Yintoni iDopamine Deficiency Syndrome?

Umxholo

• Ziintoni iimpawu?
• Yintoni ebangela le meko?
• Ngubani osemngciphekweni?
• Kufunyaniswa njani?
• Inyangwa njani?
• Ichaphazela njani ixesha lokuphila?

Ngaba oku kuqhelekile?

Ukusilela kwesifo se-Dopamine yimeko enqabileyo yelifa elinamatyala angama-20 kuphela aqinisekisiweyo. Kukwaziwa njenge-dopamine transporter defence syndrome kunye ne-infantile parkinsonism-dystonia.

Le meko ichaphazela amandla omntwana okuhambisa umzimba kunye nezihlunu. Nangona iimpawu zihlala zivela ebusaneni, zisenokungabonakali kude kube sebuntwaneni.

Iimpawu ziyafana nezo ezinye iingxaki zokuhamba, ezinje ngesifo solutsha lweParkinson. Ngenxa yoku, kuhlala kuhleli Abanye abaphandi bacinga ukuba yinto exhaphakile kunokuba bebecinga njalo ngaphambili.

Le meko iyaqhubeka, oko kuthetha ukuba iya isiba mandundu ngokuhamba kwexesha. Akukho lunyango, ke unyango lujolise ekulawuleni iimpawu.

Qhubeka ufunda ukuze ufunde ngakumbi.

Ziintoni iimpawu?

Iimpawu zihlala zifana ngaphandle kokukhula kweminyaka. Oku kunokubandakanya:

• izihlunu zemithambo
• ukudumba kwezihlunu
• ukungcangcazela
• izihlunu zihamba kancinci (bradykinesia)
• ukuqina kwemisipha (ukuqina)
• ukuqhina
• kunzima ukutya nokuginya
• kunzima ukuthetha nokwenza amagama
• iingxaki zokubamba umzimba kwindawo emileyo
• ubunzima ngokulingana xa umile kwaye uhamba
• iintshukumo zamehlo ezingalawulekiyo

Ezinye iimpawu zingabandakanya:

• isifo se-reflux sesifo se-gastroesophageal (GERD)
• ukuqhawuka rhoqo kwenyumoniya
• ubunzima bokulala

Yintoni ebangela le meko?

Ngokutsho kweLayibrari yeSizwe yezeMithi yase-U.S. Esi sifo sibangelwa lutshintsho SLC6A3 Uhlobo. Olu hlobo lubandakanyeka ekwenziweni kweprotein yokuhambisa i-dopamine. Le protein ilawula ukuba ingakanani i-dopamine ehanjiswa ukusuka kwingqondo iye kwiiseli ezahlukeneyo.

I-Dopamine ibandakanyeka kuyo yonke into ukusuka kukuqonda kunye nemood, ukubanakho ukulawula ukunyakaza komzimba. Ukuba inani le-dopamine kwiiseli liphantsi kakhulu, linokuchaphazela ukulawulwa kwemisipha.

Ngubani osemngciphekweni?

Ukunqongophala kwesifo esichaphazeleka kukuphazamiseka sisifo semfuza, oko kuthetha ukuba umntu uzelwe enaso. Owona mngcipheko uphambili kukwakheka kwemfuza yabazali bomntwana. Ukuba bobabini abazali banekopi enye yokutshintsha SLC6A3 ufuzo, umntwana wabo uya kufumana iikopi ezimbini zohlobo olutshintshileyo kwaye basizuze njengelifa esi sifo.

Kufunyaniswa njani?

Amaxesha amaninzi, ugqirha womntwana wakho angenza isifo emva kokujonga nayiphi na imiceli mngeni abanokuba nayo ngokulinganisela okanye ukuhamba. Ugqirha uya kuqinisekisa ukuxilongwa ngokuthatha isampuli yegazi ukuvavanya imeko yemakishi yemfuza.

Banokuthatha isampulu yecebrospinal fluid ukukhangela iiasidi ezinxulumene nedopamine. Oku kwaziwa njenge.

Inyangwa njani?

Akukho sicwangciso sonyango simiselweyo kule meko. Uvavanyo kunye nephutha zihlala ziyimfuneko ukumisela ukuba ngawaphi amayeza anokusetyenziselwa ulawulo lweempawu.

baye baphumelela ngakumbi ekulawuleni ezinye iingxaki zokuhamba ezinxulumene nemveliso ye-dopamine. Umzekelo, i-levodopa isetyenziswe ngempumelelo ukunciphisa iimpawu zesifo sika-Parkinson.

I-Ropinirole kunye nepramipexole, ezichasene ne-dopamine, zisetyenziselwe ukunyanga isifo sika-Parkinson kubantu abadala. Abaphandi basebenzise eli nyango kwi-dopamine defence syndrome. Nangona kunjalo, uphando oluninzi luyafuneka ukumisela iziphumo ezinokubakho zexesha elifutshane kunye nexesha elide.

Ezinye iindlela zokunyanga nokulawula iimpawu ziyafana nezinye iingxaki zokuhamba. Oku kubandakanya amayeza kunye notshintsho kwindlela yonyango:

• ukuqina kwemisipha
• usulelo lwemiphunga
• iingxaki zokuphefumla
• IGERD
• ukuqhina

Ichaphazela njani ixesha lokuphila?

Iintsana nabantwana abane-dopamine transporter defence syndrome banokuba nexesha elifutshane lobomi. Kungenxa yokuba zichaphazeleka lula kwizifo ezisongela ubomi emiphungeni kunye nezinye izifo zokuphefumla.

Ngamanye amaxesha, imbonakalo yomntwana iyathandeka ngakumbi ukuba iimpawu zabo aziveli ebusaneni.