Ngaba umzimba wakho uvakalelwa kukuba awusalawuleki? Ngaba sisifo sikaMachado-Joseph?

Ngaba wakha waziva ngathi awulawuleki, amalungu akho engasebenzi kakuhle, okanye amazwi akho ayengacaci xa uthetha? Nangona ezi zinto zinokubonakala ngathi zizinto eziqhelekileyo, ngamanye amaxesha zinokuba ziimpawu zesifo. Namhlanje siza kuthetha ngemeko enzima kancinci, kodwa ebaluleke kakhulu ukwazi ngayo. Leyo yiMachado -Joseph Disease (MJD) .

Yintoni isifo sikaMachado-Joseph (MJD)?

Ngamafutshane, isifo sikaMachado-Joseph (MJD) sisifo esizuzwe njengelifa esichaphazela inkqubo yethu yemithambo-luvo . Siwela kudidi olubizwa ngokuba yi-ataxia . Igama elithi "Ataxia" lisenokuba ligama elitsha kuwe. Lithetha ukuba amandla omzimba wethu okulawula izihlunu ayancipha kancinci kancinci. Cinga ngaso njengomzimba wethu olahlekelwa kukulungelelana. Oku kunokubangela ukuba silahlekelwe kukulinganisela kwaye silahlekelwe kukulawula amalungu ethu omzimba.

Kwi-MJD, ngakumbi, kukho ukulahleka kancinci kancinci kokulungelelaniswa kweengalo zethu nemilenze. Oku kubangela ukuba izigulana zihambe ngendlela eyahlukileyo neyahlukileyo . Abanye abantu banokuba nobunzima bokuginya nokuthetha.

Esi sifo se-MJD sinelinye igama, eliyi -Spinocerebellar Ataxia type 3. Enyanisweni, le MJD lolona hlobo luqhelekileyo kolu qela lwezifo olubizwa ngokuba yi-spinocerebellar ataxia.

Ngaba kukho iintlobo ezahlukeneyo zesifo sikaMachado-Joseph (MJD)?

Ewe, isifo sikaMachado-Joseph sinokwahlulwa sibe ziintlobo ezintathu eziphambili. Olu hlobo lusekelwe kubudala bokuqala kwaso kunye nobunzima beempawu zaso.

• Uhlobo I (MJD-I): Olu hlobo ludla ngokuqala phakathi kweminyaka eli-10 nengama-30 ubudala. Iimpawu zinokuba nzima kakhulu kwaye ziqhubeke ngokukhawuleza .
• Uhlobo lwesibini (MJD-II): Oku kudla ngokuqala phakathi kweminyaka engama-20 nama-50 ubudala. Iimpawu ziya zisiba mandundu kancinci kancinci ngokuhamba kwexesha.
• Uhlobo lwesithathu (MJD-III): Olu hlobo luqala phakathi kweminyaka engama-40 ukuya kwengama-70 ubudala. Iimpawu ziya zisiba mandundu kancinci kancinci ngokuhamba kwexesha .

Ngoku mhlawumbi uyaqonda ukuba ukuqala kweempawu kunye nohlobo lwazo kwahlukile kuzo zonke ezi ntlobo zintathu.

Zithini iimpawu zesifo sikaMachado-Joseph (MJD)?

Iimpawu ozifumanayo zixhomekeke kuhlobo lwe-MJD onayo.

Iimpawu zohlobo lwe-I (MJD-I)

Iimpawu zolu hlobo zinzima kwaye zikhula ngokukhawuleza. Zingabandakanya:

• Ukuxinana kwemisipha okungalawulekiyo kwiingalo nasemilenzeni (i-dystonia) .
• Ukuqina kwemisipha (ukuqina) .
• Ukuba nemisipha emininzi kakhulu (hypertonia) .
• Iintshukumo zomzimba ezingaqhelekanga nezingalawulekiyo (ataxia) .
• Ukuhambahamba okuhambayo nokungakhathaliyo.
• Intetho engacacanga, intetho engacacanga.
• Ubunzima bokuginya ukutya (dysphagia) .
• Amehlo avele ngaphandle (i-proptosis) .

Iimpawu zohlobo lwesibini (MJD-II)

Iimpawu zolu hlobo ziya zisiba mandundu ngokuhamba kwexesha. Zingabandakanya:

• Ukuxinana kwemisipha okungapheliyo nokungalawulekiyo (ukuxinana kwemisipha) .
• Ubunzima bokuhamba ngenxa yokuxinana kwemisipha (i-spastic gait).
• Ubuthathaka be-reflexes.
• Ubunzima bokulungelelanisa iintshukumo zeengalo nemilenze (ataxia) .

Iimpawu zohlobo lwesithathu (MJD-III)

Iimpawu zolu hlobo zidla ngokuba mandundu ngokuhamba kwexesha. Zingabandakanya:

• Ukushukuma kwemisipha.
• Ukuba ndindisholo, ukurhawuzelela, iintlungu, kunye nokuba ndindisholo ezandleni, ezinyaweni, emilenzeni, nasezinyaweni (neuropathy) .
• Ukuphelelwa ngamandla kwemisipha (ukulahlekelwa zizicubu zemisipha - ukudinwa ).
• Ukuhamba okungazinzanga.

Ezinye iimpawu eziqhelekileyo

Ukongeza kwezi ntlobo, izigulane ze-MJD zinokufumana ezinye iimpawu ezininzi:

• Ukubona kabini (i-diplopia) .
• Ukungakwazi ukulawula iintshukumo zamehlo (i-nystagmus) .
• Isandla siyangcangcazela.
• Iingxaki ngokulinganisela kunye nokulungelelanisa.
• Ukushukuma kolwimi okanye ubuso.
• Iingxaki zokulala.
• Iintlungu ezingapheliyo zomqolo osezantsi.

Kubalulekile: Xa ezi mpawu zisenzeka kunye, unokuzibuza ukuba ngaba ziimpawu zesinye isifo semithambo-luvo, esifana ne -multiple sclerosis okanye isifo sikaParkinson . Ke ngoko, ukuba ubonakalisa iimpawu ezintsha okanye ukuba uphawu olukhoyo luya lusiba mandundu, ingakumbi ukuba luchaphazela intshukumo yakho kunye nokusetyenziswa komzimba wakho, bona ugqirha ngoko nangoko.

Yintoni ebangela isifo sikaMachado-Joseph (MJD)?

Eyona nto ibangela esi sifo kukuguquka kwezakhi zofuzo zethu. Kufana nempazamo encinci kwikhowudi yekhompyutha enokonakalisa yonke inkqubo.

Ngokukodwa, olu tshintsho lwenzeka kwijini ebizwa ngokuba yi -ATXN3 kwi- chromosome yethu 14. Kwicandelo le-DNA kweli jini, kukho ukuphindaphinda kwe-trinucleotide okubizwa ngokuba yi-"CAG".Into ekuthiwa iphindaphindwa izihlandlo ezininzi ngendlela engaqhelekanga. I-CAG imele iikhompawundi ezintathu zeekhemikhali iCytosine-Adenine-Guanine.

Kwi-DNA yomntu ongena-MJD, olu phindo lwe-CAG luphindwa phakathi kwezihlandlo ezili-12 nezingama-43. Nangona kunjalo, kwi-DNA yomntu one-MJD, olu phindo lwe-CAG luphindwa phakathi kwezihlandlo ezingama-56 nezingama-86. Ubudala oqala ngabo ukuba neempawu kunye nobunzima besifo bunxulumene ngokuthe ngqo nenani lophindo lwe-CAG.

Le meko izuzwe njengelifa ngendlela elawulayo ye-autosomal . Oku kuthetha ukuba umntwana udinga umzali omnye kuphela ukuze abe ne-gene ukuze esi sifo sikhule. Ukuba une-MJD, umntwana wakho unethuba elingama-50% lokufumana esi sifo.

Ngubani osengozini enkulu yokufumana isifo iMachado-Joseph (MJD)?

I-MJD ixhaphake kakhulu kubantu base-Azorean okanye basePortugal . Kwisiqithi saseFlores e-Azores, kuxelwe ukuba umntu omnye kwabayi-140 unesifo. Nangona kunjalo, oku akuthethi ukuba amanye amaqela eentlanga awachaphazeleki. Inokuchaphazela abantu balo naliphi na iqela leentlanga.

Isifo sikaMachado-Joseph (MJD) sifunyanwa njani?

Xa ubona ugqirha, uza kukubuza ngeempawu zakho aze akuhlole ngokwasemzimbeni. Ekubeni le meko ichaphazela iintsapho, kubalulekile ukuthetha ngembali yosapho lwakho. Ukuba kukho omnye umntu kusapho lwakho onale mpawu, kubalulekile ukubuza ukuba iimpawu zakhe zaqala nini kwaye zaqhubeka ngokukhawuleza kangakanani.

Ukuqinisekisa ukuxilongwa, ugqirha wakho unokucebisa uvavanyo lwemfuza lwesifo sikaMachado-Joseph . Olu vavanyo lwemfuza lunokujonga inani leempendulo ze-CAG triplet ezikrokrelekayo kwi-chromosome 14 yakho.

Isifo sikaMachado-Joseph (MJD) sinyangwa njani?

Ngelishwa, akukho nyango lwesifo sikaMachado-Joseph. Unyango lwe-MJD lujolise ekulawuleni iimpawu onazo. Amayeza angaquka:

• Amayeza anjengeBaclofen (Lioresal®) okanye iBotulinum toxin (Botox®) anceda ekunciphiseni i-dystonia ekhankanyiweyo kunye nokuxinana kwemisipha.
• Unyango lweLevodopa lunceda ekunciphiseni ukucotha nokuqina kweentshukumo zomzimba.

Ukongeza, unyango lomzimba kunye nezixhobo zokuncedisa zinokunceda izigulane ukuba zenze imisebenzi yemihla ngemihla kwaye zihambehamba. Kwiingxaki zokubona, iiglasi zeprism zinokunceda ukunciphisa ukubona kabini okanye ukubona okufipheleyo.

Buza ugqirha wakho malunga novavanyo lweklinikhi lwesi sifo.

Ingakanani iminyaka yobomi bomntu onesifo iMachado-Joseph (MJD)?

Ubungakanani bobomi bomntu one-MJD buxhomekeke kuhlobo lwesifo anaso. Abantu abanohlobo I banokuba nobomi obufutshane, mhlawumbi bephakathi kweminyaka engama-30. Nangona kunjalo, abantu abanohlobo II okanye uhlobo III badla ngokuphila ubomi obuqhelekileyo.

Ngaba isifo sikaMachado-Joseph (MJD) singathintelwa?

Ngenxa yokuba i-MJD sisifo semfuza, ayinakuthintelwa. Ukuba ukhathazekile ukuba abantwana bakho banokufumana esi sifo njengelifa, kubalulekile ukuthetha nomcebisi wemfuza ngaphambi kokuba ucebe ukukhulelwa. Kunokubakho iindlela zokuthintela i-MJD ukuba ingadluliselwa kubantwana bakho ngovavanyo lwemfuza nge -In Vitro Fertilization (IVF) .

Ndifanele ndimbone nini ugqirha?

Ukuba uneempawu zesifo saseMachado-Joseph, bona ugqirha. Ukuba kukho umntu kusapho lwakho onesifo, kungcono ukuthetha nogqirha wakho malunga nomngcipheko wakho wokuba nesi sifo.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ukuba ufunyaniswe une-MJD, ungabuza ugqirha wakho imibuzo efana nale:

• Luhlobo luni lwesifo endinaso?
• Ngaba iimpawu zam ziya kuba mandundu ekuhambeni kwexesha?
• Luhlobo luni lonyango olucetyiswayo?
• Ngaba abantwana bam baza kufumana ilifa le-MJD kum?

Kuqhelekile ukuba nemibuzo emininzi kunye neemvakalelo xa ufumana isifo esifana nesifo sikaMachado-Joseph (MJD). Cela inkxaso kwabo basondeleyo kuwe. Kwakhona, yiba ngumthathi-nxaxheba okhutheleyo kunyango lwakho - gcina amadinga akho, landela imiyalelo kagqirha wakho, kwaye ubuze imibuzo. Ungathetha nomcebisi wezempilo yengqondo ukuze ufunde indlela yokujongana nale meko. Musa ukuyicinezela iimvakalelo zakho. Thetha nabahlobo, umcebisi, okanye iqela lenkxaso. Khumbula, awuwedwa.

Umyalezo Wokuya Ekhaya

Isifo sikaMachado-Joseph (MJD) sisifo esizuzwe njengelifa esichaphazela inkqubo yethu yemithambo-luvo. Sinokuchaphazela izinto ezifana nokulinganisela kunye nokulawula izihlunu. Iimpawu ziyahluka ngokuxhomekeke kuhlobo lwesifo.

Nangona kungekho nyango loku okwangoku, kukho unyango olunokunceda ukulawula iimpawu. Izinto ezifana nonyango lomzimba kunye nezixhobo zokuncedisa zinokwenza ubomi bube lula. Ukuba unale mpawu, okanye ukuba kukho umntu kusapho lwakho onale meko, kungcono ukufuna ingcebiso yezonyango ngokukhawuleza. Khumbula, ngolwazi olufanelekileyo kunye nenkxaso, ungamelana nale meko.

Isifo sikaMachado -Joseph, i-MJD, i-Spinocerebellar ataxia, i-ataxia, izifo ze-neurological, izifo ze-genetic, izifo ezizuzwe njengelifa