Huntington chirwere

Huntington chirwere (HD) chirwere chemajini umo maseru etsinga mune mamwe mativi ehuropi anoparara, kana kupera. Chirwere chinopfuudzwa kuburikidza nemhuri.

HD inokonzerwa nehurema hwechibereko pane chromosome 4. Kukanganisika kunokonzera kuti chikamu cheDNA chiitike kakawanda kupfuura zvazvinofanirwa kunge zvichiitwa. Kuremara uku kunodaidzwa kuti CAG kudzokorora. Kazhinji, chikamu ichi cheDNA chinodzokororwa kagumi kana makumi maviri nemasere. Asi muvanhu vane HD, inodzokororwa ka36 kusvika 120 nguva.

Sezvo jeni richipfuudzwa kuburikidza nemhuri, huwandu hwekudzokorora hunowedzera kukura. Iyo yakakura nhamba yekudzokorora, inowedzera mukana wemunhu wekuvandudza zviratidzo pazera rekutanga. Naizvozvo, hosha painopfuudzwa mumhuri, zviratidzo zvinokura pazera revadiki uye vadiki.

Kune maviri mafomu eHD:

• Kukura kwevanhu vakuru ndiko kwakajairika. Vanhu vane fomu iyi vanowanzo kuve nezviratidzo mukati memakumi matatu emakore kana makumi mana.
• Kutanga-kutanga kunokanganisa vashoma vanhu uye kunotanga muhucheche kana kuyaruka.

Kana mumwe wevabereki vako aine HD, iwe une 50% mukana wekuwana iyo geni. Kana iwe ukawana iyo geni kubva kuvabereki vako, unogona kuipfuudza kune vana vako, avo vanozovewo vane 50% mukana wekuwana iyo geni. Ukasawana geni kubva kuvabereki vako, haugone kupfuudza geni kuvana vako.

Hunhu husina kujairika hunogona kuitika matambudziko ekufamba asati akura, uye anogona kusanganisira:

• Kuvhiringidzika kwemaitiro
• Hallucinations
• Kushatirwa
• Kunzwisisa
• Kusagadzikana kana kuzungaira
• Paranoia
• Psychosis

Kufambisa uye kujairika kufamba kunosanganisira:

• Kufamba kwechiso, kusanganisira grimaces
• Musoro kutendeuka kuchinjisa ziso chinzvimbo
• Inokurumidza, kamwe-kamwe, dzimwe nguva kufamba kwechisimba kwemaoko, makumbo, kumeso, uye zvimwe zvikamu zvemuviri
• Inononoka, isingadzoreki mafambiro
• Kusadzikama kufamba, kusanganisira "prancing" uye kufamba kwakawanda

Kufamba kusingaenzaniswi kunogona kukonzera kudonha.

Dementia inononoka kuwedzera, kusanganisira:

• Kuvhiringidzika kana kuvhiringidzika
• Kurasikirwa kwekutonga
• Kurasika kwendangariro
• Unhu hunochinja
• Kutaura kunochinja, sekumira paunenge uchitaura

Zvimwe zviratidzo zvinogona kusangana nechirwere ichi zvinosanganisira:

• Kuzvidya mwoyo, kushushikana, uye kusagadzikana
• Zvakaoma kumedza
• Kukanganisa kutaura

Zviratidzo muvana:

• Rigidity
• Zvishoma nezvishoma kufamba
• Kudedera

Anopa hutano anoita bvunzo dzepanyama uye anogona kubvunza nezve nhoroondo yemhuri yemurwere nezviratidzo. Kuongorora kweiyo nervous system kuchaitwawo.

Mimwe bvunzo inogona kuratidza zviratidzo zvehosha yeHuntington inosanganisira:

• Kuyedza kwepfungwa
• Musoro CT kana MRI scan
• PET (isotope) kuongorora kwehuropi

Kuongorora kweGenetic kunowanikwa kuti uone kana munhu akatakura geni rechirwere cheHuntington.

Hakuchina mushonga weHD. Hapana nzira inozivikanwa yekumisa chirwere ichi kubva pakuwedzera. Chinangwa chekurapa ndechekunonoka zviratidzo uye kubatsira munhu basa kwenguva yakareba sezvinobvira.

Mishonga inogona kupihwa, zvinoenderana nezviratidzo.

• Dopamine blockers inogona kubatsira kudzikisira maitiro asina kujairika uye mafambiro.
• Mishonga yakadai seamantadine uye tetrabenazine inoshandiswa kuyedza kudzora mamwe mafambiro.

Kushungurudzika uye kuzviuraya zvakajairika pakati pevanhu vane HD. Izvo zvakakosha kune vanochengeta kuti vatarise zviratidzo uye kutsvaga rubatsiro rwekurapa kumunhu ipapo ipapo.

Sezvo chirwere ichi chichienderera mberi, munhu wacho achazoda rubatsiro nekutarisirwa, uye anogona kuzopedzisira achida 24-awa yekuchengetwa.

Izvi zviwanikwa zvinogona kupa rumwe ruzivo nezve HD:

• Huntington's Disease Society yeAmerica - hdsa.org
• NIH Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/huntington-disease

HD inokonzeresa hurema hunowedzera nekufamba kwenguva. Vanhu vane HD vanowanzofa mukati memakore gumi nemashanu kusvika makumi maviri. Chikonzero cherufu kazhinji hutachiona. Kuzviuraya kunowanzoitikawo.

Izvo zvakakosha kuti uzive kuti HD inobata vanhu zvakasiyana. Huwandu hweCAG hunodzokorora hunogona kuona kuomarara kwezviratidzo. Vanhu vane mashoma anodzokororwa vanogona kunge vaine zvinyoro zvisina kujairika kufamba mumashure muhupenyu uye kunonoka kufambira mberi kwechirwere. Avo vane huwandu hukuru hwekudzokorora vanogona kukanganiswa zvakanyanya pazera diki.

Fonera waunopa kana iwe kana nhengo yemhuri muchikura zviratidzo zveHD.

Genetic counselling inokurudzirwa kana paine nhoroondo yemhuri yeHD. Nyanzvi dzinokurudzirawo kurairirwa kwemajini kune vakaroora vane nhoroondo yemhuri yechirwere ichi vari kufunga kuve nevana.

Huntington chorea

Caron NS, Wright GEB, Hayden MR. Huntington chirwere. Mune: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: Yunivhesiti yeWashington. www.nodai.nlm.nih.gov/books/NBK1305. Yakagadziridzwa Chikunguru 5, 2018. Yakasvika muna Chivabvu 30, 2019.

Jankovic J. Parkinson chirwere uye zvimwe zvinetso zvekufamba. Mune: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology muClinical Dzidzira. 7th ed. Philadelphia, PA: Elsevier; 2016: chits. 96.