Matenda a Huntington

Matenda a Huntington (HD) ndimatenda amtundu womwe m'maselo amitsempha m'malo ena a ubongo amawonongeka, kapena kuwonongeka. Matendawa amapatsirana kudzera m'mabanja.

HD imayambitsidwa ndi vuto la chibadwa pa chromosome 4. Vutoli limapangitsa kuti gawo la DNA lichitike nthawi zambiri kuposa momwe liyenera kukhalira. Vutoli limatchedwa kubwereza kwa CAG. Nthawi zambiri, gawo ili la DNA limabwerezedwa nthawi 10 mpaka 28. Koma mwa anthu omwe ali ndi HD, imabwerezedwa 36 mpaka 120.

Pamene jini imadutsa m'mabanja, kuchuluka kwa kubwereza kumayamba kukulira. Kuchuluka kwa kubwereza, kumawonjezera mwayi wamunthu wokhala ndi zizindikiritso ali wachinyamata. Chifukwa chake, matendawa akamapitilira m'mabanja, zizindikilo zimayamba ali achichepere komanso achichepere.

Pali mitundu iwiri ya HD:

• Kuyamba kwa achikulire ndikofala kwambiri. Anthu omwe ali ndi mawonekedwewa nthawi zambiri amakhala ndi zizindikilo pakati pa 30s kapena 40s.
• Kuyamba koyambirira kumakhudza anthu ochepa ndipo kumayambira ali mwana kapena achinyamata.

Ngati m'modzi mwa makolo anu ali ndi HD, muli ndi mwayi wopeza jini 50%. Ngati mutenga jiniyo kuchokera kwa makolo anu, mutha kuipatsira ana anu, omwe adzakhale ndi mwayi wa 50% wopeza geni. Ngati simutenga jiniyo kuchokera kwa makolo anu, simungapatse jiniyo kwa ana anu.

Makhalidwe abwinobwino amatha kuchitika mavuto asanafike, ndipo atha kukhala:

• Kusokonezeka kwamakhalidwe
• Ziwerengero
• Kukwiya
• Khalidwe labwino
• Kupumula kapena kusakhazikika
• Paranoia
• Kusokonezeka maganizo

Kusuntha kosazolowereka ndi kachilendo kumaphatikizapo:

• Kuyenda nkhope, kuphatikiza ma grimace
• Mutu kutembenukira kosinthana malo diso
• Kusuntha kwachangu, mwadzidzidzi, nthawi zina koyenda mwamphamvu kwa mikono, miyendo, nkhope, ndi ziwalo zina za thupi
• Pang'onopang'ono, mayendedwe osalamulirika
• Kuyenda kosakhazikika, kuphatikiza "prancing" ndikuyenda kwambiri

Kusuntha kosazolowereka kumatha kubweretsa kugwa.

Dementia yomwe imakula pang'onopang'ono, kuphatikizapo:

• Kusokonezeka kapena kusokonezeka
• Kutaya chiweruzo
• Kutha kukumbukira
• Umunthu umasintha
• Kusintha kwa mawu, monga kupumira pamene mukuyankhula

Zizindikiro zina zomwe zingagwirizane ndi matendawa ndi monga:

• Kuda nkhawa, kupsinjika, komanso kupsinjika
• Zovuta kumeza
• Kuwonongeka kwamalankhulidwe

Zizindikiro mwa ana:

• Kukhala okhwima
• Kusuntha pang'ono
• Kugwedezeka

Wothandizira zaumoyo amayeza thupi ndipo atha kufunsa za mbiri ya banja la wodwalayo komanso zomwe ali nazo. Kuyeza kwamanjenje kudzachitidwanso.

Mayesero ena omwe angawonetse zizindikiro za matenda a Huntington ndi awa:

• Kuyesedwa kwamaganizidwe
• Mutu wa CT kapena MRI
• Kuwunika kwa PET (isotope) kwaubongo

Kuyezetsa magazi kumapezeka kuti mudziwe ngati munthu ali ndi jini la matenda a Huntington.

Palibe mankhwala a HD. Palibe njira yodziwika yodziwira kuti matendawa asakulireko. Cholinga cha chithandizo ndikuchepetsa zizindikiritso ndikuthandizira munthuyo kugwira ntchito kwa nthawi yayitali.

Mankhwala amatha kuperekedwa, kutengera zizindikiro.

• Oletsa ma Dopamine atha kuthandiza kuchepetsa zizolowezi zosuntha ndi mayendedwe.
• Mankhwala monga amantadine ndi tetrabenazine amagwiritsidwa ntchito poyesa kuwongolera mayendedwe owonjezera.

Matenda okhumudwa komanso kudzipha ndizofala pakati pa anthu omwe ali ndi HD. Ndikofunikira kwa osamalira odwala kuti azitha kuwunika ngati ali ndi matendawa ndikupempha thandizo kuchipatala nthawi yomweyo.

Matendawa akamakula, munthuyo amafunika thandizo ndi kuyang'aniridwa, ndipo pamapeto pake angafunike chisamaliro cha maola 24.

Izi zitha kukupatsirani zambiri pa HD:

• Huntington's Disease Society of America - hdsa.org
• Buku Lofotokozera la NIH Genetics - ghr.nlm.nih.gov/condition/huntington-disease

HD imayambitsa kulumala komwe kumawonjezeka pakapita nthawi. Anthu omwe ali ndi HD nthawi zambiri amamwalira pasanathe zaka 15 mpaka 20. Choyambitsa imfa nthawi zambiri chimakhala matenda. Kudzipha kulinso kofala.

Ndikofunika kuzindikira kuti HD imakhudza anthu mosiyanasiyana. Chiwerengero cha kubwereza kwa CAG kumatha kudziwa kuopsa kwa zizindikilo. Anthu omwe amabwerezabwereza pang'ono amatha kukhala ndi mayendedwe abwinobwino m'moyo komanso kuchepa kwa matenda. Omwe amabwereza mobwerezabwereza atha kukhudzidwa kwambiri akadali achichepere.

Itanani omwe akukuthandizani ngati inu kapena wachibale wanu ali ndi matenda a HD.

Uphungu wamtunduwu umalangizidwa ngati pali mbiri yabanja ya HD. Akatswiri amalimbikitsanso upangiri wamabanja kwa mabanja omwe ali ndi mbiri yakubadwa ya matendawa omwe akuganiza zokhala ndi ana.

Huntington chorea

(Adasankhidwa) Caron NS, Wright GEB, Hayden MR. Matenda a Huntington. Mu: Adam MP, Ardinger HH, Pagon RA, et al, eds. Zowonjezera. Seattle, WA: Yunivesite ya Washington. www.ncbi.nlm.nih.gov/books/NBK1305. Idasinthidwa pa Julayi 5, 2018. Idapezeka pa Meyi 30, 2019.

Matenda a Jankovic J. Parkinson ndi zovuta zina zoyenda. Mu: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, olemba. Neurology ya Bradley mu Kuchita Zachipatala. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2016: chap 96.