Ataxia

Intsapho epheleleyo kunye nembali yomntu, ukuhlolwa komzimba, kunye ne-neuroimaging, kunye novavanyo olubanzi lwebhubhoratri lunokufuneka ukuxilongwa kwe-ataxic syndromes. Nangona kunjalo, kwiimeko ezininzi, i-etiology ye-ataxia ihlala ingaqinisekanga ngaphandle kokusebenza ngokupheleleyo.

Izizathu ze-ataxia ebuntwaneni, ukufikisa kunye nomntu omdala zihlukile. Oku kulandelayo yimigaqo ethile enika ugqirha iindlela ezingcono zokuxilonga. Ebantwaneni, izizathu ezingapheliyo ze-ataxia zixhaphake kakhulu, kuquka i-Friedreich kunye noluhlu lweziphoso ezizalwa nazo zokuphazamiseka kwemetabolism, njengeendlela zolutsha lwe-GM2 gangliosidoses, kunye ne-sulfatide lipidoses (i-metachromatic leukodystrophy). I-Friedreich's ataxia idla ngokuvela ebantwaneni nakubantu abadala, kwaye esi sifo siye sachazwa ngamaxesha athile kubantu abadala. I-ataxia ye-Hereditary kunye nokunqongophala kwevithamin E, ukuphazamiseka kwe-autosomal recessive, kunokubonisa iimpawu ezifana kakhulu nezo zifumaneka kwi-ataxia kaFriedreich. I-Abetalipoproteinemia ngomnye unobangela wokunqongophala kwe-vitamin E enxulumene ne-ataxia, kwaye ubukhali besifo buxhomekeke kwintsilelo kunye nokunqongophala kwe-vitamin E ehambelanayo. Ukunqongophala kwe-Vitamin 12 ngamanye amaxesha kubakho nge-ataxia engapheliyo, ehlala ihambelana nokulahleka kweproprioception. I-Cerebrotendinous xanthomatosis (CTX) yenye into enqabileyo, i-autosomal recessive lipid storage disorder. Iimpawu ze-neurological ngokubanzi ziqala malunga neminyaka engama-20 ubudala kwaye i-cerebellar ataxia yenye phakathi kwezinye iimpawu ze-neurological. Iimpawu ezidityanisiweyo, ezingezizo ze-neurological ziquka i-congenital / juvenile cataracts, i-tendon xanthomas (ingakumbi i-Achilles tendon), i-atherosclerosis yangaphambi kwexesha yimpawu ezizodwa ezahlula i-CTX kwezinye iingxaki zokugcina i-lipid. I-Ataxia-telangiectasia, esi sifo sinqabileyo, esiqhubekayo somntwana sibangela ukuwohloka kwengqondo kunye nezinye iinkqubo zomzimba. Esi sifo kwakhona kubangela ukuwohloka amajoni omzimba (isifo immunodeficiency), nto leyo eyandisa ukuba sesichengeni kwezinye izifo, kuquka usulelo kunye namathumba. Abantwana abane-ataxia-telangiectasia basengozini enkulu yokuba nomhlaza, ngakumbi i-leukemia okanye i-lymphoma. I-Telangiectasias yimithambo emincinci ebomvu "yesigcawu" enokuthi ibonakale kwiikona zamehlo esigulane okanye ezindlebeni nasezidleleni. I-sinus ephindaphindiweyo kunye nezifo zokuphefumula ziqhelekileyo. Uninzi lwabantu abanesifo badinga isitulo esinamavili kulutsha lwabo kwaye basweleke phambi kweminyaka engama-30 ubudala, ngokuqhelekileyo bebulawa ngumhlaza okanye isifo semiphunga (i-pulmonary).

Kwizigulane ezindala, i-autoimmune syndromes kuquka i-paraneoplastic syndrome (umzekelo, i-Anti Yo kunye ne-anti Hu) inokubangela i-ataxia. Isifo seCeliac, sisifo esizimelayo esine-anti-gliadin antibodies, sinokubangela i-ataxia. Ngokuhambela phambili kwetekhnoloji entsha, ukuxilongwa kwezizathu zofuzo ze-ataxia kuye kwaba nzima ngakumbi. Kukho ngaphezu kwe-40 i-autosomal dominant ataxias, kubandakanywa ne-7 eyona nto ibalulekileyo ye-ataxias ebangelwa i-CAG iphinda i-encoding i-polyglutamine protein domain (SCA 1, SCA2, SCA3, SCA6, SCA7, SCA17, DRPLA). I-Cerebellar ataxia kunye ne-cerebellar degeneration ixhaphake kuzo zonke iintlobo, kodwa ezinye iimpawu kunye neempawu, kunye neminyaka yobudala, ziyahluka ngokuxhomekeke kwinguqu ethile yemfuza.

I-Episodic ataxias (EA) liqela lee-ataxias ezinqabileyo nezichazwa kakhulu njengelifa. Okwangoku, kukho iintlobo ezisi-8 zee-EAs. Phakathi kwazo, i-EA1 kunye ne-EA2 zibaluleke kakhulu. Kwi-EA1, iziqendu ze-ataxia kunye nokungalingani kwe-gait kunye ne-slurring yentetho, zenzeka ngokuzenzekelayo. Olu hlobo lwe-ataxia lunokunyanzeliswa ngokuhamba ngokukhawuleza, uvuyo, okanye umthambo. Uhlaselo luhlala luhlala kwimizuzwana ukuya kwimizuzu emininzi ngexesha kwaye lunokuphinda luphindeke amaxesha amaninzi ngemini. Kwi-EA2, i-ataxia ithatha iiyure ukuya kwiintsuku, kunye nokungahambi kakuhle kwentshukumo yamehlo. Uxinzelelo lukholisa ukukhawulezisa iziqendu. I-EA2 ngokuphawulekayo ibangelwa isiphene sofuzo kumjelo we-calcium (CACNA1A). Iziphene ezahlukeneyo zofuzo zale mfuza zingabangela i-hemiplegic migraine yentsapho, kwaye ukuphindaphinda kwe-CAG kule gene kubangela i-SCA6, kwaye kukho ukugqithiswa kwi-symptomatology. Ubude bobomi abufutshane kwi-EAS, kwaye iimpawu zinokusabela kumayeza. I-Acetazolamide inokuba luncedo kunyango lwe-episodic ataxia.

Nangona i-ataxia inokuqatshelwa lula, nangona kunjalo, uphando lwezizathu ezisisiseko lufuna ukuvavanywa okucwangcisiweyo. Ezinye iziphazamiso zeneurologic ezinokuthi zibangele iingxaki ezifanayo zokuhamba kunye nokutyeba (umzekelo, i-neuropathy okanye izifo ze-spinal cord) zidla ngokwahlulwa ngeempawu ze-neurological zodwa. Kwiimeko ezibukhali, eyona njongo iphambili kukubona iziganeko ezibeka ubomi esichengeni. Kwiisetingi ezingezizo akukho algorithm elula okanye isikhokelo ekufuneka silandelwe. Ukuqhelana nokuphazamiseka kwe-ataxia kuya kunceda oogqirha benze ngokukhawuleza i-laboratory efanelekileyo kunye neemvavanyo zokuxilonga ukuqinisekisa ukuxilongwa. Ukufumana i-etiology ngamanye amaxesha ngumsebenzi onzima kwezinye iimeko, kodwa emva kokuba into ekhubekisayo isuswe kwi-ataxia efunyenweyo, ukuqhubela phambili kwesifo ngokuqhelekileyo kuyeka kwaye isigulane siya kuphila. Ngongenelelo lwangethuba, ngakumbi besebancinci, uninzi lwezigulana zihlawula kakuhle kwaye ziya kuba nokunganxibelelani kakuhle okanye kungabikho kwaphela.

Ngenxa yezizathu zofuzo ze-ataxia, ii-agent ezininzi ziye zabikwa ngokungahambelaniyo ukuphucula i-ataxia. Ngaloo ndlela ulawulo luhlala luxhasa, olunokubandakanya unyango lomzimba, umsebenzi, kunye nentetho.

Hubert Fernandez, MD
UMlawuli weZiko, iZiko lokuBuyiselwa kweNeurological
Kliniki yaseCleveland
Cleveland, OH USA

Uhlaziyo luka-2019 oluxhaswe ngu:
Yih-Ru Wu, MD
USekela Mlawuli, iSebe le-Neurology, iSibhedlele seSikhumbuzo se-Chang Gung, iSebe laseLinkou, eTaiwan
Unjingalwazi, iKholeji yeYunivesithi yaseChang Gung yezoNyango, eTaoyuan, eTaiwan