Isifo seHuntington

Isifo i-Huntington (HD) yisifo sofuzo lapho amangqamuzana ezinzwa ezingxenyeni ezithile zobuchopho esonakala, noma ewohloka. Lesi sifo sidluliselwa ngemindeni.

I-HD ibangelwa ukukhubazeka kwezakhi zofuzo kwi-chromosome 4. Isici sibangela ukuthi ingxenye ethile ye-DNA yenzeke kaningi kunalokho obekufanele kwenzeke. Lokhu kukhubazeka kubizwa ngokuthi kuyimpinda ye-CAG. Imvamisa, le ngxenye ye-DNA iphindaphindwa ama-10 kuye kuma-28 times. Kodwa kubantu abane-HD, iyaphindwa izikhathi ezingama-36 kuye kwezingu-120.

Njengoba ufuzo ludluliselwa emindenini, inani lezimpinda livame ukuba likhulu. Ngokukhula kwenani lezimpinda, kukhulisa ithuba lomuntu lokuthuthukisa izimpawu esemncane. Ngakho-ke, njengoba lesi sifo sidluliselwa emindenini, izimpawu zikhula zisencane futhi zibe zincane.

Kunezinhlobo ezimbili ze-HD:

• Ukuqala kwabantu abadala yikhona okuvame kakhulu. Abantu abanaleli fomu bavame ukuba nezimpawu phakathi kweminyaka engama-30 noma engama-40.
• Ukuqala kwesikhathi kuthinta inani elincane labantu futhi kuqala ebuntwaneni noma ebusheni.

Uma omunye wabazali bakho ene-HD, unethuba elingama-50% lokuthola isakhi sofuzo. Uma uthola ufuzo kubazali bakho, ungaludlulisela ezinganeni zakho, nazo ezizothola ithuba elingama-50% lokuthola ufuzo. Uma ungatholi ufuzo kubazali bakho, awukwazi ukudlulisela zofuzo ezinganeni zakho.

Ukuziphatha okungavamile kungahle kwenzeke ngaphambi kokukhula kwezinkinga zokuhamba, futhi kungafaka:

• Ukuphazamiseka kokuziphatha
• Ukusangana
• Ukuthukuthela
• Ukuzithokozisa
• Ukuphumula noma ukuzulazula
• I-Paranoia
• Ingqondo

Ukunyakaza okungavamile nokungajwayelekile kufaka:

• Ukunyakaza kobuso, kufaka phakathi ama-grimace
• Inhloko iphenduka ukushintsha ukuma kweso
• Ukunyakaza okusheshayo, okungazelelwe, kwesinye isikhathi kwendle kwezingalo, imilenze, ubuso, nezinye izitho zomzimba
• Ukuhamba kancane, okungalawulwa
• Ukuhamba okungazinzile, kufaka phakathi i- "prancing" nokuhamba okubanzi

Ukunyakaza okungavamile kungaholela ekuweni.

Ukuwohloka komqondo okuya ngokuya kuba kubi, kufaka phakathi:

• Ukudideka noma ukudideka
• Ukulahlekelwa ukwahlulela
• Ukulahleka kwenkumbulo
• Ubuntu buyashintsha
• Ukushintsha kwenkulumo, njengokuma kancane ngenkathi ukhuluma

Izimpawu ezingeziwe ezingahambisana nalesi sifo zifaka:

• Ukukhathazeka, ukucindezeleka, kanye nokungezwani
• Kunzima ukugwinya
• Ukukhubazeka kwenkulumo

Izimpawu ezinganeni:

• Ukuqina
• Ukuhamba kancane
• Ukuthuthumela

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa ngokomzimba futhi angabuza ngomlando nomndeni wesiguli nezimpawu zakhe. Kuzokwenziwa ukuhlolwa kwesistimu yezinzwa.

Ezinye izivivinyo ezingakhombisa izimpawu zesifo sikaHuntington zifaka:

• Ukuhlolwa kwengqondo
• Iskena se-Head CT noma se-MRI
• Ukuskena kwe-PET (isotope) kobuchopho

Ukuhlolwa kofuzo kuyatholakala ukunquma ukuthi ngabe umuntu uphethe ufuzo lwesifo sikaHuntington.

Alikho ikhambi le-HD. Ayikho indlela eyaziwayo yokuvimba lesi sifo ukuba siqhubeke sibi. Inhloso yokwelashwa ukunciphisa izimpawu nokusiza umuntu ukuthi asebenze isikhathi eside ngangokunokwenzeka.

Imithi ingabhalwa, kuye ngezimpawu.

• Ama-block blocker we-Dopamine angasiza ekunciphiseni isimilo nokuhamba okungavamile.
• Izidakamizwa ezinjenge-amantadine ne-tetrabenazine zisetshenziselwa ukuzama ukulawula ukunyakaza okwengeziwe.

Ukudangala nokuzibulala kuvamile kubantu abane-HD. Kubalulekile ukuthi abanakekeli babheke izimpawu bese befuna usizo lwezempilo lomuntu ngokushesha.

Njengoba lesi sifo siqhubeka, umuntu uzodinga usizo nokugadwa, futhi ekugcineni angadinga ukunakekelwa kwamahora angama-24.

Lezi zinsizakusebenza zinganikeza imininingwane eminingi nge-HD:

• IHuntington's Disease Society of America - hdsa.org
• Isethenjwa Sasekhaya se-NIH - ghr.nlm.nih.gov/condition/huntington-disease

I-HD ibangela ukukhubazeka okuba kubi ngokuhamba kwesikhathi. Abantu abane-HD ngokuvamile bafa kungakapheli iminyaka engu-15 kuya kwengu-20. Imbangela yokufa kaningi ukutheleleka. Ukuzibulala nakho kuvamile.

Kubalulekile ukuqaphela ukuthi i-HD ibathinta ngokwehlukile abantu. Inani lokuphindwa kwe-CAG lingahle licacise ukuqina kwezimpawu. Abantu abaphindayo abambalwa bangaba nokunyakaza okuncane okungajwayelekile kamuva empilweni nokuqhubeka kwesifo okuhamba kancane. Labo abanenani elikhulu lokuphindaphinda bangathinteka kanzima besebancane.

Shayela umhlinzeki wakho uma wena noma ilungu lomndeni liqala izimpawu ze-HD.

Ukwelulekwa ngofuzo kuyelulekwa uma kunomlando womndeni we-HD. Ochwepheshe bancoma nokwelulekwa ngofuzo kwemibhangqwana enomlando womndeni walesi sifo ocabanga ukuba nezingane.

IHuntington chorea

UCaron NS, uWright GEB, uHayden MR. Isifo seHuntington. Ku: Adam MP, Ardinger HH, Pagon RA, et al, ama-eds. Ukubuyekezwa kweGeneReviews. Seattle, WA: Inyuvesi yaseWashington. www.ncbi.nlm.nih.gov/books/NBK1305. Kubuyekezwe uJulayi 5, 2018. Kufinyelelwe ngoMeyi 30, 2019.

Isifo sikaJankovic J. Parkinson nezinye izinkinga zokuhamba. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ama-eds. I-Neurology kaBradley ekwenziweni kwemitholampilo. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 96.