
friedriche yokka ataxia

friedriche ataxia (frda ledhaa fa) anedi autosomal-recessive janyu vyaadhi, idhi nadavadaniki ibbandi, chetulu mariyu kaallaloo samanvayam kolpovadam mariyu kalakramena ksheeninche prasangam kaligistundi. lakshanaalu saadhaaranamgaa 5 nundi 20 samvatsaraala madhya praarambhamavutaayi. chaalaa mandhi hypertrophic cardiomayopatini abhivruddhi chestaaru mariyu vaari teanage loe karra, walker ledhaa wheel chair vanti chalanasheelata sahayam avasaram. vyaadhi perige koddi, kontamandi baadhitulu vaari drushti mariyu vinikidini kolpotaru. itara samasyalalo paarshvaguuni mariyu madhumeham undavacchu.
eee paristhiti chromosome 9 looni "efxn" janyuvulo utparivartanala valla sambhavistundi, idhi fratoxin anae proteinnu tayaaru chestundi. frdlo, kanaalu takkuva fraataaxinnu utpatti chestaayi. vennupaamuloni naraala kanajaalam ksheeninchadam ataxiaku kaaranamavutundi; mukhyamgaa prabhaavitamaina indriya neuronlu, medadu kanajaalamtho anusandhanam dwara chetulu mariyu kaalla kandaraala kadalikanu nirdesinchadaaniki avasaramainavi. vennupamu sannaga maarutundi, mariyu naraala kanaalu kontha mylin kavacham kolpotayi.
2023 fibravarilo, efae chikitsaku modati aamodam fda dwara manjuru cheyabadindi. european unionlo aamodam pendinglo undhi. aneka adanapu chikitsalu vichaaranalo unnaayi. frda gunde jabbula kaaranamgaa ayurdayam taggistundi, conny kontamandi vaari 60 ledhaa anthakante ekkuva vayassu varaku jeevinchavachhu.
united stateslo 50,000 mandiloo okarini frda prabhaavitam chestundi mariyu idhi atyanta saadhaarana vaarasatvamgaa vacchina ataxia. paschima european santatiki chendina prajalalo eee raetlu ekkuvagaa unnaayi. 1860laloe dheenini modatisaarigaa vivarinchina german vaidyudu nicolus friedreach paeru meeda eee paristhitiki paeru pettaru.
lakshanaalu.
lakshanaalu saadhaaranamgaa 5 mariyu 15 samvatsaraala madhya praarambhamavutaayi, conny aalasyamgaa praarambhamaina FRDA loe, avi 25 samvatsaraala vayassu tarvaata sambhavinchavachhu. lakshanaalu vistrutamgaa untaayi, conny sthiramgaa nadaka mariyu avayavaala ataxia, disorthria mariyu diguva avayavaala praticharyalu kolpovadam untaayi.
shaastreeya lakshanaalu.
rogalakshanam yokka tarachudanam, prarambham mariyu purogati loe kontha vaividhyam untundi. frda unna vyaktulandaruu disorthria mariyu diguva avayava praticharyalu kolpovadam mariyu ataxiatho 90 saataaniki paiga undatam vanti naraala lakshanaalanu abhivruddhi chestaaru. prarambha praarambhamlo frdatho hridaya samasyalu chaalaa saadhaaranam. chaalaa mandhi vyaktulu gunde peragadam, cemetrical hypertrophy, haart gonugudu, karnika dada, tachycardia, hypertrophic cardiomayopati mariyu prasarana lopaalu vanti gunde samasyalanu abhivruddhi chestaaru. paarshvaguuni sumaru 60 saatam untundi. frda unnavaarilo 7 saatam mandiki diabetes kooda undhi mariyu diabetes unnavaaru efae unnavaaripai pratikuula prabhavam chuuputaaru, mukhyamgaa chinnatanamlo lakshanaalu choopinche vaaripai.
itara lakshanaalu.
chaalaa kaalamgaa frdatho jeevistunna vyaktulu itara samasyalanu abhivruddhi cheyavachu. 36.8 saatam anubhavam drushti teekshanhatanu tagginchindi, idhi pragatiseelamgaa undi, kriyaatmaka andhatvaaniki daariteeyavachchu. daadaapu 10.9% kesulalo vinikidi lopam untundi. kontamandi rogulu muutraasayam mariyu pregu lakshanaalanu nivedistaaru. vyaadhi yokka adhunaatana dasalu supraventricular tachiarithmiatho mudipadi untaayi, ivi saadhaaranamgaa karnika dada.
itara taruvaati dasha lakshanaalalo, nistagmus, vegavantamaina saccadic kanti kadalikalu, diasmetria mariyu samanvayam kolpovadam (trunkle ataxia mariyu stamping nadaka) vanti cerebellar prabhavalu undavacchu. kampana anubhootini kolpovadam mariyu propreoceptive sensation vanti dorsal kaalam lakshanaalu undavacchu.
samanvayam mariyu kandaraala balam yokka pragatiseela nashtam wheel chair yokka puurti samayam viniyogaaniki daariteestundi. frdatho badhapaduthunna chaalaa mandhi yuvakulaku 20la praarambhamlo karra, walker ledhaa wheel chair vanti chalanasheelata sahayalu avasaram.
vyaadhi pragatiseelamgaa untundi, perugutunna asthiramaina ledhaa porapaatlu mariyu tarachugaa padipovadam. moodava dasaabdam natiki, baadhita prajalu sahayam lekunda nilabade ledhaa nadiche saamarthyaanni kolpotaru mariyu kadalika kosam wheel chair avasaram.
prarambha kesulu.
paarshvaguuni, pess cavus, cardiomayopati mariyu diabetes vanti naraala sambandhita lakshanaalu prarambha kesulalo ekkuvagaa untaayi.
janyusaastram.
frda anedi oka autosomal-recessive desorder, idhi chromosome 9 paie janyuvunu ("efxn") prabhaavitam chestundi, idhi fratoxin anae mukhyamaina proteinnu utpatti chestundi.
96 saatam kesulalo, utparivartana chendina "efxn" janyuvu rendu yugmavikalpala intron 1loe 90-1,300 gaa trainucleotide punaraavruta vistaranalanu kaligi untundi. eee vistarana epigenetic maarpulaku mariyu punaraavrutaaniki sameepamlo heterochromatin erpadataaniki kaaranamavutundi. chinna gaa punaraavrutam yokka podavu prarambha vayassu mariyu vyaadhi teevratatoo sambandham kaligi untundi. heterochromatin erpadatam valla janyuvu yokka transcription taggutundi mariyu fratoxin takkuva sthaayilo untundi. aarogyakaramaina vyaktulatoe poliste efdra unna vyaktulu fratoxin protein yokka 5-35% kaligi undavacchu. utparivartana chendina efxn janyuvu yokka bhinnamaina vahakalu 50 saatam takkuva fratoxin sthaayilanu kaligi untaayi, conny eee taggudala lakshanaalanu kaliginchadaaniki saripodu.
sumaru 4 saatam kesulalo, eee vyaadhi oka (missense, ardhamlenidi ledhaa intronic) point mutation valla sambhavistundi, oka yugmavikalpamlo vistarana mariyu marokadaanilo point mutation. missense point mutation telikapati lakshanaalanu kaligi untundi. point mutationnu batti, kanaalu mitochondriaku sarigga sthaanikeekarinchani fratoxin, naan functional fratoxin ledhaa fraataaxinlanu utpatti cheyalevu.
pathophysiology.
frda naadii vyavastha, gunde, clomum mariyu itara vyavasthalanu prabhaavitam chestundi.
vennupaamulo naraala kanajaalam ksheeninchadam ataxiaku kaaranamavutundi. serebellamtho anusandhanam dwara chetulu mariyu kaalla kandaraala kadalikanu nirdesinchadaaniki avasaramaina indriya neuronlu mukhyamgaa prabhaavitamavutaayi. eee vyaadhi pradhanamgaa vennupamu mariyu paridheeya naraalanu prabhaavitam chestundi.
vennupamu sannabadutundi mariyu naraala kanaalu kontha mylin kavacham kolpotayi. pradhanamgaa chinna dorsal ruut ganglia kaaranamgaa vennupamu yokka vyaasam prabhaavitam kaani vyaktula kante takkuvagaa untundi. vennupamu yokka motaru neuronlu indriya neuronla kante takkuva sthaayilo prabhaavitamavutaayi. paridheeya naraalalo, pedda myelinated indriya fibers nashtam sambhavistundi.
medadulooni nirmaanaalu kooda frda dwara prabhaavitamavutaayi, mukhyamgaa cerebellum yokka dentate nucleus. gunde tarachugaa kontha fibrosisnu abhivruddhi chestundi, mariyu kalakramena, edama-ventrical hypertrophy mariyu edama ventrical yokka vistarananu abhivruddhi chestundi.
fratoxin.
fratoxin yokka khachitamaina paatra aspashtamgaa undhi. kanaalalo jeevakriya vidhulanu nirvahinchadaaniki avasaramaina shakti anuvu adenosine triphosphate utpatti cheyadaaniki electron ravana golusulo iron-sulfur protein samshlaeshanhaku fratoxin sahaayapadutundi. idhi saadhaarana prakriyalanu nirvahinchadaaniki saraina mottamlo reactive oxygen jaatulanu (aros) andinchadam dwara mitochondrialo inumu badileeni kooda niyantristundi. fratoxin lopam yokka oka phalitam mitochondrial iron overload, idhi cellular metabolism meeda prabhaavaala kaaranamgaa aneka proteinlanu debbateestundi.
fratoxin lekunda, mitochondrialo shakti padipotundi, mariyu adanapu inumu adanapu rosenu srushtistundi, idhi marinta kanaala nashtaniki daariteestundi. takkuva fratoxin sthaayilu mitochondrial electron ravana mariyu mottam kanam yokka functional econitase mariyu iron diasmetabolism yokka assembleaki avasaramaina inumu-sulfur samuuhaala taginanta jeevasamshleshanhaku daariteestaayi.
rooga nirdhaarana.
samatulyata kashtam, propreoception kolpovadam, reflexes lekapovadam mariyu itara naraala samasyala sankethaalu saareeraka pareeksha nundi saadhaarana sankethaalu. electromeogram, naraala prasarana adhyayanalu, electrocardiogram, ecocardiogram, perigina glucose sthaayilu mariyu vitamin ii sthaayila kosam rakta pareekshalu mariyu paarshvaguuni kosam ex-rae radiograph vanti skaanlu vanti saareeraka pareekshanu nirdhaarinchadaaniki roganirdhaarana pareekshalu cheyabadataayi. itara naraala paristhitulanu thosipuchadaaniki medadu mariyu vennupamu yokka mri mariyu siti skaanlu cheyabadataayi. chivaraku, nirdhaarinchadaaniki janyu pareeksha nirvahinchabadutundi.
itara roganirdhaaranalalo charcott-maerii-tooth rakalu 1 mariyu 2, vitamin ii lopamtho ataxia, ataxia-occulomotor aproxia rakalu 1 mariyu 2 mariyu itara prarambha-prarambha ataxias undavacchu.
lakshanaala nirvahana.
vaidyulu mariyu rogulu friedriche ataxia kosam clinical management maargadarsakaalanu suuchimchavachchu. eee maargadarsakaalu friedriche ataxia unna vyaktula samrakshana gurinchi samacharam chikitsa nirnayaalu teesukovadamlo arhata kaligina aarogya samrakshana nipunulaku sahaayapadataaniki uddesinchabaddaayi. 
chikitsalu.
2023 fibravarilo friedriche ataxia chikitsa kosam skycleries anae brand paerutoe omaveloxolone fda aamodam pondindi. iyu loe aamodam pendinglo undhi. 
punaravasam.
saraina bhangima, kandaraala vadakam, bigutu dustulu, sarigaa sardubaatu cheyani wheelchairlu, noppi mariyu sankramana vanti spaastisitiilanu penche lakshanaalanu gurtinchadam mariyu nivaarinchadam vanti vaati gurinchi avagahana kalpinchadamlo saareeraka chikitsakulu keelaka paatra poeshistaaru.
bhouthika chikitsalo saadhaaranamgaa laabhaalanu kaapaadataaniki intensive motor coordination, balance mariyu stabilisation sikshana untaayi. eguva mariyu diguva chivarala yokka kriyaatmaka viniyogaanni nirvahinchadaaniki takkuva-teevrata balopetam chese vyayamalu chaerchabadataayi. spaastisitiini nirvahinchadaaniki mariyu vaikalyalanu nivaarinchadaaniki stretching mariyu kandaraala sadalimpu vyayaamaalanu suuchimchavachchu. itara saareeraka chikitsa lakshyaalalo badilee mariyu chalana swaatantryam, kandaraala balopetam, saareeraka sthitisthaapakata, "surakshita patanam" vyuuham, chalanasheelata sahayalanu upayoginchadam neerchukoevadam, shareera shakti vyayaanni elaa tagginchaalo neerchukoevadam mariyu nirdishta swaasa namuunaalanu abhivruddhi cheyadam vantivi unnaayi. speach therapy vois naanhyatanu meruguparustundi.
parikaraalu.
baga amarchabadina keellaku saraina bhangimanu prothsahinchavachhu, saadhaarana keella amarikaku maddatu ivvavacchu, nadaka samayamlo keellanu sthireekarinchavachhu, kadalika mariyu nadaka paridhini meruguparachavacchu, spaastisitiini tagginchavachhu mariyu paadaala vaikalyalu mariyu paarshvaguuni nivaarinchavacchu.
functional electrical stimulation ledhaa transcutaneous naraala stimulation parikaraalu lakshanaalanu tagginchavachhu.
ataxia purogati konasaagutunnanduna, chalanasheelata mariyu swaatantryam kosam karra, walker ledhaa wheel chair vanti sahayaka parikaraalu avasaram kaavacchu. nilabadi unde frame wheel chair yokka sudeergha upayogam yokka dviteeya samasyalanu tagginchadaaniki sahaayapadutundi.
hridaya sambandhamaina prameyam nirvahinchadam.
cardiac asaadhaaranatalanu analypril, ramipril, licinopril ledhaa trandolapril vanti aes inhibitorsto niyantrinchavacchu, konnisaarlu beata blackerlatho kalipi upayogistaaru. rogalakshana raktaprasarana gunde vaiphalyam unna baadhitulaku cardiac asaadhaaranatalanu adupulo unchadaaniki appleronone ledhaa degoxin suuchimchavachchu.
shastrachikitsa jokyam.
shastrachikitsa asaadhaarana kandaraala tone valla kalige vaikalyalanu saricheyavachhu. vennemukalo choppinchina titanium maralu mariyu raadlu paarshvaguuni purogatini nirodhinchadaaniki ledhaa mandaginchadaaniki sahaayapadataayi. akiles snaayuvunu podiginchadaaniki shastrachikitsa anedi vishuvattu vaikalyanni tagginchadaaniki swaatantryam mariyu chalanaseelatanu meruguparustundi. teevramaina gunde vaiphalyam tarvaata automated implant cheyagala cardioverter-defibrillatornu amarchavacchu.
omaveloxolone fibravari 2023loe united stateslo vaidya upayogam kosam aamodinchabadindi.
rooga niruupana.
eee vyaadhi ververu vyaktulalo ververugaa abhivruddhi chendutundi. saadhaaranamgaa, chinna vayassulo ledhaa ekkuva kaalam gaa triple vistaranalu unnavaaru marinta teevramaina lakshanaalanu kaligi untaaru.
raktaprasarana gunde vaiphalyam mariyu asaadhaarana gunde layalu maranaaniki pradhana kaaranaalu, conny takkuva lakshanaalu unna vyaktulu vaari 60 ledhaa anthakante ekkuva vayassu varaku jeevinchavachhu.
epidemiology.
frda indo-european janabhanu prabhaavitam chestundi. idhi thoorpu aseanlu, upa-sahara aafrikanlu mariyu sthaanika americanlalo arudu. frda anedi atyanta prabalamaina vaarasatvamgaa vacchina ataxia, idhi european santatiki chendina 40,000 mandiloo 1 mandini prabhaavitam chestundi. purushulu mariyu mahilalu samanamga prabhaavitamavutaaru. anchanaa vesina vaahaka praabalyam 1:100. europeanla yokka 1990-1996 adhyayanam prakaram sambhavam raetu 2.8:100,000 gaa lekkinchabadindi. japaanlo frda yokka praabalyam raetu 1:1,000,000.
frda haplogroup r1b maadirigaane namuunaanu anusaristundi. haplogroup aarr1bii anedi paschima airopalo tarachugaa sambhavinche pitru vamsam. uttara speyin, ireland mariyu fraanslaloo frda mariyu haplogroup aarr1bii sarvasaadhaaranam, russia mariyu scandinavialo arudainavi, mariyu madhya mariyu thoorpu airopa gundaa pravanatanu anusaristaayi. gatha manchu yugamlo eee vyaadhini mosukelle janabha franco-contabrian praantamloo janabha addankini edurkondi.
charitra.
eee paristhitiki 1860la naati german pathologist mariyu neurologist nicolus friedreach paeru pettaru. friedriche 1863loe heidelberg vishwavidhyaalayamlo eee vyaadhini nivedinchaaru. 1876loe oka patrikalo marinni pariseelanalu prachurinchabaddaayi.
frantz fannon 1951loe frdapy thana vaidya theesisnu raasaaru.
1984 kenadian adhyayanam 1634loe nyuu fraansku vacchina oka saadhaarana puurveekula jantaku 40 kesulanu gurtinchindi.
1996loe chromosome 9paie gaa punaraavruta vistaranatoe frda modatisaari mudipadi undhi.
parisoedhana.
prastutam friedriche ataxiaku etuvanti nivaarana ledhu, mariyu chikitsa abhivruddhi prastutam vyaadhi purogatini mandaginchadam, apadam ledhaa tippadam vaipu nirdesinchabadindi. 
2019loe, riyata pharmaceuticals oka transcriptional phyaaktar, nrf2 yokka kriyaaseelatanu lakshyamgaa chesukovadaniki arta 408 (omaveloxolone ledhaa omav) yokka faze 2 trial loe saanukuula phalitaalanu nivedinchindi. frda kanaalalo nrf2 taggutundi. mae 2022loe, eff. dii. eah. omaveloxolone kosam kotta aushadha darakhaastunu angeekarinchindi mariyu daaniki praadhaanyata sameekshanu manjuru chesindi. 2023 fibravarilo friedriche ataxia chikitsa kosam skycleries anae brand paerutoe omaveloxolone fda aamodam pondindi. iyu loe aamodam pendinglo undhi. 
aneka adanapu chikitsalu vichaaranalo unnaayi. clinical trial niyamakanni sulabhataram cheyadaaniki rogulu registrylo namodu chesukovacchu. friedriche yokka ataxia global patient registry anedi lakshanaalanu vargeekarinchadaaniki mariyu vyaadhi purogati retunu sthaapinchadaaniki friedriche yokka ataxia rogula yokka prapanchavyaapta registry matrame. friedriche yokka ataxia yap anedi kotta rakaala parisoedhanalanu praarambhinchae ekaika prapancha samaja anuvartanam.
mae 2021 natiki, eee krindi margallo parisoedhana konasaagutundi.
samajam mariyu samskruti.
"dhi cake eaters" anedi 2007loe vacchina swatantra drama chitram, indulo christen stevert frdatho oka yuvakudigaa natinchaadu.
"dhi ataxian" anedi parisoedhana kosam dabbunu sekarinchadaaniki anukuulamaina "trike" loe suduura bike resunu puurti chese frdatho unna athlet kail bryant kathanu cheppe documentary.
daina houbert vikalaangulaina americanlaku maddatu ivvadam gurinchi 2016 prajaasvaamya jaateeya sadassulo matladaru.
adaptive wheel chairlo kilimanjaro parvataanni scaling cheyadaaniki prasiddhi chendina frda dwara prabhaavitamaina athletlo geraint villiams.
sobhika kalra frdatho oka kaaryakarta, aame 2020 natiki dubaaynu puurtigaa wheel chair-friendleegaa maarchadaaniki 2018loe united arab emirateslo 1000 wheel chair ramplanu nirminchadamlo sahaayapadindi.