[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"doc-seo-533612-105":3,"detail-sidebar-cat-0-en-105":80,"doc-detail-533612-en":130},{"code":4,"msg":5,"data":6},0,"ok",{"site_id":7,"language":8,"slug":9,"title":10,"keywords":11,"description":12,"schema_data":13,"social_meta":73,"head_meta":75,"extra_data":77,"updated_unix":79},105,"en","friedreich-ataxia-educational-objective","Friedreich ataxia - Educational objective","","Friedreich ataxia is an autosomal recessive neurodegenerative disorder that typically presents in adolescence with progressive ataxia and loss of position and vibratory senses. The disease is caused by an excessive trinucleotide repeat expansion, most commonly GAA, in the frataxin gene. Neurologic deficits include dysarthria, limb weakness, loss of deep tendon reflexes, and progressive gait and limb ataxia, with dorsal column involvement. Genetic testing confirms the diagnosis; management is supportive.",{"@graph":14,"@context":72},[15,34,55],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/friedreich-ataxia-educational-objective/533612/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/friedreich-ataxia-educational-objective/533612.png","ImageObject",300,407,{"name":42,"@type":43},"ahduag","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-22","2026-10-10",true,{"@type":52,"interactionType":53,"userInteractionCount":33},"InteractionCounter",{"@type":54},"ViewAction",{"@type":56,"mainEntity":57},"FAQPage",[58,64,68],{"name":59,"@type":60,"acceptedAnswer":61},"What is the typical age and hallmark presentation of Friedreich ataxia?","Question",{"text":62,"@type":63},"It classically presents in adolescence with progressive ataxia. Patients also show loss of position and vibratory senses.","Answer",{"name":65,"@type":60,"acceptedAnswer":66},"What genetic abnormality causes Friedreich ataxia?",{"text":67,"@type":63},"Friedreich ataxia is caused by an excessive number of trinucleotide repeat sequences, most commonly GAA, in the frataxin gene.",{"name":69,"@type":60,"acceptedAnswer":70},"How is Friedreich ataxia diagnosed and managed?",{"text":71,"@type":63},"Diagnosis is confirmed by genetic testing. Treatment is supportive because disease-modifying therapies are not available.","https://schema.org",{"og:url":32,"og:type":74,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":76,"canonical":32},"index,follow",{"doc_id":78,"site_id":7},533612,1792162992,{"code":4,"msg":81,"data":82},"success",[83,87,91,95,100,105,109,114,119,122,126],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":84,"show_sort_weight":85,"slug":86},"Story & Novel",90,"story-novel",{"id":26,"doc_module":4,"doc_module_name":25,"category_name":88,"show_sort_weight":89,"slug":90},"Literature",80,"literature",{"id":33,"doc_module":4,"doc_module_name":25,"category_name":92,"show_sort_weight":93,"slug":94},"Exam",70,"exam",{"id":96,"doc_module":4,"doc_module_name":25,"category_name":97,"show_sort_weight":98,"slug":99},5,"Comic",60,"comic",{"id":101,"doc_module":4,"doc_module_name":25,"category_name":102,"show_sort_weight":103,"slug":104},6,"Technology",50,"technology",{"id":106,"doc_module":4,"doc_module_name":25,"category_name":29,"show_sort_weight":107,"slug":108},7,40,"healthcare",{"id":110,"doc_module":4,"doc_module_name":25,"category_name":111,"show_sort_weight":112,"slug":113},8,"Research & Report",30,"research-report",{"id":115,"doc_module":4,"doc_module_name":25,"category_name":116,"show_sort_weight":117,"slug":118},9,"Religion & Spirituality",20,"religion-spirituality",{"id":117,"doc_module":4,"doc_module_name":25,"category_name":120,"show_sort_weight":117,"slug":121},"World Cup","world-cup",{"id":123,"doc_module":4,"doc_module_name":25,"category_name":124,"show_sort_weight":123,"slug":125},10,"Lifestyle","lifestyle",{"id":127,"doc_module":4,"doc_module_name":25,"category_name":128,"show_sort_weight":96,"slug":129},19,"General","general",{"code":4,"msg":81,"data":131},{"doc_id":78,"user_id":132,"nickname":42,"user_avatar":133,"doc_module":4,"category_id":106,"category_name":29,"doc_title":10,"doc_description":12,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":33,"is_deleted":4,"is_public":22,"is_downloadable":22,"audit_status":22,"page_count":139,"language":140,"language_code":8,"site_id":7,"html_lang":8,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":12,"update_tm":144,"read_time":145,"preview_page_count":4},3985747870414,"https://ap-avatar.wpscdn.com/davatar_9964176cb1d06d4a9deccf72a44ae3dc","●●●  \nItem 1 of 40  \nQuestion Id:2439Mark  \nPreviousNextFull ScreenTutorialLab ValuesNotesCalculatorReverse ColorText Zoom  \nA14-year-old girl is brought to the emergency department due to progressive weakness in the lower limbs for 3 weeks.Her parents first noticedclumsiness,which has progressed to difficulty walking over the last week.The patient had a fever,cough,and congestion about 1 month ago andhas otherwise been well.She has a history of high plantar arches requiring orthotics and mild scoliosis.The patient takes no medication and hasno allergies.Her parents and 2 older siblings are healthy.Vital signs are normal.On examination,she has a wide-based gait and has difficultymaintaining balance without assistance.Strength is 2/5 in the lower extremities and 5/5 in the upper extremities.There is decreased vibratoryand position sense in the lower extremities.MRI shows cervical spinal cord atrophy.When discussing the most likely diagnosis with the patient'sparents,which of the following statements is most accurate?  \n○ A.A predisposition to malignancy is typical of this progressive disease.○ B.Anti-viral therapy will reduce symptoms.  \n○ C.Genetic testing is recommended to confirm the diagnosis.  \nO D.This chronic condition typically stabilizes with disease-modifying therapies.O E.This is a nonprogressive condition that usually improves with supportive care.  \nSubmit  \nSettings  \n| 三   | ×   | 1 of 40  \u003Cbr>tion Id:2439   | Mark   | Previous   | 卡  \u003Cbr>Exit Mode  \u003Cbr>Next   |  | Tutorial   | Lab Values   | Notes   | 0.2  \u003Cbr>□□□  \u003Cbr>Calculator   | Reverse Color    | A AA  \u003Cbr>Text Zoom   | Settings   |\n| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |\n|  |  |  |  |  | Friedreich ataxia   |  |  |  |  |  |  |  |  |\n\n|  | Scanned by    |      | Camera Scanner   | 旦   | 4  \u003Cbr>⑪   |  |\n| --- | --- | --- | --- | --- | --- | --- |\n\n\n| 口   |\n| --- |\n\n只  \nFriedreich ataxia (FA),the most common hereditary form of ataxia,is an autosomal recessive condition that classically presents withprogressive ataxia in adolescence.FA is caused by an excessive number of trinucleotide repeat sequences (most commonly GAA)in thefrataxin gene.  \nNeurologic findings include dysarthria,limb weakness,loss of deep tendon reflexes,and progressive gait and limb ataxia.Loss of position andvibratory senses occurs due to deterioration of the dorsal spinal column.Skeletal comorbidities include kyphoscoliosis and pes cavus (high-arched feet),as seen in this patient.Hypertrophic cardiomyopathy occurs in most patients,with an increased risk of arrhythmia and heart failure,usually leading to death by age 40.Imaging may reveal cervical spinal cord atrophy.Diagnosis is confirmed by genetic testing.  \nManagement is supportive(eg,physical therapy,psychological support),as no disease-modifying therapies are available(Choice D).Prenatalgenetic testing and counseling are available for future pregnancies for confirmed cases in siblings or if both parents are known carriers.  \n(Choice A)Ataxia-telangiectasia is also an autosomal recessive,progressive disorder that presents with ataxia in addition to ocular andcutaneous telangiectasias.Patients have DNA repair deficits that increase the risk of malignancy;FA does not predispose patients to cancer.  \n(Choice B)Viral encephalitis can present with ataxia,but patients have fever,seizure,or altered mental status.Imaging reveals brain edema andinflammation.  \n(Choice E)Acute cerebellar ataxia is typically a postinfectious disorder that presents with acute onset of ataxia,nystagmus,and dysarthria.Guillain-Barré syndrome is an immunologic polyneuropathy that classically presents with acute ascending weakness and areflexia.However,neither condition affects vibratory and position senses,and both usually resolve with supportive care,in contrast with Friedreich ataxia.  \n# Educational objective:\n\nFriedreich ataxia is an autosomal recessive,neurodegenerative disease that typically presents in adolescenc","cbCaivsWi3Dc4UfX","https://ap.wps.com/l/cbCaivsWi3Dc4UfX","pdf",42424031,148,"English","# Educational objective\n## Key clinical features\n## Genetic cause and confirmation\n## Management approach","[{\"question\":\"What is the typical age and hallmark presentation of Friedreich ataxia?\",\"answer\":\"It classically presents in adolescence with progressive ataxia. Patients also show loss of position and vibratory senses.\"},{\"question\":\"What genetic abnormality causes Friedreich ataxia?\",\"answer\":\"Friedreich ataxia is caused by an excessive number of trinucleotide repeat sequences, most commonly GAA, in the frataxin gene.\"},{\"question\":\"How is Friedreich ataxia diagnosed and managed?\",\"answer\":\"Diagnosis is confirmed by genetic testing. Treatment is supportive because disease-modifying therapies are not available.\"}]","Friedreich ataxia - Educational objective | PDF",1791593216,373]