UFriedreich ataxia

UFriedreich ataxia sisifo esinqabileyo esidlulayo kwiintsapho (ezizuzwe njengelifa). Ichaphazela izihlunu kunye nentliziyo.

UFriedreich ataxia ubangelwa sisiphene kwimfuza ebizwa ngokuba yi-frataxin (FXN). Utshintsho kolu luhlu lubangela ukuba umzimba wenze uninzi kakhulu lwenxalenye ye-DNA ebizwa ngokuba yi-trinucleotide repeat (GAA). Ngokwesiqhelo, umzimba uqulethe malunga neekopi ezisibhozo ukuya kwezingama-30 zeGAA. Abantu abaneFriedreich ataxia baneekopi ezili-1 000. Iikopi ezininzi ze-GAA umntu anazo, kwasekuqaleni ebomini isifo siqala kwaye ngokukhawuleza kuya kusiba mandundu.

UFriedreich ataxia sisifo se-autosomal recessive genetic disorder. Oku kuthetha ukuba kuya kufuneka ufumane ikopi yohlobo olunesiphene kumama notata wakho.

Iimpawu zibangelwa kukuguga kwezakhiwo kwiindawo zobuchopho kunye nomqolo olawula ukulungelelanisa, ukunyakaza kwemisipha kunye neminye imisebenzi. Iimpawu zihlala ziqala ngaphambi kokufikisa. Iimpawu zingabandakanya:

• Intetho engaqhelekanga
• Utshintsho kumbono, ngakumbi umbono wombala
• Ukuhla kwamandla okuziva ungcangcazela kumalungu asezantsi
• Iingxaki zonyawo, ezinje ngesando kunye neerali eziphezulu
• Ukuphulukana nokuva, oku kwenzeka malunga neepesenti ezili-10 zabantu
• Ukuhamba kwamehlo kukaJerky
• Ukuphulukana nolungelelwaniso kunye nokulingana, okukhokelela ekuweni rhoqo
• Ubuthathaka bemisipha
• Akukho reflexes emilenzeni
• Ukuhamba okungazinzanga kunye nokuhamba okungahambelaniyo (ataxia), esiba mandundu ngokuhamba kwexesha

Iingxaki zemisipha zikhokelela kutshintsho kumqolo. Oku kunokubangela i-scoliosis okanye i-kyphoscoliosis.

Isifo sentliziyo sihlala sikhula kwaye sinokubangela ukusilela kwentliziyo. Ukungaphumeleli kwentliziyo okanye i-dysrhythmias engaphenduliyo kunyango kunokubangela ukufa. Isifo seswekile sinokuphuhliswa kwinqanaba lesifo.

Olu vavanyo lulandelayo lunokwenziwa:

• ECG
• Izifundo ze-Electrophysiological
• EMG (i-electromyography)
• Uvavanyo lwemfuzo
• Uvavanyo lokuqhutywa kwemithambo
• Imisipha biopsy
• X-reyi, CT scan, okanye MRI yentloko
• X-ray esifubeni
• X-reyi yomqolo

Iswekile egazini (iswekile) Uvavanyo lunokubonisa isifo seswekile okanye ukunganyamezelani kwiswekile. Ukuvavanywa kwamehlo kunokubonisa ukonakala kwithambo le-optic, elihlala lisenzeka ngaphandle kweempawu.

Unyango lwe-Friedreich ataxia ibandakanya:

• Iingcebiso
• Unyango lwentetho
• Ulungiso lwenyama
• Izinto zokuncedisa ukuhamba okanye izitulo ezinamavili

Izixhobo zeOrthopedic (brace) zinokufuneka kwiscoliosis kunye neengxaki zonyawo. Ukunyanga isifo sentliziyo kunye neswekile kunceda abantu ukuba baphile ixesha elide kwaye baphucule ubomi babo.

UFriedreich ataxia uyehla kancinci kwaye ebangela iingxaki ekwenzeni imisebenzi yemihla ngemihla. Uninzi lwabantu kufuneka basebenzise isitulo esinamavili kwisithuba seminyaka eli-15 ukuqala kwesi sifo. Esi sifo sinokukhokelela ekufeni kwangethuba.

Iingxaki zinokubandakanya:

• Seswekile
• Ukungaphumeleli kwentliziyo okanye isifo sentliziyo
• Ukuphulukana nokukwazi ukuhambahamba

Fowunela umboneleli wakho wezempilo ukuba ngaba iimpawu ze-Friedreich ataxia ziyenzeka, ngakumbi ukuba kukho imbali yosapho yokuphazamiseka.

Abantu abanembali yosapho ye-Friedreich ataxia abanenjongo yokuba nabantwana banokufuna ukuqwalasela ukuhlolwa kwemfuza ukumisela umngcipheko wabo.

Atxia kaFriedreich; Ukwehla kwe-Spinocerebellar

• Inkqubo ye-nervous central kunye ne-peripheral system

IMink JW. Ukuphazamiseka kwentshukumo. Ku: Kliegman RM, Stanton BF, St Geme JW, Schor NF, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla we-20. IPhiladelphia, PA: Elsevier; Ngo-2016: isahluko 597.

IWarner WC, iSawyer JR. Scoliosis kunye ne kyphosis. Ku: Azar FM, Beaty JH, Kanale ST, ii-eds. Umsebenzi weCampbell's Orthopedics. Umhla we-13. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 44.