<\/span><\/h1>\nAngelman syndrome is rare neurological <\/span>disorder that occurs in 1 in every 15,000 births and in the past, was confused with other disorders such as cerebral<\/span> paralysis or autism. It is marked by a complex training<\/span> of the symptoms<\/p>\n It was named for Dr. Harry Angelman, who first described the disorder in 1965.<\/p>\n
<\/span>Who gets Angelman syndrome?<\/span><\/h2>\nAngelman syndrome is rare:<\/p>\n
\n- Most people with Angelman syndrome have no family history.<\/li>\n
- In a small percentage of cases, the syndrome can be inherited from a parent<\/li>\n
- There are no racial or sexual preferences noted in the medical literature.<\/li>\n<\/ul>\n
<\/span>What causes Angelman syndrome?<\/span><\/h2>\nAngelman syndrome is genetic<\/span> in origin. Genetic changes can be random, that is, without a family history of the disorder.<\/p>\n\n- It is due to the loss of expression of the maternal copy of UBE3A<\/em> gene<\/span> Located in chromosome<\/span> 15q11.2-q13OCA2. <\/li>\n
- The deletion occurs at 65-75%<\/li>\n
- maternal gene mutations<\/span> affect 5\u201311%<\/li>\n
- Paternal uniparental disomy (pUPD, meaning both copies are from the father) affects 3\u20137% <\/li>\n
- Maternal imprinting defect occurs in 3%<\/li>\n<\/ul>\n
Prader-Willi syndrome <\/span>is a clinically distinct disorder due to a paternally derived defect mapped to the same chromosome as Angelman syndrome<\/span>. <\/p>\n\n<\/span>Genetics of Angelman syndrome*<\/span><\/h5>\n<\/section>\n\n\n
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Genetics of Angelman syndrome<\/p>\n<\/p><\/div>\n<\/section>\n
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* Image courtesy of Genetics 4 Medics<\/p>\n
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<\/span>What are the clinical characteristics of Angelman syndrome?<\/span><\/h2>\nCutaneous<\/span> Characteristics of Angelman syndrome include:<\/p>\n\n- \nHypopigmented<\/span> skin<\/li>\n
- \nOcular<\/span> cutaneous albinism\n<\/li>\n
- Choroid deficiency pigment<\/span>\n<\/li>\n
- incomplete melanization of melanosomes<\/span>\n<\/li>\n
- light blue iris<\/li>\n
- Decrease in retinal pigment.<\/li>\n
- Bass hair<\/span> bulb tyrosinase<\/span> exercise<\/li>\n<\/ul>\n
Non-cutaneous features of Angelman syndrome include seizures, developmental delays, limited or no speech, mobility disorders, increased smiling, a happy and excitable personality, hand flapping, abnormal sleep cycles, and microcephaly<\/span>.<\/p>\n<\/span>How is Angelman syndrome treated?<\/span><\/h2>\nThere is no cure for Angelman syndrome. Lifelong care is needed and treatment focuses on controlling symptoms. May include:<\/p>\n
\n- Anticonvulsant medications (including sodium valproate alone or with clonazepam or another benzodiazepine)<\/li>\n
- Communication therapy to instruct children to use sign<\/span> language or images<\/li>\n
- Behavioral therapy to help treat short attention spans and hyperactivity<\/li>\n<\/ul>\n
<\/span>What is the result of Angelman syndrome?<\/span><\/h2>\nDespite many limitations, the life expectancy of patients with Angelman syndrome is normal. Often, patients will become less excitable as they age and outgrow sleep cycle abnormalities. <\/p>\n<\/section>","protected":false},"excerpt":{"rendered":"
\u00bfQu\u00e9 es angelman? s\u00edndrome? El s\u00edndrome de Angelman es raro neurol\u00f3gico trastorno que ocurre en 1 de cada 15,000 nacimientos y en el pasado, fue confundido con otros trastornos como…<\/p>","protected":false},"author":8,"featured_media":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","format":"standard","meta":{"footnotes":""},"categories":[204],"tags":[],"class_list":["post-6948","wiki","type-wiki","status-publish","format-standard","category-glosario-definiciones"],"_links":{"self":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/6948","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki"}],"about":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/types\/wiki"}],"author":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/comments?post=6948"}],"version-history":[{"count":0,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/6948\/revisions"}],"wp:attachment":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/media?parent=6948"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/categories?post=6948"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/tags?post=6948"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}