Ingozi Obebufihliwe - Huntington kaThixo

iincwadi reference Medical ukunika inkcazelo entsonkothileyo kakhulu zesi sifo, leyo kuthiwa Huntington kaThixo. Ukuze siqonde imvelaphi kunye neempawu kwesi sifo eyoyikekayo, kubalulekile ukuqonda kuqala oko kwikota nganye lisetyenziswa ngokuchaza yayo.

Isifo ithathwa ngokuba ilifa, lubalaseleyo autosomal. Oku kuthetha ukuba esi sifo yemfuza ilifa nokuba umzali, ukuba ubuncinane omnye isakhi mutated. Iziganeko phakathi amakhwenkwe kunye namantombazana ezifanayo.

Huntington kaThixo - sisifo okuqhubekayo esingapheliyo. It is singanyangwa, yenzeka kancinci, rhoqo ukwandisa iimpawu, maxa wambi lihamba kwinqanaba oyingozi. Isifo lusoloko ephelekwa ukuphazamiseka kwengqondo, ukuphazamiseka extrapyramidal (iingxaki movement).

Le Pathogenesis yale sifo kufundwe kakubi kakhulu. Nangona kunjalo, kuyaziwa ukuba abantu abagulayo basoloko unqongophalo Gaba (aminobutyric acid, nto leyo ke neurotransmitter ibalulekileyo inhibitory) iiseli ebuchotsheni. Ngelo xesha, kwiiseli ze nigra substantia ngokuqhelekileyo kwandisa isixa yesinyithi, kukho ukuphazamiseka ezibukhali nethe dopamine. Ezinye iingcali zikholelwa ukuba isifo Huntington xa kubangwa kululwa neentsontelo asidi acid. Ngenxa yoko kuhlelwe protein "ephosakeleyo," ukuphazamisa iinkqubo kwemichiza apha ebuchotsheni.

Kokuba kufunyaniswe ukuba amathuba okufumana umntwana nesi sifo kwi zofuzo eendaba usapho ezonakeleyo 1: 1 nokuba besini umntwana.

Iimpawu chorea Huntington kaThixo

Huntington kaThixo uqobo uba buqapheleke ukuya kwiminyaka engama-30 (ngamanye amaxesha kamva). Okokuqala, kukho sigulo ngokwasengqondweni: a licuthe ezingqondweni, "jam" kumbono omnye. Abantu balahlekelwe ikhono ukuhlalutya imeko kunye nezigqibo.

Ngokuthe ngcembe ezi ukuphazamiseka ukuphuhlisa zibe komqondo phambili. Isigulana ingqondo uyaphela ngokukhawuleza, ingqondo isidima ubalekela amava. Ngokuthe ngcembe bayilungisa nobuntu isigulane.

Ngaxeshanye, asakhasayo ukuphazamiseka hyperkinetic. Izigulane unesifo "Huntington kaThixo" baqale engathandi ukwenza ezininzi iintshukumo ezincinane, ngaleyo ndlela alahlekelwe ukukwazi ukuvelisa amanyathelo alula. Umzekelo, ukuhamba sikhatshwe kwenaliti, ephethe izandla m. P.

Huntington alikho efanayo. Ngamanye amaxesha, ingakumbi xa usaqala, izigulane okuyeka ukucinezela nkqu hyperkinesis nkqi, kwaye kwezinye iimeko ungaboniswa kakubi kakhulu. isifo sengqondo esixhalabisayo njalo luhambisana, kodwa iqondo namandla aso inokuba nomahluko. Ngamanye amaxesha izigulane, nakuba ukonakala ngcembe, gcina core yabo, yaye maxa wambi wolahlekelwa nguwo ngokukhawuleza kakhulu. Yintoni ebangela ukuba izinto ezinjalo, iyeza ayikenziwa lusekiwe.

Huntington kaThixo. Isifo kwaye afumane unyango

Ukuba kuyokufunyaniswa isifo, izigulane kufuneka bangenele EEG, MRI. Ngokuqhelekileyo ezi izifundo yoma le neuron kunye utshintsho kumsebenzi wayo zombane ebhalisiweyo, kukho ekuthiwa isibotho kunye thalamus.

Ukuze ufake isifo, kwakhona oogqirha wabancina ulwelo lwe-cerebrospinal, ukufunda imbali kwesi sifo entsatsheni. Namhlanje ngakumbi nangakumbi yasasazwa indlela moshilongo preclinical iintsapho abo kwiqela womngcipheko wePhondo. Ihlala uvakalelo lymphocyte ukuba bafunde-X-reyi. Abantwana abazalelwe kwiintsapho apho kukho carrier isifo, kufuneka kwiirekhodi zonyango.

Huntington likaThixo nokuba uyabulala. Ukwenzela ukulungiselela imeko yomguli linokukwenziwa ukuba izakhiwo triftazine, reserpine kunye nezinye bachasene dopamine kunye uxinezeleko.