plane’) near to the muscle. Eventually the thin membrane (fascia) dies, causing necrotising (‘death of’) fasciitis (‘inflamed fascia’) and severe deep pain due to swelling and inflammation. As infection rises to the skin surface it causes discolouration which may be pinky-red, bruised or blistery. Very late in the infection numbness and areas of purple/blackness, bloody blisters of dead skin overlie the deeper dead tissue. NF can be difficult to diagnose because initially there is not much to see and it can cause confusing symptoms. Toxins produced by Streptococci and Staphylococci may cause vomiting and diarrhoea- hence easily misdiagnosed as a ‘tummy upset’ or food poisoning. Deep pain without any outward change in the skin is easily blamed on a muscle strain.
What are the causes? All bacteria can cause NF, the worst cases being due to Streptococci, (especially S pyogenes, the type of streptococcus usually causing tonsillitis), Staphylococci, Clostridia and Vibrio species.
How is it diagnosed? NF is characterised by severe pain out of proportion to what can be seen. Specialised scans, such as magnetic resonance imaging (MRI) or computed tomography (CT) may show deeper tissue changes and suggest the diagnosis of NF, but a quicker and absolute diagnosis is made by opening up the tissues to see how deep the infection is, and whether the deeper tissues and fascia are healthy or not. Usually a small sample of tissue is sent for Gram stain (special staining allowing identification of the bacteria within minutes) and culture (where bacteria are grown and identified). Once the bacteria causing the infection is known, more targeted antibiotic treatment can be prescribed.
How is it treated? Treatment for suspected NF should be started immediately. Initially, broad-spectrum antibiotics (antibiotics that can kill a wide range of bacteria) are used together with an antibiotic that will specifically stop toxin production from bacteria (eg clindamycin or linezolid). Surgical removal of infected dead tissue lessens the numbers of bacteria the body has to fight. Another way of inactivating toxins already produced and preventing ‘toxic shock’ and further tissue damage is to use intravenous immunoglobulin (IVIG), which is an injection of antibodies from blood donors. However, IVIG only helps in Streptococcal or Staphylococcal infections, so is not used in all NF cases.
Inheritance patterns and prenatal diagnosis Inheritance patternsNone. Prenatal diagnosisNot applicable.
Is there support? The Lee Spark NF Foundation Email: via websiteWebsite: nfsuk.org.uk The Foundation is a Registered Charity in England and Wales No. 1088094. It supports medical professionals, families and carers that have been affected by Necrotising Fasciitis and other Streptococcal infections. The Foundation publishes a quarterly newsletter and has a range of information available, including a medical training DVD. Group details last updated June 2016.
Background Narcolepsy is a neurological condition that occurs in about 5 out of 10,000 people. It is caused by the brain’s inability to regulate sleep-wake cycles normally. Affected individuals have an irresistible urge to sleep at different times of the day and often complain of feeling very tired. Narcolepsy is a life-long condition and rarely gets worse through a patient’s life. With drug treatment and support from families, school and work, an affected individual can lead a near to normal life. Credits Medical text written August 2010 by Leena D Mewasingh, Consultant Paediatric Neurologist and Honorary Senior Clinical Lecturer, St Mary’s Hospital, Imperial College Healthcare NHS Trust, London, UK. What are the symptoms? The main symptom in this condition is excessive daytime sleepiness. An affected child or young people can fall asleep at awkward times (eg at school, during meals or during an activity). They can sleep for a few seconds or minutes and occasionally for longer periods such as an hour or so. In addition to excessive daytime sleepiness, narcolepsy is associated with: cataplexy – this is a sudden loss of voluntary muscle tone usually triggered by emotions, laughter being the most commonhypnagogic/hypnopompic hallucinations – these are highly vivid hallucinations, often happening at the onset of sleep (hypnagogic) or on waking up (hypnopompic)sleep paralysis – these are brief episodes of inability to move at the beginning or end of sleep. Automatic behaviour (where individuals carry actions with a certain amount of purpose but don’t remember doing so) is another common occurrence during the day. Presentation of narcolepsy symptoms can vary, which can make this condition difficult to diagnose and often with a significant delay. What are the causes? Although the cause of narcolepsy seems multifactorial, involving both genetic and environmental factors, there is nonetheless a strong link between affected individuals and certain HLA genotypes (combinations of genetic information that code for a protein called human leukocyte antigen). Individuals with narcolepsy have also been shown to have lower levels of a protein called hypocretin in their brain. This protein is responsible for controlling appetite and sleep patterns. How is it diagnosed? A thorough history taking, including sleep and family history and a detailed clinical examination are the first step in making a diagnosis. This then needs confirming with polysomnography (a sleep study), which looks at sleep patterns overnight and a multi-sleep-latency testing (MSLT), which looks at sleep patterns during the day. For more detailed diagnostic criteria for narcolepsy see the proposal by the International Classification of Sleep Disorders. How is it treated? Although there is no cure for narcolepsy, early recognition and treatment can greatly improve the quality of life of patients and decrease the chances of psychological problems as a result of the condition. A selection of drug treatments including modafinil, methylphenidate (trade names Ritalin and Concerta), amphetamine, dextroamphetamine, and a type of antidepressants called selective serotonin reuptake inhibitors (SSRIs) are some of the medications used to treat the excessive daytime sleepiness. Other non-drug based treatments for narcolepsy include taking brief naps, making changes to diet, counselling and behavioural strategies. Whilst these can help, there is often a need for drug treatment too. Inheritance patterns and prenatal diagnosis Inheritance patternsAlthough no specific gene(s) has so far been found in narcolepsy, there is strong evidence that this condition can run in families. Prenatal diagnosisNone. Is there support? Narcolepsy UK Tel: 0345 450 0394Email: info@narcolepsy.org.ukWebsite: narcolepsy.org.uk Narcolepsy UK is a Registered Charity in England and Wales No. 1144342. It provides information and support to people with narcolepsy. Group details last updated February 2016.
What are the symptoms? The main symptom in this condition is excessive daytime sleepiness. An affected child or young people can fall asleep at awkward times (eg at school, during meals or during an activity). They can sleep for a few seconds or minutes and occasionally for longer periods such as an hour or so. In addition to excessive daytime sleepiness, narcolepsy is associated with: cataplexy – this is a sudden loss of voluntary muscle tone usually triggered by emotions, laughter being the most commonhypnagogic/hypnopompic hallucinations – these are highly vivid hallucinations, often happening at the onset of sleep (hypnagogic) or on waking up (hypnopompic)sleep paralysis – these are brief episodes of inability to move at the beginning or end of sleep. Automatic behaviour (where individuals carry actions with a certain amount of purpose but don’t remember doing so) is another common occurrence during the day. Presentation of narcolepsy symptoms can vary, which can make this condition difficult to diagnose and often with a significant delay. What are the causes? Although the cause of narcolepsy seems multifactorial, involving both genetic and environmental factors, there is nonetheless a strong link between affected individuals and certain HLA genotypes (combinations of genetic information that code for a protein called human leukocyte antigen). Individuals with narcolepsy have also been shown to have lower levels of a protein called hypocretin in their brain. This protein is responsible for controlling appetite and sleep patterns. How is it diagnosed? A thorough history taking, including sleep and family history and a detailed clinical examination are the first step in making a diagnosis. This then needs confirming with polysomnography (a sleep study), which looks at sleep patterns overnight and a multi-sleep-latency testing (MSLT), which looks at sleep patterns during the day. For more detailed diagnostic criteria for narcolepsy see the proposal by the International Classification of Sleep Disorders. How is it treated? Although there is no cure for narcolepsy, early recognition and treatment can greatly improve the quality of life of patients and decrease the chances of psychological problems as a result of the condition. A selection of drug treatments including modafinil, methylphenidate (trade names Ritalin and Concerta), amphetamine, dextroamphetamine, and a type of antidepressants called selective serotonin reuptake inhibitors (SSRIs) are some of the medications used to treat the excessive daytime sleepiness. Other non-drug based treatments for narcolepsy include taking brief naps, making changes to diet, counselling and behavioural strategies. Whilst these can help, there is often a need for drug treatment too. Inheritance patterns and prenatal diagnosis Inheritance patternsAlthough no specific gene(s) has so far been found in narcolepsy, there is strong evidence that this condition can run in families. Prenatal diagnosisNone. Is there support? Narcolepsy UK Tel: 0345 450 0394Email: info@narcolepsy.org.ukWebsite: narcolepsy.org.uk Narcolepsy UK is a Registered Charity in England and Wales No. 1144342. It provides information and support to people with narcolepsy. Group details last updated February 2016.
What are the symptoms? The main symptom in this condition is excessive daytime sleepiness. An affected child or young people can fall asleep at awkward times (eg at school, during meals or during an activity). They can sleep for a few seconds or minutes and occasionally for longer periods such as an hour or so. In addition to excessive daytime sleepiness, narcolepsy is associated with: cataplexy – this is a sudden loss of voluntary muscle tone usually triggered by emotions, laughter being the most commonhypnagogic/hypnopompic hallucinations – these are highly vivid hallucinations, often happening at the onset of sleep (hypnagogic) or on waking up (hypnopompic)sleep paralysis – these are brief episodes of inability to move at the beginning or end of sleep. Automatic behaviour (where individuals carry actions with a certain amount of purpose but don’t remember doing so) is another common occurrence during the day. Presentation of narcolepsy symptoms can vary, which can make this condition difficult to diagnose and often with a significant delay.
What are the causes? Although the cause of narcolepsy seems multifactorial, involving both genetic and environmental factors, there is nonetheless a strong link between affected individuals and certain HLA genotypes (combinations of genetic information that code for a protein called human leukocyte antigen). Individuals with narcolepsy have also been shown to have lower levels of a protein called hypocretin in their brain. This protein is responsible for controlling appetite and sleep patterns.
How is it diagnosed? A thorough history taking, including sleep and family history and a detailed clinical examination are the first step in making a diagnosis. This then needs confirming with polysomnography (a sleep study), which looks at sleep patterns overnight and a multi-sleep-latency testing (MSLT), which looks at sleep patterns during the day. For more detailed diagnostic criteria for narcolepsy see the proposal by the International Classification of Sleep Disorders.
How is it treated? Although there is no cure for narcolepsy, early recognition and treatment can greatly improve the quality of life of patients and decrease the chances of psychological problems as a result of the condition. A selection of drug treatments including modafinil, methylphenidate (trade names Ritalin and Concerta), amphetamine, dextroamphetamine, and a type of antidepressants called selective serotonin reuptake inhibitors (SSRIs) are some of the medications used to treat the excessive daytime sleepiness. Other non-drug based treatments for narcolepsy include taking brief naps, making changes to diet, counselling and behavioural strategies. Whilst these can help, there is often a need for drug treatment too.
Inheritance patterns and prenatal diagnosis Inheritance patternsAlthough no specific gene(s) has so far been found in narcolepsy, there is strong evidence that this condition can run in families. Prenatal diagnosisNone.
Is there support? Narcolepsy UK Tel: 0345 450 0394Email: info@narcolepsy.org.ukWebsite: narcolepsy.org.uk Narcolepsy UK is a Registered Charity in England and Wales No. 1144342. It provides information and support to people with narcolepsy. Group details last updated February 2016.
Also known as: Fong’s disease; Hereditary-osteo-onycho-dysplasia; Turner-Kieser syndrome Background Nail-Patella syndrome (NPS) is a rare genetic condition which may cause problems with the nails, kneecaps, elbows, kidneys and glaucoma. Credits Medical text written July 2006 by Dr Elizabeth Sweeney. Last updated November 2012, by Dr Elizabeth Sweeney, Consultant Clinical Geneticist, Royal Liverpool Children’s Hospital, Alder Hey, Liverpool, UK. What are the symptoms? NPS is extremely variable even within members of the same family. Nails may be absent, small, ridged, or separated into two halves by a ridge of skin and the thumbnails are the most severely affected. The patellae (knee caps) may be normal, small, or absent. Dislocation of the patella is common. There may also be early arthritis of the knees. There may be difficulty fully straightening the elbow and X-rays may show abnormalities of the head of the radius bone. There may be pterygia (a web of skin) across the elbow joint. Iliac horns may be visible on an X-ray of the pelvis. These are cone-shaped, bony bumps on the back of the iliac bones, but do not cause any problems. Some affected babies may be born with club foot (see entry Congenital Talipes Equinovarus). Back pain is common in adults with NPS. About half of patients with NPS may have problems with their kidneys ranging from proteinuria (passing protein in the urine), to nephrotic syndrome (proteinuria and swelling), to kidney failure in about 3 per cent of people. Proteinuria may start at any age from birth. Kidney problems may occur for the first time during pregnancy or be made worse by pregnancy and there is an increased chance of preeclampsia (a condition causing high blood in pregnancy). There is an increased risk of glaucoma in NPS and it can occur at a younger age than in the general population. Other problems which are more common in NPS are irritable bowel syndrome, constipation, and poor circulation in the hands and feet with occasional numbness and tingling. What are the causes? The gene which when changed (mutated) causes NPS is called LMX1B. It is located on chromosome 9. How is it diagnosed? The diagnosis is made based on identifying common features during clinical examination, but genetic testing is possible if required. How is it treated? Management of NPS involves treating the symptoms of the condition. Joint problems in NPS may be treated with physiotherapy or surgery where appropriate. Because the joint anatomy is often abnormal in NPS, magnetic resonance imaging (MRI) scanning may be helpful prior to any surgery. Glaucoma can be treated with medication or surgery and kidney failure can be treated with dialysis or kidney transplantation. Inheritance patterns and prenatal diagnosis Inheritance patternsThe inheritance pattern is autosomal dominant. Most people will have inherited the condition from one of their parents but for some people the condition will have started for the first time in them. Children of an affected individual have a 50 per cent chance of inheriting the faulty NPS gene, but the severity cannot be predicted. Prenatal diagnosisDuring a pregnancy, it may be possible to tell whether a baby has inherited the mutated NPS gene by a prenatal test. However, it is not possible to predict how severely the baby would be affected. Ultrasound scans may detect major problems with the limbs (eg club foot), but most of the features of NPS would not be possible to detect on a prenatal ultrasound scan. Is there support? There is no support group for Nail-Patella 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.
What are the symptoms? NPS is extremely variable even within members of the same family. Nails may be absent, small, ridged, or separated into two halves by a ridge of skin and the thumbnails are the most severely affected. The patellae (knee caps) may be normal, small, or absent. Dislocation of the patella is common. There may also be early arthritis of the knees. There may be difficulty fully straightening the elbow and X-rays may show abnormalities of the head of the radius bone. There may be pterygia (a web of skin) across the elbow joint. Iliac horns may be visible on an X-ray of the pelvis. These are cone-shaped, bony bumps on the back of the iliac bones, but do not cause any problems. Some affected babies may be born with club foot (see entry Congenital Talipes Equinovarus). Back pain is common in adults with NPS. About half of patients with NPS may have problems with their kidneys ranging from proteinuria (passing protein in the urine), to nephrotic syndrome (proteinuria and swelling), to kidney failure in about 3 per cent of people. Proteinuria may start at any age from birth. Kidney problems may occur for the first time during pregnancy or be made worse by pregnancy and there is an increased chance of preeclampsia (a condition causing high blood in pregnancy). There is an increased risk of glaucoma in NPS and it can occur at a younger age than in the general population. Other problems which are more common in NPS are irritable bowel syndrome, constipation, and poor circulation in the hands and feet with occasional numbness and tingling. What are the causes? The gene which when changed (mutated) causes NPS is called LMX1B. It is located on chromosome 9. How is it diagnosed? The diagnosis is made based on identifying common features during clinical examination, but genetic testing is possible if required. How is it treated? Management of NPS involves treating the symptoms of the condition. Joint problems in NPS may be treated with physiotherapy or surgery where appropriate. Because the joint anatomy is often abnormal in NPS, magnetic resonance imaging (MRI) scanning may be helpful prior to any surgery. Glaucoma can be treated with medication or surgery and kidney failure can be treated with dialysis or kidney transplantation. Inheritance patterns and prenatal diagnosis Inheritance patternsThe inheritance pattern is autosomal dominant. Most people will have inherited the condition from one of their parents but for some people the condition will have started for the first time in them. Children of an affected individual have a 50 per cent chance of inheriting the faulty NPS gene, but the severity cannot be predicted. Prenatal diagnosisDuring a pregnancy, it may be possible to tell whether a baby has inherited the mutated NPS gene by a prenatal test. However, it is not possible to predict how severely the baby would be affected. Ultrasound scans may detect major problems with the limbs (eg club foot), but most of the features of NPS would not be possible to detect on a prenatal ultrasound scan. Is there support? There is no support group for Nail-Patella 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.
What are the symptoms? NPS is extremely variable even within members of the same family. Nails may be absent, small, ridged, or separated into two halves by a ridge of skin and the thumbnails are the most severely affected. The patellae (knee caps) may be normal, small, or absent. Dislocation of the patella is common. There may also be early arthritis of the knees. There may be difficulty fully straightening the elbow and X-rays may show abnormalities of the head of the radius bone. There may be pterygia (a web of skin) across the elbow joint. Iliac horns may be visible on an X-ray of the pelvis. These are cone-shaped, bony bumps on the back of the iliac bones, but do not cause any problems. Some affected babies may be born with club foot (see entry Congenital Talipes Equinovarus). Back pain is common in adults with NPS. About half of patients with NPS may have problems with their kidneys ranging from proteinuria (passing protein in the urine), to nephrotic syndrome (proteinuria and swelling), to kidney failure in about 3 per cent of people. Proteinuria may start at any age from birth. Kidney problems may occur for the first time during pregnancy or be made worse by pregnancy and there is an increased chance of preeclampsia (a condition causing high blood in pregnancy). There is an increased risk of glaucoma in NPS and it can occur at a younger age than in the general population. Other problems which are more common in NPS are irritable bowel syndrome, constipation, and poor circulation in the hands and feet with occasional numbness and tingling.
What are the causes? The gene which when changed (mutated) causes NPS is called LMX1B. It is located on chromosome 9.
How is it diagnosed? The diagnosis is made based on identifying common features during clinical examination, but genetic testing is possible if required.
How is it treated? Management of NPS involves treating the symptoms of the condition. Joint problems in NPS may be treated with physiotherapy or surgery where appropriate. Because the joint anatomy is often abnormal in NPS, magnetic resonance imaging (MRI) scanning may be helpful prior to any surgery. Glaucoma can be treated with medication or surgery and kidney failure can be treated with dialysis or kidney transplantation.
Inheritance patterns and prenatal diagnosis Inheritance patternsThe inheritance pattern is autosomal dominant. Most people will have inherited the condition from one of their parents but for some people the condition will have started for the first time in them. Children of an affected individual have a 50 per cent chance of inheriting the faulty NPS gene, but the severity cannot be predicted. Prenatal diagnosisDuring a pregnancy, it may be possible to tell whether a baby has inherited the mutated NPS gene by a prenatal test. However, it is not possible to predict how severely the baby would be affected. Ultrasound scans may detect major problems with the limbs (eg club foot), but most of the features of NPS would not be possible to detect on a prenatal ultrasound scan.
Is there support? There is no support group for Nail-Patella 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.
Also known as: Acrofacial Dysostosis In this article What is Nager syndrome? Nager syndrome is a rare genetic condition that affects the development of the face, hands, and arms. Children may have malar hypoplasia (underdeveloped cheek bones), micrognathia (small jaw) and a cleft palate as well as eye problems like coloboma. What are the symptoms of Nager syndrome? Nager syndrome causes small/unusually formed ears, and associated hearing loss. Feeding and breathing problems are common. It is also associated with bone abnormalities in the hands and arms, such as malformed or absent thumbs, fused fingers and short forearms. What are the causes of Nager syndrome? Nager syndrome is caused by faults in a gene called SF3B4, which is an important part of the protein making machinery inside cells. How is Nager syndrome diagnosed? The condition is usually diagnosed based on common features being present. How is Nager syndrome treated? Management of Nager syndrome includes feeding via a tube into the stomach (gastrostomy), and babies may need to have a tracheotomy (surgical opening into the windpipe) to aid breathing. If jaw movement is restricted, an operation to release it may be needed. Nager syndrome usually occurs sporadically (with no family history), but can be inherited. Affected families should be referred to a genetics service for information and support. Is there support for people affected by Nager syndrome and their families? If your child is affected by a medical condition or disability, we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. We also offer emotional support for parents via our Listening Ear service. We have a range of parent guides on aspects of caring for a disabled child in our resource library. You may also find our Early Years Support useful, which contains links to parent carer workshops and help for families going through the diagnosis process. There is no support group for Nager syndrome in the UK. A support group outside of the UK exists for Nager syndrome – please ring our helpline for details. You can also meet other parents online in our closed Facebook group. This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information. Credits Medical text approved January 2012 by Dr Adam Shaw, Contact a Family Medical Advisory Panel.
Also known as: Chorea-acanthocytosis; McLeod syndrome Background The term neuroacanthocytosis refers to a group of rare inherited conditions that result in abnormalities of the nervous system. Key features include abnormal movements (chorea, dystonia) and acanthocytosis (abnormal red blood cells with spur-like projections). The main neuroacanthocytosis disorders are: chorea-acanthocytosisMcLeod syndrome Two other disorders with similar features can also be included in this group, which has caused confusion about the diagnosis in the past: Huntington’s disease-like 2pantothenate kinase-associated neurodegeneration (PKAN) Two additional conditions have acanthocytes and neurological features, but no involuntary movements, and are now not included under this term: abetalipoproteinaemia (Bassen-Kornzweig syndrome)hypobetalipoproteinaemia. Credits Last updated November 2014 by Dr R Walker, Associate Professor of Neurology, Mount Sinai School of Medicine, New York, USA. Chorea-acanthocytosis Also known as: Levine-Critchley syndrome; Neuroacanthocytosis This rare inherited condition usually develops in young adulthood, but occasionally starts in teenage years with tics and obsessive behaviours, accompanied by acanthocytosis – spur-like projections on red blood cells. The condition affects both sexes and occurs in all ethnic backgrounds. About five hundred cases have been reported. What are the symptoms? behaviour changesinvoluntary movements: – chorea – irregular dancing movements – dystonia – more sustained movements with posturing of the limbs, trunk, neck, face – tics. Parkinsonism – slowed movements and stiffness of limbsimpaired swallowing with weight losslip and tongue bitingdifficulty with speechseizures in about halfperipheral neuropathyenlargement of liver and spleen. What are the causes? Mutations in the VPS13A gene on chromosome 9q21. How is it diagnosed? Chorea-acanthocytosis is diagnosed when the typical features are seen, especially facial movements with lip and tongue biting. Not all have acanthocytes, but most will have increased creatine phosphokinase. The diagnosis is made by looking for the affected protein, chorein. One lab in Munich performs clinical tests of VPS13A, but some other labs do this on a research basis. How is it treated? Chorea-acanthocytosis cannot be cured. Treatment is directed at specific symptoms. Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal recessive. Prenatal diagnosisThis may be possible in families already known to be affected. Affected families should be referred to their genetics service for further information and support. Is there support? Advocacy for Neuroacanthocytosis Patients Tel: 020 7460 8874Email: ginger@naadvocacy.orgWebsite: naadvocacy.org The Group is a Registered Charity in England and Wales No. 1133182. It provides information and support to neuroacanthocytosis patients and develops research aimed at alleviation of the disease. The Group has an online forum, and patient advocates who are actively in contact with patients and their families. Group details last updated September 2017. Information and support in the UK for families of children with Hallervordern-Spatz syndrome (pantothenate kinase-associated neurodegeneration) is provided by Climb (see entry Inherited Metabolic diseases). McLeod syndrome Also known as: McLeod Neuroacanthocytosis syndrome McLeod syndrome is a rare inherited condition affecting adult males and involves the brain, neuromuscular system, blood, liver, spleen and heart. About five hundred cases have been reported. What are the symptoms? involuntary movements of the limbs, trunk, neck, face (lip and tongue biting are not typical) Parkinsonismnerve and muscle involvementheart problemsenlarged liver and spleenmental health problems in about 20%seizures in about 40% What are the causes? McLeod syndrome is caused by mutations of the XK gene on the X-chromosome. How is it diagnosed? By looking for the McLeod blood group phenotype (due to proteins on the red blood cells); confirmed by genetic analysis. How is it treated? McLeod syndrome cannot be cured. Medications are given as needed for specific symptoms. Care must be taken if repeated blood transfusions are needed, as transfusion reactions can occur. Banking of the patient’s own blood is recommended. Inheritance patterns and prenatal diagnosis Inheritance patternsX-linked recessive. Prenatal diagnosisThis may be possible in families already known to be affected. Affected families should be referred to their genetics service for further information and support. Is there support? Advocacy for Neuroacanthocytosis Patients Tel: 020 7460 8874Email: ginger@naadvocacy.orgWebsite: naadvocacy.org The Group is a Registered Charity in England and Wales No. 1133182. It provides information and support to neuroacanthocytosis patients and develops research aimed at alleviation of the disease. The Group has an online forum, and patient advocates who are actively in contact with patients and their families. Group details last updated September 2017. Information and support in the UK for families of children with Hallervordern-Spatz syndrome (pantothenate kinase-associated neurodegeneration) is provided by Climb (see entry Inherited Metabolic diseases).
What are the symptoms? behaviour changesinvoluntary movements: – chorea – irregular dancing movements – dystonia – more sustained movements with posturing of the limbs, trunk, neck, face – tics. Parkinsonism – slowed movements and stiffness of limbsimpaired swallowing with weight losslip and tongue bitingdifficulty with speechseizures in about halfperipheral neuropathyenlargement of liver and spleen. What are the causes? Mutations in the VPS13A gene on chromosome 9q21. How is it diagnosed? Chorea-acanthocytosis is diagnosed when the typical features are seen, especially facial movements with lip and tongue biting. Not all have acanthocytes, but most will have increased creatine phosphokinase. The diagnosis is made by looking for the affected protein, chorein. One lab in Munich performs clinical tests of VPS13A, but some other labs do this on a research basis. How is it treated? Chorea-acanthocytosis cannot be cured. Treatment is directed at specific symptoms. Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal recessive. Prenatal diagnosisThis may be possible in families already known to be affected. Affected families should be referred to their genetics service for further information and support. Is there support? Advocacy for Neuroacanthocytosis Patients Tel: 020 7460 8874Email: ginger@naadvocacy.orgWebsite: naadvocacy.org The Group is a Registered Charity in England and Wales No. 1133182. It provides information and support to neuroacanthocytosis patients and develops research aimed at alleviation of the disease. The Group has an online forum, and patient advocates who are actively in contact with patients and their families. Group details last updated September 2017. Information and support in the UK for families of children with Hallervordern-Spatz syndrome (pantothenate kinase-associated neurodegeneration) is provided by Climb (see entry Inherited Metabolic diseases).
What are the symptoms? behaviour changesinvoluntary movements: – chorea – irregular dancing movements – dystonia – more sustained movements with posturing of the limbs, trunk, neck, face – tics. Parkinsonism – slowed movements and stiffness of limbsimpaired swallowing with weight losslip and tongue bitingdifficulty with speechseizures in about halfperipheral neuropathyenlargement of liver and spleen.
How is it diagnosed? Chorea-acanthocytosis is diagnosed when the typical features are seen, especially facial movements with lip and tongue biting. Not all have acanthocytes, but most will have increased creatine phosphokinase. The diagnosis is made by looking for the affected protein, chorein. One lab in Munich performs clinical tests of VPS13A, but some other labs do this on a research basis.
How is it treated? Chorea-acanthocytosis cannot be cured. Treatment is directed at specific symptoms.
Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal recessive. Prenatal diagnosisThis may be possible in families already known to be affected. Affected families should be referred to their genetics service for further information and support.
Is there support? Advocacy for Neuroacanthocytosis Patients Tel: 020 7460 8874Email: ginger@naadvocacy.orgWebsite: naadvocacy.org The Group is a Registered Charity in England and Wales No. 1133182. It provides information and support to neuroacanthocytosis patients and develops research aimed at alleviation of the disease. The Group has an online forum, and patient advocates who are actively in contact with patients and their families. Group details last updated September 2017. Information and support in the UK for families of children with Hallervordern-Spatz syndrome (pantothenate kinase-associated neurodegeneration) is provided by Climb (see entry Inherited Metabolic diseases).
What are the symptoms? involuntary movements of the limbs, trunk, neck, face (lip and tongue biting are not typical) Parkinsonismnerve and muscle involvementheart problemsenlarged liver and spleenmental health problems in about 20%seizures in about 40% What are the causes? McLeod syndrome is caused by mutations of the XK gene on the X-chromosome. How is it diagnosed? By looking for the McLeod blood group phenotype (due to proteins on the red blood cells); confirmed by genetic analysis. How is it treated? McLeod syndrome cannot be cured. Medications are given as needed for specific symptoms. Care must be taken if repeated blood transfusions are needed, as transfusion reactions can occur. Banking of the patient’s own blood is recommended. Inheritance patterns and prenatal diagnosis Inheritance patternsX-linked recessive. Prenatal diagnosisThis may be possible in families already known to be affected. Affected families should be referred to their genetics service for further information and support. Is there support? Advocacy for Neuroacanthocytosis Patients Tel: 020 7460 8874Email: ginger@naadvocacy.orgWebsite: naadvocacy.org The Group is a Registered Charity in England and Wales No. 1133182. It provides information and support to neuroacanthocytosis patients and develops research aimed at alleviation of the disease. The Group has an online forum, and patient advocates who are actively in contact with patients and their families. Group details last updated September 2017. Information and support in the UK for families of children with Hallervordern-Spatz syndrome (pantothenate kinase-associated neurodegeneration) is provided by Climb (see entry Inherited Metabolic diseases).
What are the symptoms? involuntary movements of the limbs, trunk, neck, face (lip and tongue biting are not typical) Parkinsonismnerve and muscle involvementheart problemsenlarged liver and spleenmental health problems in about 20%seizures in about 40%
How is it diagnosed? By looking for the McLeod blood group phenotype (due to proteins on the red blood cells); confirmed by genetic analysis.
How is it treated? McLeod syndrome cannot be cured. Medications are given as needed for specific symptoms. Care must be taken if repeated blood transfusions are needed, as transfusion reactions can occur. Banking of the patient’s own blood is recommended.
Inheritance patterns and prenatal diagnosis Inheritance patternsX-linked recessive. Prenatal diagnosisThis may be possible in families already known to be affected. Affected families should be referred to their genetics service for further information and support.
Is there support? Advocacy for Neuroacanthocytosis Patients Tel: 020 7460 8874Email: ginger@naadvocacy.orgWebsite: naadvocacy.org The Group is a Registered Charity in England and Wales No. 1133182. It provides information and support to neuroacanthocytosis patients and develops research aimed at alleviation of the disease. The Group has an online forum, and patient advocates who are actively in contact with patients and their families. Group details last updated September 2017. Information and support in the UK for families of children with Hallervordern-Spatz syndrome (pantothenate kinase-associated neurodegeneration) is provided by Climb (see entry Inherited Metabolic diseases).