ImpiloIzifo nemibandela

Ataxia Friedreich sika: Izimpawu, Sifo Nokuselapha

Ataxia - lesi sifo, ebonakaliswa incoordination ukunyakaza, motility disorder nabanye ukwehla amandla e emikhawulweni. Olunye uhlobo - umndeni ataxia Friedreich sika, ifomu ezivame kakhulu ataxias sitholwa njengefa. Kwenzeka ephakathi kuka 2 no 7 100 000.

Lesi sifo ngokuvamile iningi iqala ebuntwaneni, ku 1-2 eyishumi th zokuphila (nakuba zikhona izimo uma kutholakala emva kweminyaka 20). Ataxia ngokuvamile ehlupheka amalungu amaningana omndeni - nabafowabo, nawodadewabo, futhi ezimweni eziningi kuvela imikhaya umshado ngesihluku. Izimpawu avele ngokushesha, lesi sifo sanda kancane kancane, ihlala amashumi eminyaka futhi kuletha ukungakhululeki eside ngaphandle usizo lwezokwelapha.

Izimpawu zesifo

Isici esiyinhloko ataxia Friedreich sika - Gait engaqinisekile isiguli. Ehamba bokuhamba Ufaka inyawo zakhe kuphambuka ububanzi futhi lizungezwe kusukela maphakathi emaceleni. Lapho isifo siqhubeka, ukulahlekelwa ukubambisana wadalula izingalo nemisipha ebusweni nasesifubeni. sobuso sishintsha, ke kubambezela, kuba nomqwayiba. Encishisiwe noma anyamalale umsipha ikhaliphe periosteal (kuqala ngezinyawo, khona-ke kwangathi lasakazekela izingalo). indlebe lehla njalo. Ukugobeka komhlandla iqhubeka.

Izimbangela zesifo

Lolu hlobo ataxias - ngofuzo, uhlobo okungamahlalakhona, uhlamvu ezithuthukayo. It siphathelene ataxia spinocerebellar, okuyinto iqembu efana izimpawu zezifo kubangelwa izilonda cerebellum, brainstem, umgogodla nezinzwa umgogodla, okuyinto okuvame ukuphazamisa ukuxilongwa okufanele. Nokho, phakathi cerebellar ataxia isifo esikhubazayo elinesimo ukuma, kuyilapho ezinye idluliselwa njengenhlangano autosomal imfanelo evelele. Lokho ingane egulayo uzalelwa umbhangqwana lapho abazali abathwali lwegciwane, kodwa kukhona isifo enempilo.

Lokhu kubonakala ataxia kuhlanganiswe ukonakala amakholomu ezilingene posterior we umgogodla, kubangelwa enzymatic futhi anomaly amakhemikhali imvelo ezingaziwa, sitholwa njengefa. Lapho lesi sifo sihlasela imishayo Gaulle Clark amaseli nezinsika ezingemuva indlela spinocerebellar.

"Umlando isifo"

isifo ataxia Friedreich liye egqanyisiwe ngendlela ezimele neminyaka engaphezu kwengu-100 edlule, uprofesa laseJalimane ataxia imithi N. Friedreich sika. Kusukela 1860s, lesi sifo ibilokhu wafunda ngenkuthalo. Uma ezizathwini enziwa 1982 ukuthi imbangela ataxia lezi zinkinga mitochondrial. Ngenxa yalokho, esikhundleni igama ovamile "ataxia Friedreich sika" Igama elithi "Friedreich sika isifo ataxia" siphakamisiwe njengoba esinembile kuveza kaningi kuwukubonakaliswa isifo - zezinzwa efana futhi extraneural.

izimpawu zokungasebenzi kahle kwemizwa

Uma isiguli ataxia Friedreich sika, izimpawu ukuthi belibonakala kakhulu owokuqala - kuba nzima futhi ungaqiniseki uma uhamba, ikakhulukazi ebumnyameni, ngokumangalisayo, kunesimo esingabangela ukukhubeka. Ukuze lokhu uphawu ujoyine discoordination nemilenze engenhla, ubuthakathaka kunemisipha yomlenze. Ekuqaleni lesi sifo kungase ukushintsha wesandla, dysarthria, ukukhuluma okwenzekayo ngokwemvelo explosiveness, staccato.

Okusithiyayo of ingqondo (umsipha nadkostichnyh) kungabonakala nasemkhakheni kokubili ngesikhathi kuvele nezinye izimpawu, futhi isikhathi eside phambi kwabo. Nge ukuqhubeka ataxia Ngokuvamile siyakwazi ukubona areflexia Imininingwane. Olunye uphawu okubalulekile Babinski, hypotonia kwemisipha, ngemuva kwalokhu imisipha umlenze babe buthakathaka, ngeke yoma.

ukubonakaliswa Abnerval ka ataxia nezinye izimpawu

Lesi sifo libhekene ataxia lwamathambo ukusonteka Friedreich sika. Iziguli othambekele ukugobeka komhlandla, kyphoscoliosis, sengozini we iminwe yakhe nezinzwani zakhe. Lokho okubizwa ngokuthi i stop fridreyhova (noma ayeke ataxia Friedreich sika) - isifo wesici ataxia Friedreich sika. Izithombe like izinyawo ukunikeza ukuqonda ngokucacile ukuthi ukusonteka okunjalo akukhona ejwayelekile nomzimba onempilo: iminwe pererazognuty ku proximal ndlela yokuhlasela yokuhlanganisa izihlangu kanye interphalangeal emalungeni ibheke at high lwaleli ngilugweda senyawo. Ushintsho efanayo kungenzeka nge emabhulashini.

Futhi, iziguli angaphansi izifo endocrine: zingabantu iziyaluyalu njalo njengesifo sikashukela, ukungasebenzi wesibeletho, infantilism, hypogonadism, njll Kusukela eceleni umbono yezingozi cataract ..

Uma kutholakale ukuthi une-ataxia Friedreich sika, abangamaphesenti angu-90 amacala ke uzobe ephelezelwa ukumelwa inhliziyo, intuthuko enenqubekela phambili zenhliziyo, hypertrophic ikakhulukazi. Iziguli esekhala ubuhlungu enhliziyweni, palpitation, dyspnea ku ukuzikhandla futhi t. D. Cishe amaphesenti angu-50 iziguli zenhliziyo izimbangela zokufa.

In esigabeni ngasekupheleni lesi sifo in iziguli amyotrophy ngokuphawulekayo, paresis, ukwephula izingalo ukuzwela. Okungenzeka ubuthulu, yoma optic, nystagmus, ngezinye izikhathi i- umsebenzi kwezitho okhalo kanye nesineke uhlushwa ukubambezeleka noma, Ngakolunye uhlangothi, incontinence. Ngokuhamba kwesikhathi, iziguli balahlekelwe ikhono ukuhamba futhi ukuzinakekela ngaphandle kosizo. Noma kunjalo ukukhubazeka ihlangabezane kunoma iyiphi ataxias ifomu, kuhlanganise nesifo ataxia Friedreich sika babonakala.

Njengoba for komqondo, lapho izifo ezifana ataxia cerebellar ataxia Friedreich sika, idatha olunembile kuso okwamanje: e abadala komqondo kwenzeka, sichazwe izingane njengoba kukalutshwana kakhulu, kanye retardation engqondo.

yezinkinga ataxia

ataxia Friedreich sika ezimweni eziningi kube nzima congestive inhliziyo ukwehluleka, kanye zonke izinhlobo nokuvaleka kwemigudu yokuphefumula. Ngaphezu kwalokho, in iziguli engozini eliphezulu kakhulu izifo yansukuzonke.

Indlela sitholakele ataxia Friedreich sika

Ukhiye nenqubo zokuxilonga lesi sifo wabonisa bha:

  • ifa lesi sifo kwenzeka imfanelo esikhubazayo;
  • lesi sifo uqala ngaphambi kweminyaka engu-25, ngokuvamile - ebuntwaneni;
  • ataxia lesichubekako;
  • areflexia tendinous, ubuthakathaka kanye yoma kwemisipha imilenze, futhi isandla kamuva;
  • Ukulahlekelwa ukuzwela okokuqala esitho ezijulile engezansi, bese elingenhla;
  • inkulumo kufiphele;
  • sengozini lwamathambo;
  • endocrine iziyaluyalu;
  • zenhliziyo;
  • ngwengwezi;
  • yoma we nomgogodla.

Ngakho uphethwe DNA iqinisekisa khona isakhi engaphelele.

uphethwe

Uma kuziwa lesi sifo njengoba ataxia Friedreich sika, uphethwe kuzomele sifake nemlandvo wetekwelashwa kwakhe, ukuqhuba ukuhlolisisa umnyuziki wezokwelapha kanye Ukufunda umlando isiguli nomkhaya wakhe. Ngokukhethekile ikhokhelwa izinkinga luhlolo ne isimiso sezinzwa, ezifana ibhalansi abampofu, Gait, futhi lapho sitadisha statics ingane, ukungabi ikhaliphe futhi emizweni emalungeni. Isiguli akakwazi uthinte okuphambene indololwane amadolo ageje at paltsenosovoy isampula bangase bahlupheke eliqhaqhazelayo nge izingalo ezeluliwe.

Ngo izifundo laboratory kukhona ukwephulwa amino acid umzimba.

Brain Bheka e ataxia Friedreich sika kuthola delta ehlasela umzimba kanye Theta umsebenzi, ukuncishiswa isigqi-alpha. Lapho electromyography wembula axonal-demyelinating izilonda sezinzwa neuropathy yezinzwa.

Ngoba ukuthola izakhi zofuzo ezilimele, ukuhlolwa zofuzo Kwenziwa. Ukusebenzisa uphethwe DNA esungulwe kungenzeka ifa lwegciwane nezinye izingane ekhaya. Futhi eziyinkimbinkimbi ukuhlola DNA wonke umndeni kungaba kwenziwe. Kwezinye izimo, i-DNA kokubeletha uphethwe.

Lapho kuhlolwa futhi kamuva emva ukuxilongwa isiguli iyadingeka ukushaya-X ray avamile ikhanda, emgogodleni, esifubeni. Uma kudingekile, baqoke ikhompyutha bese i-magnetic resonance tomography. On MRI zobuchopho lingatholakala ukubonwa yoma ka emgogodleni ubuchopho stem, izigaba engenhla vermis cerebellar. Futhi kudingeka luhlolo usebenzisa ECG kanye EhoEG.

ukuxilongwa umehluko

Lapho sitholakele ataxia Friedreich sika kuyadingeka ukuhlukanisa isifo sokuqina kwamalungu omzimba, amyotrophy kwemizwa, paraplegia umkhaya nezinye ataxias, ngokuyinhloko isifo Louis - Bar, wesibili imvamisa ataxia. Ukugula Louis - Bara, noma telangiectasia, futhi iqala ebuntwaneni futhi lubonakala emtholampilo khona ataxia isifo olubanzi Friedreich sika ukunwetshwa imithambo yegazi ezincane, ukungabi kwezinso lwamathambo.

Futhi okufanele ahlukaniswe kusuka isifo syndrome Ibhesi - Korntsveyga futhi ataxia kubangelwa ukuhluleka kwamangqamuzana vitamin E. Kulokhu, uphethwe kuyadingeka ukunquma amazinga egazi vitamin E, khona / ukungabikho acanthocytosis uphinde uhlole yayo lipid.

Ngesikhathi uphethwe kuyadingeka ukuba ngakususi izifo umzimba nge autosomal imodi esikhubazayo yefa, ephelezelwa ataxia spin-cerebellar nezinye izinhlobo.

Umehluko kusuka ataxia amaningi sclerosis isifo Friedreich sika kukhona ukuntuleka umsipha areflexia, uma kungekho amyotrophy futhi hypotension kwemisipha. Futhi, lapho ningagcini abnerval izimpawu sclerosis azikho izinguquko CT nama-MRI.

ukwelashwa ataxia

Iziguli ukuthi nginesifo ukwelashwa ataxia Friedreich kufanele sentiwe wezinzwa. Ngo ngaphezulu ukwelashwa siyefana, okuhloswe ngaso esiphezulu ukuhoxiswa kuwukubonakaliswa sifo. Kuhlanganisa yokwelapha okubuyisela ehlanganisa esasikhipha amalungiselelo ATP Cerebrolysin, amavithamini B, kanye ejenti anticholinesterase. Ngaphezu kwalokho, ukwelapha ataxia yizidakamizwa ezibalulekile ukugcinwa umsebenzi mitochondrial - ezifana succinic acid, riboflavin, uvithamini E. Ukuze uthuthukise izinga lokugayeka kokudla emzimbeni esivimba amanzi ebekiwe Riboxinum, kokarboksilazu et al.

Okwenziwe ukwelashwa okubuyisela nge amavithamini. Ukwelashwa kufanele liphindwe njalo.

Njengoba imbangela eyinhloko kule ubuhlungu isifo - ukugobeka komhlandla lesichubekako, iziguli kuboniswe ogqoke corset wamathambo. Uma umkaki kungasizi, eziningi izinqubo kuhlinzwa (emgogodleni ifakwe titanium izinduku ukuvimbela ukuqhubeka ukugobeka komhlandla).

Zonke lezi zinyathelo zenzelwe ukugcina isiguli njengoba isikhathi eside futhi ungayeka ngentuthuko isifo.

isibikezelo ataxia

Ukubikezela kwezifo ezifana ngokuvamile okungekuhle. iziyaluyalu Neuropsychiatric ayathuthuka kancane, ubude lesi sifo ziyahlukahluka, kodwa ezimweni eziningi ingeqi iminyaka engu-20, ama-63% amadoda (abesifazane Izibikezelo sisihle kakhulu - lapho kuqala lesi sifo cishe 100% bukhoma ngaphezulu kweminyaka engu-20).

I izimbangela zokufa avame inhliziyo futhi ukwehluleka yamaphaphu, ukuxakeka yezifo ezithathelwanayo. Uma isiguli akusho abanesifo sikashukela kanye nesifo senhliziyo, ukuphila kwakhe kungathatha Esegugile, kodwa Ezimweni ezinjalo awavamile. Noma kunjalo, ngenxa yokwelashwa siyefana ikhwalithi nobude besikhathi sokuphila iziguli wande.

zokuvimbela

Ukuvimbela ataxia isifo Friedreich lususelwe Ukwelulekwa wezokwelapha kanye zofuzo.

iziguli Ataxia sikhombisa isikhungo sezokwelapha ezemidlalo, sibonga ngalo imisipha ziyaqiniswa, discoordination encishisiwe. Bonisa ngokuyinhloko okufanele sigxile ukuqeqeshwa wamandla ukulinganisela kwemisipha. ukuvivinya umzimba nokwenza izivivinyo zokulungisa zivumele iziguli ukuba asebenzayo isikhathi eside ngangokunokwenzeka, ngaphezu, kulesi simo, uvikelwe ukuthuthukiswa zenhliziyo.

Ngaphezu kwalokho, iziguli angasebenzisa nezinsiza ukuthuthukisa izinga lokuphila kwabo - izindondolo, ahamba, izihlalo zabakhubazekile.

Ukusetshenziswa kwamandla kufanele ibe ngu- 10 g ama-carbohydrate / kg, hhayi kumkhathaze isici ukuthuthukiswa amandla umzimba.

Kuyadingeka ukugwema izifo ezithathelwanayo, ukuvimbela ukulimala kanye ukudakwa.

Omunye okuyiyona ebaluleke kakhulu zokuvimbela zokungenwa yizifo zokuvimbela ataxia ngofuzo. Uma kungenzeka, kufanele kuvinjelwe ukuzalwa kwezingane uma Umlando womkhaya wokusebenzisa kabi ataxia sifo Friedreich, futhi yokushadana kwezihlobo.

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