Huntington ọrịa - Zoro ize ndụ

Medical akwụkwọ enye a nnọọ mgbagwoju definition nke ọrịa, nke a na-akpọ Huntington oria. Iji ghọta mmalite na e ji mara nke a egwu ọrịa, ọ dị mkpa na-akpa na-aghọta ihe ọ bụla okwu na-eji na ya definition.

The ọrịa a na-atụle ga-butere n'aka, autosomal achị. Nke a pụtara na ọrịa bụ mkpụrụ ndụ ihe nketa na ketara n'aka ma nne na nna, na-enwe dịkarịa ala otu mutated site n'usoro. The omume n'etiti nwoke na ndị nwanyị yiri.

Huntington ọrịa - a ọrịa na-adịghị ala-aga n'ihu. Ọ na-adịghị mesoo, ọ na-amalite nwayọọ nwayọọ, mgbe niile na-amụba ihe mgbaàmà, mgbe ụfọdụ, na-akpụ akpụ na nnukwu ogbo. The ọrịa a na-esokarị site na ọrịa uche, extrapyramidal aghara (ije ọrịa).

The pathogenesis nsogbu a, a mụwo nnọọ ka ogbonye. Otú ọ dị, ọ mara na ụmụ mmadụ na ọrịa bụ mgbe a ụkọ Geba (aminobutyric acid, nke bụ ihe kasị mkpa inhibitory ọgụgụ akwara mbufe ozi) na mkpụrụ ndụ ụbụrụ. Ka ọ dịgodị, na mkpụrụ ndụ nke substantia nigra emekarị enwekwu ego nke ígwè, e nwere nkọ ọrịa nke dopamine metabolism. Ụfọdụ ndị ọkachamara kweere na ọrịa Huntington ọrịa na-kpatara amụba n'agbụ nke amino asịd. N'ihi ya synthesized "ọjọọ" protein akpaghasị Biochemical Filiks na ụbụrụ.

Ọ na-ọma ike na ihe gbasara nke puru nke nwa nwere ọrịa na ezinụlọ media mebiri emebi site n'usoro bụ 1: 1 n'agbanyeghị nke mmekọahụ nke nwa.

Mgbaàmà nke Huntington si chorea

Huntington ọrịa a na-aghọ kwesiri ngosi na 30 afọ (mgbe ụfọdụ mgbe e mesịrị). Akpa, e nwere ndị nwere ọgụgụ isi aghara: a ibelata nke nsụhọ, "jam" na otu echiche. People ida ike nyochaa a na ọnọdụ na-na-ekwubi.

Nke nta nke nta ndị a na-anaghị ekwe ghọọ elu mgbaka. Onye ọrịa ngwa ngwa depleted uche, ọgụgụ isi agbazee kpamkpam ahụmahụ. Nke nta nke nta boo àgwà nke onye ọrịa.

Ke ukem, na-emepe emepe hyperkinetic ọrịa. Ọrịa na a nchoputa nke "Huntington ọrịa" involuntarily-amalite ime a otutu obere mmegharị, si otú adịkwa ike na-emepụta dị mfe omume. Dị ka ihe atụ, ịga ije so grimacing, à aka na m. P.

Huntington ọrịa abụghị otu. Mgbe ụfọdụ, karịsịa ná mmalite nkebi, ọrịa nwere ike mkpebisi ebelata ọbụna a ike hyperkinesis, na ndị ọzọ o nwere ike kwuru nnọọ ka ogbonye. Mgbaka ọrịa a na-esokarị, ma ogo ya ogo nwere ike dị iche iche. Mgbe ụfọdụ, ọrịa na, n'agbanyeghị nke ekpegara ùgwù ya, na-ha isi onwe, na mgbe ụfọdụ atụfu ya nnọọ ngwa ngwa. Gịnị mere otú ahụ na atụmatụ, na nkà mmụta ọgwụ na-adịghị ma guzosie ike.

Huntington oria. Na ịgwọ

Maka nchoputa, ọrịa ga-ata Lee, MRI. Abụkarị ndị a ọmụmụ na-aha atrophy nke ụbụrụ cortex na mgbanwe ya eletriki ọrụ, e nwere a na-akpọ indentation na thalamus.

N'ihi na nkwupụta nke nchoputa, dọkịta na-enyocha cerebrospinal ọmụmụ, na-amụ akụkọ ihe mere eme nke ọrịa na ezinụlọ. Taa ọtụtụ ndị na-ekesa usoro preclinical nchoputa maka ezinụlọ bụ ndị nọ n'ihe ize ndụ otu. Ya dị na uche nke lymphocytes na-amụ X-ụzarị. Children mụrụ na ezinụlọ ebe e nwere a ọrịa ụgbọelu, kwesịrị ịbụ na ahụ ike.

Huntington ọrịa enweghị ngwọta. Iji ikwado ọrịa na-arịa nwere ike kenyere okụre nke triftazine, reserpine na ndị ọzọ na dopamine akụ ọkpọ na tranquilizers.