Ingabe siyelapheka isifo sikaMachado Joseph?

-Delile

• Yelashwa kanjani
• Enziwa kanjani amaseshini e-physiotherapy
• Ubani ongaba nalesi sifo
• Ukuxilongwa kwenziwa kanjani

Isifo seMachado-Joseph yisifo sezakhi zofuzo esingajwayelekile esidala ukuwohloka okuqhubekayo kwesistimu yezinzwa, esidala ukulahleka kokulawulwa kwemisipha nokuhlangana, ikakhulukazi ezingalweni nasemilenzeni.

Ngokuvamile, lesi sifo siba khona ngemuva kweminyaka engama-30, sihlala ngokuqhubekayo, sithinta kuqala imisipha yemilenze nezingalo futhi sikhule ngokuhamba kwesikhathi siye emisipheni ebhekele ukukhuluma, ukugwinya nokuhamba kwamehlo.

Isifo sikaMachado-Joseph asikwazi ukwelashwa, kepha singalawulwa ngokusetshenziswa kwemithi kanye nezikhathi ze-physiotherapy, ezisiza ukuqeda izimpawu nokuvumela ukusebenza ngokuzimela kwemisebenzi yansuku zonke.

Yelashwa kanjani

Ukwelashwa kwesifo seMachado-Joseph kumele kuqondiswe yi-neurologist futhi imvamisa kuhlose ukunciphisa imikhawulo evelayo ngokuqhubekela phambili kwalesi sifo.

Ngakho-ke, ukwelashwa kungenziwa nge:

• Ukudla ngamakhambi kaParkinson, njenge-Levodopa: ukusiza ukunciphisa ukuqina kokunyakaza nokuthuthumela;
• Ukusetshenziswa kwamakhambi antispasmodic, njenge-Baclofeno: zivimbela ukuvela kokuphazamiseka kwemisipha, kuthuthukise ukunyakaza;
• Ukusetshenziswa kwezibuko noma amalensi okulungisa: ukunciphisa ubunzima bokubona nokubonakala kombono ophindwe kabili;
• Izinguquko ekondleni: phatha izinkinga ezihlobene nobunzima bokugwinya, ngokusebenzisa izinguquko ekubunjweni kokudla, isibonelo.

Ngaphezu kwalokho, udokotela futhi angancoma ukwenza amaseshini okwelapha ngokomzimba ukusiza isiguli ukunqoba ukulinganiselwa komzimba nokuhola impilo ezimele ekwenzeni imisebenzi yansuku zonke.

Enziwa kanjani amaseshini e-physiotherapy

Ukwelashwa ngokomzimba kwesifo sikaMachado-Joseph kwenziwa ngokuvivinya umzimba njalo ukusiza isiguli ukunqoba ukulinganiselwa okubangelwa yilesi sifo. Ngakho-ke, ngezikhathi ze-physiotherapy, imisebenzi ehlukahlukene ingasetshenziswa, kusukela ekwenzeni izivivinyo ukugcina ubukhulu bamalunga, ukufunda ukusebenzisa izinduku noma izihlalo ezinamasondo, ngokwesibonelo.

Ngaphezu kwalokho, i-physiotherapy ingafaka nokugwinya ukwelashwa kokuvuselela okunconywayo futhi kubalulekile kuzo zonke iziguli ezinobunzima bokugwinya ukudla, okuhlobene nokulimala kwemizwa okubangelwa yilesi sifo.

Ubani ongaba nalesi sifo

Isifo seMachado-Joseph sibangelwa ukuguqulwa kwezakhi zofuzo okuholela ekukhiqizweni kweprotheni, eyaziwa ngokuthi i-Ataxin-3, eqoqeka kumaseli obuchopho abangela ukukhula kwezilonda eziqhubekayo kanye nokuvela kwezimpawu.

Njengenkinga yofuzo, isifo sikaMachado-Joseph sivamile kubantu abaningana emndenini owodwa, sinethuba elingu-50% lokudlula lisuka kubazali liye ezinganeni. Uma lokhu kwenzeka, izingane zingaba nezimpawu zokuqala zalesi sifo ngaphambi kwabazali bazo.

Ukuxilongwa kwenziwa kanjani

Ezimweni eziningi, isifo seMachado-Joseph sibonwa ngokubheka izimpawu zesazi sezinzwa nokuphenya umlando womndeni wesifo.

Ngaphezu kwalokho, kukhona ukuhlolwa kwegazi, okwaziwa nge-SCA3, okukuvumela ukuthi ubone ukushintsha kofuzo okubanga lesi sifo. Ngaleyo ndlela, lapho unomuntu onalesi sifo emndenini, futhi uhlolwa, kungenzeka ukuthi uthole ukuthi yini ingozi yokuthola lesi sifo futhi.