Kufufuza Bwino Kwambiri Maginito a Cerebellar Ataxia,
Mwachidule
Anthu akamakambirana za msana wa cerebellar ataxia (SCA), iwo akukamba za kagulu ka matenda omwe amachititsa kuti thupi liziyenda bwino. Pali mitundu yoposa 35 yosiyanasiyana ya attaa, yomwe imayambitsa matenda osiyanasiyana. Komanso, mawonekedwe atsopano akupitiriza kupezeka.
Ngakhale kuti pali kusiyana kwakukulu kosiyanasiyana, SCA ndi yabwino kwambiri.
Ngakhale zili choncho, ndi chimodzi mwa zifukwa zomwe zimayambitsa mavitamini a nayxia. Ngakhale pakati pa anthu opanda mbiri yakale ya banja omwe amayamba ataxia popanda chifukwa china chomveka, kusintha kwatsopano kwa SCA kungapezeke pafupifupi 20 peresenti ya nthawiyo.
Zimayambitsa
SCA imachokera ku kusintha kwa chibadwa. Mitundu yambiri imachokera ku zomwe zimatchedwa kusintha kwazitsulo, momwe ma nucleotide angapo (makamaka cytosine, adenosine, ndi guanine) amabwereza zambiri kuposa zomwe zimapezeka mwa anthu abwino. Mwachizoloŵezi chokhudzana ndi nucleotide zitatu zomwe zikubwereza, izi zimatchedwa trinucleotide kubwereza. Zotsatira za kubwereza kumeneku ndikuti mapuloteni amatha kusintha, zomwe zimayambitsa zizindikiro za matenda.
Kafukufuku wotchedwa spinocerebellar ataxia kawirikawiri amachokera ku mafashoni, motanthawuza kuti ngati mmodzi wa makolo ali ndi matendawa, pali pafupifupi 50 peresenti kuti mwanayo ali ndi matendawa.
Monga momwe dzina la spinocerebellar ataxia limasonyezera, matendawa amachititsa khungu ndi zina zambiri.
Nthendayi imatha kuwonongeka (atrophy), makamaka ku SCA mitundu 1, 2, ndi 7. Zigawo za atrophy nthawi zambiri zimayendetsa kayendetsedwe ka diso, zomwe zimabweretsa zovuta zachidziwitso ngati katswiri wa zamaganizo amayesa kuunika kwawo.
Kuthamangitsani
Attaxias opinocerebellar chifukwa cha kubwereza kusintha kwamasinthasintha kawirikawiri amadwala m'zaka zapakati.
Kuphatikiza pa ataxia, zotsatira zina zamagazi zimapezeka nthawi zambiri malinga ndi kusiyana kwa SCA. Kawirikawiri, pakapita nthawi yaitali, wodwala amakhala wamng'ono pamene zizindikiro zimabwera, ndipo kuwonjezereka kwachilomboko kumakhala kofulumira kwambiri.
Kawirikawiri, SCA mtundu 1 ndi wamwano kuposa mitundu 2 kapena 3, ndipo mtundu wa 6 ndi wovuta kwambiri SCA chifukwa cha trinucleotide kubwereza. Sitikudziŵa zambiri pa mitundu ina ya ataxias, koma anthu ambiri adzafunsira olumala zaka 10 mpaka 15 zizindikiro zitabwera. Ngakhale kuti mitundu yambiri ya SCA ifupiketsa moyo, izi sizili choncho nthawi zonse.
Chithandizo
Palibe mankhwala a SCA. Mankhwala monga zolpidem kapena varenicline aperekedwa kuti athandize athaia mu SCA mtundu 2 ndi 3 motero.
Mitundu
SCA1
SCA1 imayambitsa pafupifupi 3 mpaka 16 peresenti ya autosomal ma taxi ataxias. Kuphatikiza pa ataxia, SCA1 ikugwirizana ndi kuvutika kulankhula ndi kumeza. Kuwonjezeka kwa maganizo kumakhalanso kofala. Odwala ena amachitanso kuti minofu iwonongeke.
Kusintha kwa SCA1 ndiko kubwereza trinucleotide m'dera lotchedwa ataxin 1. Mitundu ya ataxin yomwe imasinthidwa pamodzi mumaselo, ndipo ingasinthe momwe maselo a mitsempha amasinthira mazenera awo. Izi ndizoona makamaka m'maselo a cerebellum.
SCA2
Pafupifupi 6 mpaka 18 peresenti ya anthu okhala ndi spinocerebellar ataxia ali ndi SCA2. SCA 2 imayambitsanso mavuto ogwirizanitsa komanso imayambitsa kayendetsedwe kake ka maso. Pazifukwa zovuta, SCA 2 ingayambe kuchepetsa chitukuko, kufooka, ndi kuvutika kukumeza ngakhale ali wakhanda.
SCA2 imayambitsanso katemera wina wotchedwa trinucleotide, nthawiyi ikukweza mapuloteni otchedwa ataxin 2. Pamene SCA1 imakhudza chigawo cha selo ndi DNA, SCA2 ikuwoneka kuti ikukhudza RNA ndipo imasonkhanitsa kunja kwapakati.
SCA2 imasonyeza momwe anthu osiyana amatha kupirira zizindikiro zosiyana ngakhale atakhala ndi kusintha komweko. Banja la Italy lomwe liri ndi SCA2 lasokonezeka maganizo, ndipo mabanja ochokera ku Tunisia avutika ndi chorea ndi dystonia .
SCA3
SCA3, yomwe imadziwika bwino kuti Machado-Joseph matenda , ndi SCA yomwe imapezeka kwambiri ku autosomal, yomwe imakhala pakati pa 21 ndi 23 peresenti ya SCA ku United States. Kuphatikiza pa ataxia, odwala omwe ali ndi Machado-Joseph akuyenda mofulumira komanso akuvutika kumeza. Kusokonezeka maganizo kumatha kuchitika, monga momwe dysautonomia ingathere . Pa kafukufuku wa opaleshoni ya a neurologist, odwala omwe ali ndi SCA3 angakhale ndi chisakanizo chapamwamba ndi chotsika chotulukira mpweya wa mitsempha yosonyeza amyotrophic lateral sclerosis .
SCA 4 ndi 5
Mafomuwa sali ocheperapo ndipo sali chifukwa cha trinucleotide kubwereza. SCA4 ikhoza kukhala ndi matenda a ubongo , koma izi ndi zoona pa ma atxias ambiri a spinocerebellar. SCA5 ilibe zizindikiro zina zosiyana ndi nayxia. SCA5 imakhala yofatsa ndikupita pang'onopang'ono. Chochititsa chidwi, kusinthika koyambirira kukuwoneka kuti kunachokera kwa agogo aamuna a Abraham Lincoln.
SCA6
SCA6 ikuwerengera SCA 15 mpaka 17 peresenti. Kusintha kwake kuli mu jini komanso kumagwirizanitsidwa ndi ataxia episodic ndi mitundu ina ya migraine. Kuphatikiza pa ataxia, kayendetsedwe ka diso kosadziwika kodziwika kuti nystagmus ikhoza kuwoneka pa kafukufuku wamaganizo.
SCA7
SCA7 imaphatikizapo 2 mpaka 5 peresenti ya autosomal yaikulu spinocerebellar ataxias. Zizindikiro zimadalira zaka za wodwalayo komanso kukula kwa kubwereza. Nthawi zina masomphenya akuwonetsedwa ndi SCA7. Kwa akuluakulu, kutayika kwa masomphenya kumeneku kungafike pamaso pa ataxia. Ngati trinucleotide ikubwereza nthawi yayitali, kutayika kwa masomphenya kungakhale koyamba Poyambira, ubongo ndi matenda a mtima zimabwera ndi ataxia ndi kutayika kwa masomphenya.
Chifukwa chakuti ma attaas onse a spinocerebellar ndi osowa kwambiri, sindidzawafotokozera mwatsatanetsatane. Nthawi zambiri, zizindikiro zimakhala zovuta kusiyanitsa ndi ma SCA ena omwe tawaphimba kale, koma kusintha kwa chibadwa kumasiyana.
Mwachitsanzo, SC8 imawoneka ngati zina SCA koma si zachilendo mmalo mwake kuposa kuti zinthu zikuyipiraipira ndi kubwereza kwakukulu kwa trinucleotide, ndizovuta pamene pali kubwereza 80 mpaka 250. Zosavuta siziwoneka ngati zikupanga vuto. SCA10 ndi pentanucleotide kubwereza m'malo mobwereza trinucleotide. Zina za matendawa, monga SCA25, zakhala zikufotokozedwa m'banja limodzi.
Other Spinocerebellar Ataxias
Ngakhale kuti spinocerebellar ataxia si yachilendo, ndikofunikira kwa asayansi ndi odwala kuti aganizire za matendawa ngati muli ndi mbiri ya banja. Kuzindikira kwa SCA kungakhale ndi zotsatira zofunikira osati kwa munthuyo pomwepo, koma kwa banja lawo lonse.
Zotsatira
Geschwind DH, Perlman S, Figueroa CP, ndi al. Kuchuluka kwa mankhwala opatsirana kwambiri a spinocerebellar ataxia mtundu 2 trinucleotide kubwereza kwa odwala omwe ali ndi cerebellar ataxia. Am J Hum Genet 1997; 60: 842.
Moseley ML, Benzow KA, Schut LJ, et al. Chikoka cha spinocerebellar ndi Friedreich katatu kubwereza pakati pa 361 mabanja a ataxia. Neurology 1998; 51: 1666.
Ranum LP, Lundgren JK, Schut LJ, et al. Matenda a mtundu wa atxia 1 ndi Machado-Joseph matenda: chiwerengero cha CAG chimapatsirana pakati pa odwala akuluakulu a atxia ochokera m'mabanja okwana 311 omwe ali ndi ayxia ovuta kwambiri, ochepa kwambiri kapena ochepa. Am J Hum Genet 1995; 57: 603.
Storey E, du Sart D, Shaw JH, et al. Mafupipafupi a mtundu wa atxia 1, 2, 3, 6, ndi 7 mu Australia omwe ali ndi spinocerebellar ataxia. Am J Med Genet 2000; 95: 351.