Angelman Syndrome Symptoms, Causes, and Treatments. Important. It is possible that the main title of the report Angelman Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms. AShappy puppet syndrome (obsolete)Disorder Subdivisions. General Discussion. Summary. Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delays and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements (ataxia); tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits. Angelman syndrome is caused by deletion or abnormal expression of the UBE3. All Disorders. NINDS Binswanger's Disease Information Page; NINDS Brachial Plexus Injuries Information Page; NINDS Brown-Sequard Syndrome Information Page.A gene. Introduction. Angelman syndrome was first described in the medical literature in 1. Dr. Harry Angelman, an English physician. The characteristic findings of Angelman syndrome are not usually apparent at birth and diagnosis of the disorder is usually made between 1 and 4 years of age. Resources. March of Dimes Birth Defects Foundation. Mamaroneck Avenue. White Plains, NY 1. Tel: (9. 14)9. 97- 4. Fax: (9. 14)9. 97- 4. With Down Syndrome: Reprinted from Down Syndrome Quarterly, Volume 4, Number 3, September, 1999: Edited by William I. Dravet syndrome is a rare genetic dysfunction of the brain. It begins in the first year of life in an otherwise healthy infant and is lifelong. Presentation of Case. Juliana Mariani (Pediatrics): A 14-year-old boy was seen in the emergency department of this hospital because of fear of choking while. Prader-Willi syndrome is a rare genetic disorder that results in physical, mental and behavioral problems, including a constant sense of hunger. Tel: (8. 88)6. 63- 4. Email: Askus@marchofdimes. Internet: http: //www. The Arc. 18. 25 K Street NW, Suite 1. Washington, DC 2. Tel: (2. 02)5. 34- 3. Fax: (2. 02)5. 34- 3. Tel: (8. 00)4. 33- 5. TDD: (8. 17)2. 77- 0. Email: info@thearc. Internet: http: //www. Angelman Syndrome Foundation, Inc. Westbrook Drive. Suite 2. Aurora, IL 6. 05. USATel: (6. 30)9. Fax: (6. 30)9. 78- 7. Tel: (8. 00)4. 32- 6. Email: info@angelman. Internet: http: //www. Epilepsy Foundation. Professional Place. Landover, MD 2. 07. Tel: (8. 66)3. 30- 2. Fax: (8. 77)6. 87- 4. Tel: (8. 00)3. 32- 1. TDD: (8. 00)3. 32- 2. Email: Contact. Us@efa. Internet: http: //www. Angelman Syndrome Support Education and Research Trust. PO Box 4. 96. 2Nuneaton, CV1. FDUnited Kingdom. Tel: 0. 30. 09. 99. Email: assert@angelmanuk. Internet: http: //www. NIH/National Institute of Neurological Disorders and Stroke. P. O. Box 5. 80. 1Bethesda, MD 2. Tel: (3. 01)4. 96- 5. Fax: (3. 01)4. 02- 2. Tel: (8. 00)3. 52- 9. TDD: (3. 01)4. 68- 5. Internet: http: //www. Canadian Angelman Syndrome Society. P. O. Box 3. 7Priddis. Alberta, T0. L 1. W0. Canada. Tel: 4. Fax: 4. 03. 93. 12. Email: info@Angelman. Canada. org. Internet: http: //www. NIH/National Institute of Child Health and Human Development. Center Dr. Building 3. Room 2. A3. 2MSC2. Bethesda, MD 2. 08. Fax: (8. 66)7. 60- 5. Tel: (8. 00)3. 70- 2. TDD: (8. 88)3. 20- 6. Email: NICHDInformation. Resource. Center@mail. Internet: http: //www. Genetic and Rare Diseases (GARD) Information Center. PO Box 8. 12. 6Gaithersburg, MD 2. Tel: (3. 01)2. 51- 4. Fax: (3. 01)2. 51- 4. Tel: (8. 88)2. 05- 2. TDD: (8. 88)2. 05- 3. Internet: http: //rarediseases. GARD/Madisons Foundation. PO Box 2. 41. 95. Los Angeles, CA 9. Tel: (3. 10)2. 64- 0. Fax: (3. 10)2. 64- 4. Email: getinfo@madisonsfoundation. Internet: http: //www. Foundation for Angelman Syndrome Therapeutics (FAST)P. O. Box 6. 08. Downers Grove, IL 6. Tel: (6. 30)8. 52- 3. Fax: (6. 30)8. 52- 3. Tel: (8. 66)7. 83- 0. Email: info@Cure. Angelman. org. Internet: http: //www. Cure. Angelman. org. For a Complete Report. This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full- text version of this topic, go to www. Rare Disease Database under . It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians. It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report. This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P. O. Box 1. 96. 8, Danbury, CT 0. Last Updated: 7/9/2. Copyright 1. 98. 7, 1. National Organization for Rare Disorders, Inc. Dravet Syndrome . It begins in the first year of life in an otherwise healthy infant. Prior to 1. 98. 9, this syndrome was known as epilepsy with polymorphic seizures, polymorphic epilepsy in infancy (PMEI), or severe myoclonic epilepsy in infancy (SMEI). The disease begins in infancy but is lifelong. Some more important points: Infants have normal development at the time the seizures begin. Yet as seizures continue, most children develop some level of developmental disability and other conditions associated with the syndrome. It is commonly misdiagnosed. MRI (magnetic resonance imaging) and EEG (electroencephalogram) tests are also normal in infants at first. About 8 out of 1. This mutation is most often not inherited from the parents, but is considered a de novo or . The seizures are refractory or do not respond to seizure medications well in most cases. What is it like? Seizures generally start within the first year of life. The first seizure is often associated with a fever and may be a tonic- clonic seizure (once referred to as a grand mal seizure) or a seizure involving clonic (jerking) movements on one side of the body. Myoclonic seizures (brief shock- like jerks of a muscle or group of muscles) appear between 1 and 5 years in 8. Dravet syndrome. Seizures early in life are often long (lasting more than 2 minutes) or repetitive and can result in status epilepticus, a life- threatening condition. Children with Dravet syndrome can develop many different seizure types. After the first febrile seizure, seizures can happen without a fever. However, these children are very sensitive to infections and frequently have seizures when they are ill or have a fever. Seizures can also be triggered by slight changes in body temperature that are not caused by infection, for example a warm or hot bath water or hot weather. Many children have photosensitive seizures triggered by flashing lights, patterns, or similar photic triggers. Emotional stress or excitement can also trigger seizures in some children. Children usually develop normally in the early years. After age 2, they may lose developmental milestones or not progress as quickly as they get older and have more seizures. There seems to be a correlation between frequency of seizures, how often status epilepticus occurs, and the degree of developmental delay in children. Around 6 years old, cognitive problems in some children may stabilize or start improving. Yet most children with Dravet syndrome have some degree of developmental disability that persists. Other problems that may be seen include. Low motor tone that can lead to painful foot problems. Unsteady walking. Older children and adults may develop a crouched gait. Chronic infections. Low humoral immunity (meaning their body has less ability to create antibodies to fight infection)Growth and nutritional problems. Problems with the autonomic nervous system. Who gets it? It’s not fully known how many people are affected. Reports suggest that 1 in 2. Dravet syndrome. Three to 8% of children who have their first seizure by 1. Dravet syndrome. Seizures lasting more than 1. Dravet syndrome diagnosis. The most common gene mutation linked to Dravet syndrome is in a gene called SCN1. A. When this gene isn’t working properly, sodium channels in the brain (which help brain cells function) do not work correctly. Many other gene mutations can affect sodium channels and cause Dravet syndrome too. A blood test for the mutation can confirm the diagnosis. Sometimes a gene mutation is not found on testing but the syndrome may be diagnosed based on symptoms. Although the first seizure in infants with Dravet syndrome may be near the time of a vaccine, vaccines do not cause Dravet syndrome. Children should get recommended immunizations. How is it treated? Diagnosing the child early is critical to proper treatment and achieving the best outcome. A multidisciplinary team is needed to address the many ways Dravet syndrome can affect a child and their family. Seizure treatment is aimed at finding the best combination of medicines to treat seizures chronically and prevent and treat potential seizure emergencies. Getting the best seizure control possible is the goal. This could also help improve the child’s developmental abilities and decrease mortality risk. Usually 2 or more seizure medications are needed to treat the multiple seizure types. It’s important to avoid medications called sodium channel blockers as these can worsen seizures in Dravet syndrome. This includes phenytoin (Dilantin), fosphenytoin (Cerebyx, Prodilantin), carbamazepine (Tegretol), oxcarbazapine (Trileptal), lamotrigine (Lamictal), and rufinamide (Banzel). Additionally, the medications vigabatrin (Sabril) and tiagabine (Gabatril) may increase the frequency of myoclonic seizures and should be avoided. The ketogenic diet has been helpful in some people with Dravet syndrome. Surgery is not indicated in most people with Dravet syndrome. Vagus nerve stimulation (VNS) may be useful in some children. Open- label and double- blind research trials involving a purified form of cannabidiol (CBD, a part of the cannabis plant) have shown to be helpful in some children with Dravet syndrome. Seizure Response Plans should include how to treat children when they have a fever or illness, use of seizure monitors and alerts, as well as emergency management of prolonged or repeated seizures. Developmental assessments should begin as early as possible. People with Dravet syndrome should receive physical, occupational, speech, and social/play therapies, and an enriched environment is encouraged. What's the outlook? Seizures are refractory to medications. This means that medical treatment is very complicated. Currently available medications are not able to achieve complete seizure control. Other health problems need to be identified and treated early. These also affect a child’s development and outlook for the future. People with epilepsy that is difficult to treat, who have tonic- clonic seizures, who are on multiple seizure medicines, and who have developmental delays have a higher risk of sudden unexpected death in epilepsy (SUDEP). Other causes of mortality associated with Dravet syndrome include consequences of status epilepticus and accidental death from injury or drowning. While the diagnosis and consequences of Dravet syndrome can be catastrophic, the cause is known. Ideally, more research can be targeted to improve treatment and find a cure. Find a clinical trial. Find More Information and Support. Special thanks to Michelle Welborn Pharm. D of ICE Alliance.
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