Isifo seMachado-Joseph (MJD), esaziwa nangokuthi i- spinocerebellar ataxia hlobo 3 (SCA3), sisifo se-ataxia esizuze njengefa. I-Ataxia inokuchaphazela ukulawulwa kwemisipha, okubangelwa ukungabikho kwemilinganiselo kunye nokulungelelaniswa. Ngokukodwa, i-MJD ibangela ukungaphumeleli kokuqhubeka kokulungelelanisa kwiingalo nasemilenzeni. Abantu abanemeko bavame ukuba nokuhamba okungafaniyo, okufana nokudakwa okudakwa.
Basenokuba nobunzima bokuthetha nokugwinya.
I-MJD idibaniswe nesiphene semfuyo kwi-ATXN3 yesigcine kwi- chromosome 14. Yiyo imeko ephezulu ye-autosomal, oku kuthetha ukuba umzali omnye kuphela kufuneka abe ne-gene yokuchaphazeleka komntwana. Ukuba unesimo, umntwana wakho unokufumana ithuba lokufumana ilifa le-50%. Le meko ibonakala kakhulu kubantu basePutukezi okanye kwi-Azorean desccent. Kwisiqithi sase-Flores kwi-Azores, abantu abayi-1 kwabangu-140 bachaphazelekayo. Nangona kunjalo, i-MJD iyakwenzeka nakweyiphi na indawo.
Iimpawu
Kukho iintlobo ezahlukeneyo zeMJD. Yiyiphi uhlobo oxhomekeke kuyo xa iimpawu ziqala kunye nobukhulu bezo zimpawu. Nantsi ukujonga kwiimpawu eziqhelekileyo kunye neempawu zontlobo ezintathu:
| Uhlobo | Ubudala bokuqala | Ubunzima beMpawu kunye noPhuculo | Iimpawu |
|---|---|---|---|
| Uhlobo I (MKD-I) | Phakathi kweminyaka eyi-10-30 ubudala | Ubunzima beSimptom buqhubeka ngokukhawuleza |
|
| Uhlobo II (MJD-II) | Phakathi kweminyaka engama-20 ukuya kuma-50 ubudala | Iimpawu zibuhlungu ngokukhawuleza ngokuhamba kwesikhathi |
|
| Uhlobo III (MJD-III) | Phakathi kweminyaka engama-40-70 ubudala | Iimpawu ziba nzima ngakumbi ngexesha |
|
Abantu abaninzi abane-MJD banemibono yombono njengemibono emibini (diplopia) kunye nokukwazi ukulawula ukunyakaza kwamehlo, kunye nokuthuthumela kwezandla zabo kunye neengxaki ngokulinganisela nokulungelelanisa. Abanye banokuhlakulela ubuso okanye iingxaki zokucima.
I-MJD ichongwa njani
I-MJD ifunyaniswa ngokusekelwe kwiimpawu ozifumanayo.
Ekubeni i- disorder ilifa , kubalulekile ukujonga kwimbali yakho yentsapho. Ukuba izalamane zinempawu ze-MJD, zibuze xa iimpawu zabo zaqala kwaye zikhawuleza ziphuhlise njani. Ukuxilongwa ngokuqinisekileyo kunokuvela kuphela kuvavanyo lwemizimba, oluza kubheka iziphene kwi-chromosome yakho yesi-14. Kwabo baphila ngokuqala kwe-MJD, ukulinda ubomi kunokuba mfutshane nje nge-30s. Abo bane-MJD emninzi okanye uhlobo olusemva kwexesha elide, ngokuqhelekileyo banomdla wokuhlala ngokuqhelekileyo.
Unyango
Okwangoku, akukho nonyango yeMachado-Joseph. Sinawo indlela yokumisa iimpawu zayo ekuqhubekeni. Kukho, nangona kunjalo, amayeza anokunceda ukukhupha iimpawu. I-Baclofen (i-Lioresal) okanye i-toxin ye-botulin (iBotox) inokukunceda ukunciphisa ama-muscle spasms kunye ne-dystonia. Ukwelashwa kwe-Levodopa, unyango olwenzelwe abantu abane-Parkinson isifo, kunokukunceda ukunciphisa ubunzima nokuphuculwa. Ukwelapha umzimba kunye nezixhobo zokuncedisa kunokunceda abantu abaneentshukumo nemisebenzi yemihla ngemihla. Ukubonakalisa iimpawu ezibonakalayo, iziglasi zengqungquthela zinokunceda ukunciphisa umbono obonakele okanye obini.
Imithombo:
"Machado-Joseph Fact Sheet." Ngxaki. Ngomhla wama-16 kuMatshi 2014. Isiko seSizwe seNational Psychology and Stroke.
"Machado-Joseph Disease." Index of the Rare Diseases. I-National Organisation for Distress Disorders. 15 Feb 2007.