Isifo se-Machado-Joseph (MJD), esaziwa nangokuthi i- spinocerebellar ataxia hlobo 3 (SCA3), isifo se-ataxia esizuzwe njengefa. I-Ataxia ingathinta ukulawulwa kwemisipha, okuholela ekungabikho kokulinganisela nokusebenzisana. Ngokuqondile, i-MJD ibangela ukungabi khona kokusebenza okuqhubekayo ezandleni nasemilenzeni. Abantu abanesimo sivame ukuba nokuhamba okuhlukile, okufana nokugqwala okudakiwe.
Bangase babe nobunzima bokukhuluma nokugwinya.
I-MJD iye yaxhunyaniswa nesici sezakhi zofuzo esakhiweni se-ATXN3 ku- chromosome 14. Yisimo esibucayi se-autosomal, okusho ukuthi umzali oyedwa kuphela kufanele abe negayela lomntwana ukuthi angathinteka. Uma unesimo, ingane yakho inamathuba amaphesenti angu-50 wokulizuzisa. Lesi simo sivame ukubonwa kubantu basePutukezi noma e-Azorean. Esiqhingini sase-Flores e-Azores, abantu abangu-1 kwabangu-140 bathintekile. Noma kunjalo, i-MJD ingenzeka kunoma yiliphi iqembu lobuhlanga.
Izimpawu
Kunezinhlobo ezintathu ezahlukene ze-MJD. Uluphi uhlobo onalo oluxhomeke lapho izimpawu ziqala futhi ubukhulu bezo zimpawu. Nakhu ukubheka izici ezivame kakhulu nezibonakaliso zalezo zinhlobo ezintathu:
| Thayipha | Ubudala bokuqala | Ubunzima bokubonakalisa nokuqhubekela phambili | Izimpawu |
|---|---|---|---|
| Thayipha I (MKD-I) | Phakathi kweminyaka engu-10-30 ubudala | Ubunzima bokubonakalisa buqhubeka ngokushesha |
|
| Uhlobo II (MJD-II) | Phakathi kweminyaka engu-20-50 ubudala | Izimpawu zibuhlungu kancane kancane ngokuhamba kwesikhathi |
|
| Uhlobo III (MJD-III) | Phakathi kweminyaka engu-40-70 ubudala | Izimpawu zihamba kancane ngokuhamba kwesikhathi |
|
Abantu abaningi abane-MJD banenkinga yemibono njengombono ophindwe kabili (diplopia) nokuhluleka ukulawula ukunyakaza kwamehlo, kanye nokuthuthumela ezandleni zabo nasezinkingeni ngokulinganisela nokuxhumanisa. Abanye bangase bahlakulele ubuso noma izinkinga zokugeleza.
Indlela i-MJD ekhonjiswe ngayo
I-MJD itholakala ukuthi isekelwe ezimpawu ozibonayo.
Njengoba lesi sifo sizuze njengefa , kubalulekile ukubuka umlando womndeni wakho. Uma izihlobo zinezibonakaliso ze-MJD, buza ukuthi iziphi izimpawu zabo zaqala nokuthi zakha kanjani ngokushesha. Ukuxilongwa okucacile kungavela kuphela ekuhlolweni kwezakhi zofuzo, okuzobheka amaphutha ku-chromosome yakho engu-14. Kulabo abahlala ekuqaleni kokuqala i-MJD, isikhathi sokuphila singaba mfushane njengama-30s. Labo abane-MJD emnene noma uhlobo olusenesikhathi sokuphumula, ngokuvamile banesikhathi sokuphila esivamile.
Ukwelapha
Njengamanje, ayikho imithi yesifo seMachado-Joseph. Asinayo indlela yokumisa izimpawu zayo ukuba zingaqhubeki. Nokho, kukhona imithi engasiza ekunciphiseni izimpawu. I-Baclofen (i-Lioresal) noma i-toxin ye-botulinum (i-Botox) ingasiza ekunciphiseni ama-muscle spasms ne-dystonia. Ukwelashwa kwe-Levodopa, ukwelashwa okusetshenziselwa abantu abane-Parkinson's, kungasiza ukunciphisa ukuqina nokuphuza. Ukwelashwa ngokomzimba kanye nemishini yokusiza kungasiza abantu ngemisebenzi yokunyakaza kanye nemisebenzi yansuku zonke. Ukuze uthole izimpawu ezibonakalayo, izibuko zama-prism zingasiza ukunciphisa umbono obonakele noma kabili.
Imithombo:
"I-Machado-Joseph Fact Sheet." Izinkinga. 16 Apreli 2014. Isikhungo seNational of Neurological Disorders and Stroke.
"I-Machado-Joseph Disease." Inkomba yezifo ezinzima. Inhlangano Kazwelonke Yezinkinga Ezinzima. 15 Feb 2007.