Ingabe umzimba wakho uzizwa sengathi awusalawuleki? Ingabe kungaba yisifo sikaMachado-Joseph?

Wake wazizwa sengathi awusakwazi ukulawula, izitho zakho zomzimba ziphelelwe amandla, noma amazwi akho ayengacaci kahle lapho ukhuluma? Nakuba lezi zinto zingase zibonakale njengezinto ezivamile, ngezinye izikhathi zingaba izimpawu zesimo sezokwelapha. Namuhla sizokhuluma ngesimo esiyinkimbinkimbi kancane, kodwa esibaluleke kakhulu ukwazi ngaso. Leso yisifo iMachado-Joseph (MJD) .

Siyini isifo sikaMachado-Joseph (MJD)?

Kalula nje, isifo iMachado-Joseph (MJD) yisimo esizuzwe njengefa esithinta uhlelo lwethu lwezinzwa . Siwela esigabeni esibizwa ngokuthi i-ataxia . Igama elithi "Ataxia" lingase libe igama elisha kuwe. Lisho ukuthi ikhono lomzimba wethu lokulawula imisipha liyancipha kancane kancane. Cabanga ngakho njengomzimba wethu olahlekelwa ukuhambisana. Lokhu kungasibangela ukuba silahlekelwe ibhalansi futhi silahlekelwe ukulawula izitho zethu zomzimba.

Ku-MJD, ikakhulukazi, kukhona ukulahleka kancane kancane kokuxhumana kwezingalo nemilenze yethu. Lokhu kubangela iziguli ukuba zihambe ngendlela ehlukile nehamba kancane . Abanye abantu bangase babe nobunzima bokugwinya nokukhuluma.

Lesi sifo se-MJD sinelinye igama, okuyi -Spinocerebellar Ataxia uhlobo 3. Eqinisweni, le MJD uhlobo oluvame kakhulu lwaleli qembu lezifo ezibizwa ngokuthi i-spinocerebellar ataxia.

Ingabe kunezinhlobo ezahlukene zesifo iMachado-Joseph (MJD)?

Yebo, isifo iMachado-Joseph singahlukaniswa ngezinhlobo ezintathu eziyinhloko. Lokhu kuhlukaniswa kusekelwe eminyakeni yokuqala kanye nobunzima bezimpawu.

• Uhlobo I (MJD-I): Lolu hlobo luvame ukuqala phakathi kweminyaka eyi-10 nengama-30. Izimpawu zingaba zimbi kakhulu futhi ziqhubeke ngokushesha .
• Uhlobo II (MJD-II): Lokhu kuvame ukuqala phakathi kweminyaka engama-20 nengama-50. Izimpawu ziya ngokuya ziba zimbi ngokuhamba kwesikhathi.
• Uhlobo lwesithathu (MJD-III): Lolu hlobo luqala phakathi kweminyaka engama-40 nengama-70. Izimpawu ziya ngokuya ziba zimbi ngokuhamba kwesikhathi .

Manje cishe uyaqonda ukuthi ukuqala kwezimpawu kanye nohlobo lwazo kuhlukile kuzo zonke lezi zinhlobo ezintathu.

Ziyini izimpawu zesifo iMachado-Joseph (MJD)?

Izimpawu ozibonayo zincike ekutheni uhlobo luni lwe-MJD onalo.

Izimpawu zohlobo lwe-1 (MJD-I)

Izimpawu zalolu hlobo zinzima futhi zikhula ngokushesha. Zingafaka:

• Ukufinyela kwemisipha okungalawuleki ezingalweni nasemilenzeni (i-dystonia) .
• Ukuqina kwemisipha (ukuqina) .
• Ukuba nemisipha eminingi kakhulu (hypertonia) .
• Ukunyakaza komzimba okungajwayelekile nokungalawuleki (ataxia) .
• Ukuhamba okuhamba kancane, okuhamba kancane.
• Inkulumo engacacile, inkulumo engacacile.
• Ubunzima bokugwinya ukudla (i-dysphagia) .
• Amehlo avele ngaphandle (i-proptosis) .

Izimpawu zohlobo lwesibili (MJD-II)

Izimpawu zalolu hlobo ziya ngokuya ziba zimbi ngokuhamba kwesikhathi. Zingafaka:

• Ukufinyela kwemisipha okungalawulwayo nokuqhubekayo (ukuqaqamba) .
• Ubunzima bokuhamba ngenxa yokufinyela kwemisipha (ukuhamba okunamandla).
• Ubuthakathaka be-reflexes.
• Ubunzima bokuxhumanisa ukunyakaza kwezingalo nemilenze (ataxia) .

Izimpawu zohlobo lwesithathu (MJD-III)

Izimpawu zalolu hlobo zivame ukuba zimbi kakhulu ngokuhamba kwesikhathi. Zingafaka:

• Ukuqhaqhazela kwemisipha.
• Ukuba ndikindiki, ukuqaqamba, ubuhlungu, kanye nokuba ndikindiki ezandleni, ezinyaweni, emilenzeni nasezinyaweni (i-neuropathy) .
• Ukulahlekelwa yimisipha (ukulahlekelwa yizicubu zemisipha - ukuwohloka ).
• Ukuhamba okungazinzile.

Ezinye izimpawu ezivamile

Ngaphezu kwalezi zinhlobo, iziguli ze-MJD zingase zithole ezinye izimpawu eziningana:

• Ukubona okuphindwe kabili (i-diplopia) .
• Ukungakwazi ukulawula ukunyakaza kwamehlo (i-nystagmus) .
• Isandla siyathuthumela.
• Izinkinga ngokulinganisela nokuxhumana.
• Ukuqhaqhazela kolimi noma kobuso.
• Izinkinga zokulala.
• Ubuhlungu obungapheli emhlane ophansi.

Okubalulekile: Uma lezi zimpawu zenzeka ndawonye, ​​ungase uzibuze ukuthi ziyizimpawu zesinye isimo sezinzwa, njenge- multiple sclerosis noma isifo sikaParkinson . Ngakho-ke, uma uba nezimpawu ezintsha noma uma uphawu olukhona luba lubi kakhulu, ikakhulukazi uma luthinta ukunyakaza kwakho nokusebenzisa umzimba wakho, bona udokotela ngokushesha.

Yini ebangela isifo iMachado-Joseph (MJD)?

Imbangela enkulu yalesi sifo ukuguquka kwezakhi zofuzo zethu. Kufana nephutha elincane kukhodi yekhompyutha elingaphazamisa lonke uhlelo.

Ngokuqondile, lokhu kuguquka kwenzeka ku-gene ebizwa ngokuthi i-ATXN3 ku -chromosome yethu 14. Engxenyeni ye-DNA kulesi gene, kukhona ukuphindaphinda kwe-trinucleotide okuthiwa "i-CAG".Into okuthiwa iphindaphindwa izikhathi eziningana ngendlela engavamile. I-CAG imele amakhemikhali amathathu i-Cytosine-Adenine-Guanine.

Ku-DNA yomuntu ongena-MJD, lokhu kuphinda kwe-CAG kuphinda phakathi kwezikhathi eziyi-12 nezingama-43. Kodwa-ke, ku-DNA yomuntu one-MJD, lokhu kuphinda kwe-CAG kuphinda phakathi kwezikhathi ezingama-56 nezingama-86. Ubudala oqala ngabo ukuba nezimpawu kanye nobunzima besifo kuhlobene ngqo nenani lokuphindaphinda kwe-CAG.

Lesi simo sizuzwa njengefa ngendlela elawulwa yi-autosomal . Lokhu kusho ukuthi ingane idinga umzali oyedwa kuphela ukuze ibe ne-gene ukuze lesi sifo sikhule. Uma une-MJD, ingane yakho inethuba elingu-50% lokuthola lesi sifo njengefa.

Ubani osengozini enkulu yokuthola isifo iMachado-Joseph (MJD)?

I-MJD ivame kakhulu kubantu bozalo lwase-Azorean noma lwasePortugal . Esiqhingini saseFlores e-Azores, kubikwa ukuthi oyedwa kubantu abayi-140 unalesi sifo. Kodwa-ke, lokhu akusho ukuthi amanye amaqembu ezinhlanga awathinteki. Singathinta abantu banoma yiliphi iqembu lezinhlanga.

Isifo sikaMachado-Joseph (MJD) sitholakala kanjani?

Uma ubona udokotela, uzobuza ngezimpawu zakho futhi ahlole umzimba. Njengoba lesi simo sisebenza emindenini, kubalulekile ukukhuluma ngomlando womndeni wakho. Uma omunye umuntu emndenini wakho enalezi zimpawu, kubalulekile futhi ukubuza ukuthi izimpawu zakhe zaqala nini nokuthi zathuthuka ngokushesha kangakanani.

Ukuze kuqinisekiswe ukuxilongwa, udokotela wakho angase ancome ukuhlolwa kwezakhi zofuzo kwesifo iMachado-Joseph . Lokhu kuhlolwa kwezakhi zofuzo kungabheka inani lokuphindaphinda kwe-CAG triplet okusolisayo ku-chromosome yakho 14.

Isifo sikaMachado-Joseph (MJD) selashwa kanjani?

Ngeshwa, ayikho ikhambi lesifo iMachado-Joseph. Ukwelashwa kwe-MJD kuhloselwe ukuphatha izimpawu onazo. Imithi ingafaka:

• Imithi efana neBaclofen (Lioresal®) noma iBotulinum toxin (Botox®) isiza ekunciphiseni i-dystonia kanye nokuqaqamba kwemisipha okukhulunywe ngakho ngenhla.
• Ukwelashwa nge-Levodopa kusiza ekunciphiseni ukuhamba kancane nokuqina komzimba.

Ngaphezu kwalokho, ukwelashwa ngokomzimba kanye nemishini yokusiza kungasiza iziguli ukuthi zenze imisebenzi yansuku zonke futhi zihambe. Ngezinkinga zokubona, izibuko ze-prism zingasiza ekunciphiseni ukubona kabili noma ukubona okufiphele.

Buza udokotela wakho mayelana nokuhlolwa kwezokwelapha okwenziwayo kwalesi sifo.

Ingakanani iminyaka yokuphila komuntu onesifo iMachado-Joseph (MJD)?

Isikhathi sokuphila somuntu one-MJD sincike kuhlobo lwesifo anaso. Abantu abanohlobo I bangase baphile isikhathi esifushane, mhlawumbe baseminyakeni yabo ephakathi kuka-30. Kodwa-ke, abantu abanohlobo II noma uhlobo III bavame ukuphila isikhathi esijwayelekile.

Ingabe isifo sikaMachado-Joseph (MJD) singavinjelwa?

Ngenxa yokuthi i-MJD iyisifo esibangelwa izakhi zofuzo, ayinakuvinjelwa. Uma ukhathazekile ngokuthi izingane zakho zingase zizuze lesi sifo njengefa, kubalulekile ukukhuluma nomeluleki wezakhi zofuzo ngaphambi kokuhlela ukukhulelwa. Kungase kube nezindlela zokuvimbela i-MJD ukuthi idluliselwe ezinganeni zakho ngokuhlolwa kwezakhi zofuzo nge -In Vitro Fertilization (IVF) .

Kufanele ngimbone nini udokotela?

Uma unezimpawu zesifo iMachado-Joseph, bona udokotela. Uma othile emndenini wakho enalesi sifo, kuwumqondo omuhle ukukhuluma nodokotela wakho ngengozi yakho yokuthola lesi sifo.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma kutholakale ukuthi une-MJD, ungase ufune ukubuza udokotela wakho imibuzo efana nalokhu:

• Nginaluphi uhlobo lwesifo?
• Ingabe izimpawu zami zizoba zimbi kakhulu ngokuhamba kwesikhathi?
• Hlobo luni lokwelashwa olunconywayo?
• Ingabe izingane zami zizozuza i-MJD kimi?

Kuvamile ukuba nemibuzo eminingi nemizwa uma uthola ukuxilongwa okufana nesifo iMachado-Joseph (MJD). Cela ukwesekwa kulabo abaseduze nawe. Futhi, yiba yingxenye esebenzayo ekwelashweni kwakho - gcina ama-aphoyintimenti akho, landela imiyalelo kadokotela wakho, futhi ubuze imibuzo. Ungakhuluma nomeluleki wezempilo yengqondo ukuze ufunde ukuthi ungabhekana kanjani nalesi simo. Ungayicindezeli imizwa yakho. Khuluma nabangani, umeluleki, noma iqembu lokusekela. Khumbula, awuwedwa.

Umlayezo Wokuya Nawe Ekhaya

Isifo iMachado-Joseph (MJD) yisifo esizuzwe njengefa esithinta isimiso sethu sezinzwa. Singathinta izinto ezifana nokulinganisela kanye nokulawula imisipha. Izimpawu ziyahlukahluka kuye ngohlobo lwesifo.

Nakuba kungekho ikhambi lalokhu okwamanje, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu. Izinto ezifana nokwelashwa ngokomzimba namadivayisi okusiza zingenza impilo ibe lula. Uma unalezi zimpawu, noma uma othile emndenini wakho enalesi simo, kungcono ukufuna iseluleko sezokwelapha ngokushesha okukhulu. Khumbula, ngolwazi olufanele kanye nokusekelwa, ungabhekana nalesi simo.

Isifo sikaMachado -Joseph, i-MJD, i-spinocerebellar ataxia, i-ataxia, izifo zemizwa, izifo zofuzo, izifo ezizuzwe njengefa