Ingabe nawe unenkinga eyenza imilenze yakho iqine futhi ibe buthakathaka? Ake sixoxe nge-Hereditary Spastic Paraplegia

Ingabe ngezinye izikhathi uzizwa sengathi imilenze yakho iyantengantenga kancane uma uhamba, sengathi awunawo amandla okuyilawula? Ingabe uyakhubeka phezu kwento encane bese uyawa, noma unenkinga yokuphakamisa imilenze yakho lapho ukhuphuka izitebhisi? Lokhu kungase kungabi nje ezinye izinto. Namuhla sizokhuluma ngesimo esithinta imilenze, esiyinkimbinkimbi kancane, kodwa esibaluleke kakhulu ukusazi. Leso yisimo esibizwa ngokuthi ``Heroditary Spastic Paraplegia``.

Iyini le nkinga yokukhubazeka kwe-spastic ezuzwe njengefa?

Kalula nje, leli yiqembu lezimo ezizuzwa njengefa . "Ifa" lisho ukuthi ungalithola lesi simo ngezakhi zofuzo ezivela kumama wakho, kubaba, noma kwamanye amalungu omndeni. "I-Spastic paraplegia" ibhekisela ekuqineni (`(spasticity)`) kanye nobuthakathaka obuhamba kancane kancane bemisipha emilenzeni yakho . Lezi zimpawu aziveli ngokuzumayo, kodwa ziyanda kancane kancane ngokuhamba kwesikhathi .

Ekuqaleni, ungase uzizwe ungakhululekile lapho uhamba. Ungase ukhubeke ngengozi phezu kwento ethile noma ukhubeke phezu kwetshe elincane emgwaqweni. Lokhu kungenxa yokuthi awukwazi ukuphakamisa umlenze wakho kahle. Ngokuhamba kwesikhathi, lesi simo singaba sibi kakhulu futhi ukuhamba kungaba yingozi. Abanye abantu kungadingeka basebenzise induku, i-walker, noma ngisho nesihlalo sabakhubazekile ukuze babasize bahambe ngemva kweminyaka embalwa.

Ungase uzwe odokotela ngezinye izikhathi besebenzisa amanye amagama kulesi simo:

• `(I-paraparesis yomndeni ye-spastic)`
• `(I-paraparesis ye-spastic eguquliwe ngokwefa)`
• `(Isifo sikaStrümpell-Lorrain)`

Kungakhathaliseki ukuthi uyiqamba liphi igama, isho isimo esifanayo sempilo.

Ingabe kukhona izinhlobo ze-`(Heroditary Spastic Paraplegia)`?

Yebo, kunezinhlobo ezingaphezu kuka-80 zalesi sifo. Uhlobo ngalunye lunikezwa inombolo, njenge-`(SPG1)`, `(SPG2)`, ngokulandelana okwatholakala ngakho. Kodwa odokotela bahlukanisa lezi zibe amaqembu amabili amakhulu:

1. Uhlobo Olulula (noma Oluhlanzekile): Cishe amaphesenti angama-90 abantu abanalesi sifo banalolu hlobo olulula . Izimpawu eziyinhloko ukuqina kwemisipha (`(ukuqaqamba)`) kanye nobuthakathaka emilenzeni esixoxe ngakho ekuqaleni.

2. Uhlobo oluyinkimbinkimbi: Amaphesenti ayi-10 asele analolu hlobo oluyinkimbinkimbi . Ngaphezu kokuqina kwemilenze nobuthakathaka, ungase ubhekane nezinye izimpawu eziningi zezinzwa ezihlobene nobuchopho bakho, umgogodla, kanye nesistimu yezinzwa .

Sivame kangakanani lesi simo?

Kunzima ukusho ngqo ukuthi bangaki abantu abane-"Hereditary Spastic Paraplegia". Lokhu kungenxa yokuthi izimpawu zifana nezezinye izifo , futhi ngokuvamile azitholakali kahle . Abacwaningi balinganisela ukuthi phakathi komuntu oyedwa (`1`) nohlanu (`5`) kubantu abayikhulu lezinkulungwane emhlabeni wonke bangaba nalesi sifo.

Ziyini izimpawu ze-`(Hereditary Spastic Paraplegia)`?

Izimpawu ezimbili eziyinhloko zalesi sifo zithinta imisipha emilenzeni yakho:

• Ukuqina kwemisipha
• Ubuthakathaka

Kodwa-ke, kuye ngohlobo lwesifo, kungase kuvele nezinye izimpawu.

Izici ezengeziwe zohlobo olulula:

• Ukuba ndikindiki noma ukulahlekelwa umuzwa emilenzeni, ikakhulukazi ezithendeni zezinyawo .
• Ubunzima bokulawula umchamo .
• Ukuzizwa unesidingo sokuchama noma sokuzikhulula ngokuzumayo, ngisho noma isinyi noma amathumbu engagcwele.

Ezinye izici zohlobo oluyinkimbinkimbi:

Kulolu hlobo, ububanzi bezimpawu bubanzi kakhulu. Isibonelo:

• Ukwehla kokusebenza kwengqondo njengekhono lokucabanga kanye nenkumbulo (dementia) .
• Ubunzima bokugcina ibhalansi kanye nokungakwazi ukuhlanganisa imisebenzi (i-ataxia).
• Izinkinga zamehlo ezifana nokungaboni kahle, i-cataracts, i-optic atrophy, noma i-retinopathy.
• Ukulahlekelwa ukuzwa (`(Ukulahlekelwa ukuzwa)`) .
• Ubunzima bokufunda, ukukhubazeka kwengqondo noma ukubambezeleka kokukhula.
• Ukuncipha kancane kancane kwemisipha (`(atrophy)`) .
• Ukulimala kwemizwa ezingalweni nasemilenzeni (i-peripheral neuropathy) .
• Ubunzima bokuphefumula (ukuphelelwa umoya), ubunzima bokukhuluma (i-aphasia), noma ubunzima bokugwinya (i-dysphagia) .
• Izimpawu zesifo sokuwa (`(Ukuquleka)`) .
• Abanye abantu bangase babe nesikhumba esomile nesijiyile esifana nezikali zezinhlanzi (`(ichthyosis vulgaris)`) .

Cabanga ukuthi kunzima kangakanani ukuba nezimpawu ezimbili noma ngaphezulu. Ngakho-ke ukuphila nezimpawu eziningi kangaka kuyinselele enkulu.

Yini ebangela `(I-Hereditary Spastic Paraplegia)`?

Isizathu esiyinhloko salokhu ushintsho kuma-gene, okubizwa ngokuthi uhlobo lwezakhi zofuzo . Yonke imisebenzi yomzimba wethu ilawulwa yimiyalelo etholwe kuma-gene. Uma la ma-gene eshintsha, imiyalelo etholwe ama-protein ayilungile . Khona-ke lawo ma-protein awakwazi ukwenza umsebenzi wawo kahle. Lokhu kuthinta ngqo ukusebenza kwezinzwa emgogodleni wakho. Ukuguqulwa kwezakhi zofuzo okuhlukahlukene kungabangela lesi simo.

Lesi simo, esibizwa ngokuthi "i-Hereditary Spastic Paraplegia", sizuzwe njengefa . Lokhu kusho ukuthi kumelwe ukuthi uthole okungenani ikhophi eyodwa yesakhi sofuzo kubazali bakho. Kunezindlela eziningana lokhu okungenzeka ngazo:

• `I-Autosomal dominant`: Lokhu kwenzeka lapho oyedwa kuphela kubazali bakho ezuza lesi sici njengefa.Lesi sifo senzeka lapho kukhona i-gene ebangela lesi sifo.
• `I-Autosomal recessive`: Kulesi simo, lesi sifo sivela kuphela uma uzuza ifa lofuzo kumama wakho nakubaba wakho. Uma ulizuza kumzali oyedwa kuphela, ungase ube ngumthwali walesi sifo, kodwa ungakhombisi izimpawu.
• `X-linked`: Kulokhu, umama (umzali wesifazane) udlulisela lesi sakhi sofuzo kumntwana wakhe wesilisa nge-chromosome yobulili.
• Ifa le-Mitochondrial: Kulokhu, umama udlulisela lesi simo enganeni yakhe (kungakhathaliseki ubulili) ngesakhi sofuzo se-mitochondrial .

Nakuba kungavamile, ngezinye izikhathi lezi zinguquko zofuzo zingavela ngokungahleliwe, okusho ukuthi zingavela kumuntu omusha ngaphandle komlando womndeni (ongahleliwe) .

Ubani osengozini enkulu yalesi sifo?

Noma ubani angaba nalesi simo, esibizwa ngokuthi "i-Hereditary Spastic Paraplegia." Kodwa-ke, uma omunye noma bobabili abazali bakho benokuguqulwa kwezakhi zofuzo okuhlobene nalesi sifo, usengozini enkulu yokuthola lesi simo .

Yiziphi izinkinga ezingaba khona ngenxa yalesi sifo?

I-Hereditary Spastic Paraplegia ingabangela eminye imiphumela emibi eminingana, okuhlanganisa:

• Ubuhlungu emhlane nasemadolweni.
• Izinyawo zihlala zizizwa zibanda.
• Ukuzizwa ukhathele ngaso sonke isikhathi (`(Ukukhathala)`) .
• Izinwele ziyajika futhi ziyafinyezwa.

Ukuphila nobunzima bokuhamba, lapho izinto ezazilula manje sezinzima, ngezinye izikhathi zize zibe yingozi, kungaba nomthelela omkhulu empilweni yakho yengqondo . Lokhu kungaholela ezimweni ezifana nokucindezeleka nokucindezeleka . Uma uzizwa sengathi unezinsuku ezimbi kakhulu kunezinsuku ezinhle, ungabi namahloni okukhuluma nodokotela wakho ngakho . Bangakudlulisela kumeluleki wezempilo yengqondo ongakusiza ukuthi uphathe indlela lesi simo esithinta ngayo imizwa yakho.

Lesi sifo `(Hereditary Spastic Paraplegia)` sitholakala kanjani?

Udokotela uzokwenza ukuhlolwa ngokomzimba, ukuhlolwa kwezinzwa, kanye nezinye izivivinyo eziningana ezikhethekile ukuze ahlole lesi simo. Phakathi nalezi zivivinyo, udokotela uzobheka ngokuningiliziwe izimpawu zakho kanye nomlando wezokwelapha wakho kanye nomndeni wakho. Uzophinde abheke:

• Ukuzwela ukuthinta.
• Ibhalansi yomzimba.
• Ukuhlanganiswa kwezenzo.
• Ukusebenza kwengqondo.
• Umsebenzi wemoto (ikhono lokuhambahamba).
• Ukuzindla.

Ngemva kwalezi zinto, uma udokotela esola ukuthi `(Hereditary Spastic Paraplegia)`, angase asikisele ezinye izivivinyo ezifana nalezi:

• I-Electromyography (EMG): Lokhu kuhilela ukufaka izinaliti ezincane emisipheni yakho nokurekhoda ukuthi imizwa yakho isabela kanjani ezimpawini ezincane zikagesi. Lokhu kungakunikeza umbono omuhle wokuthi imisipha yakho nemizwa yakho isebenza kanjani .
• Ukuhlolwa kofuzo : Kuthathwa isampula yegazi noma amathe akho ukuze kuhlolwe ukuguquka kofuzo okubangela lesi sifo .
• Ukuskena kwe-Magnetic Resonance Imaging (MRI): Lokhu kusebenzisa amagagasi kazibuthe, amagagasi omsakazo, kanye nekhompyutha ukwenza izithombe ezinemininingwane zezicubu zobuchopho bakho kanye nomgogodla . Kungabonisa ukukhubazeka ebuchosheni kwabanye abantu abane-HSP eyinkimbinkimbi.
• Ukumpompa komgogodla (ukubhoboza i-Lumbar) : Kulokhu, kufakwa inaliti encane emhlane wakho ongezansi bese kususwa inani elincane loketshezi lwe-cerebrospinal (CSF) endaweni ezungeze ubuchopho bakho kanye nomgogodla ukuze kuhlolwe.

Ngezinye izikhathi kungathatha isikhathi ukuxilonga lesi sifo ngendlela efanele , ngoba izimpawu ze-`(Hereditary Spastic Paraplegia)` zingafana kakhulu nezimpawu zezinye izifo ezifana nalezi:

• Ukukhubazeka kobuchopho (`(Ukukhubazeka kobuchopho)`)
• I-Multiple sclerosis (`(I-Multiple sclerosis)`)
• `(Isifo sikaPelizaeus-Merzbacher)`
• I-stenosis yomgogodla (ukuncipha komsele womgogodla)

Iphathwa kanjani i-`(Hereditary Spastic Paraplegia)`?

Ngeshwa, ayikho ikhambi le- Hereditary Spastic Paraplegia. Kodwa-ke, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu futhi zenze impilo ibe lula kancane. Lokhu kufaka phakathi:

• Imithi: Imithi enciphisa ukuqina kwemisipha (imithi yokuphumula imisipha), imijovo ye-botulinum toxin, kanye ne-baclofen.
• Ukwelashwa ngokomzimba : Ukuzivocavoca ukuqinisa imisipha, ukwandisa ukuguquguquka, nokuthuthukisa ibhalansi.
• Ukwelashwa Komsebenzi : Ukwethula ukuqeqeshwa kanye nemishini ukuze kukusize wenze imisebenzi yansuku zonke kalula.
• Izisekelo zezicathulo ezikhethekile (ama-Orthotics) : Ukwenza ukuhamba kube lula nokugcina unyawo lusesimweni esifanele.
• Amadivayisi asiza ekuhambeni: udondolo, izinduku zokusibekela, ama-splint, noma isihlalo sabakhubazekile.

Kuye ngohlobo lwezimpawu zakho, udokotela wakho angase asikisele ezinye izindlela zokwelapha.

Liyoba njani ikusasa kumuntu one-`(Heroditary Spastic Paraplegia)`?

Lokhu kuncike kakhulu ebunzimeni bezimpawu . Njengoba sishilo ngaphambili, lesi sifo siyathuthuka. Ngokuvamile senzeka kancane kakhulu, phakathi neminyaka ethile . Lokhu kungaholela ekulahlekelweni kancane kancane kwamandla okuhamba ngokuzimela, kanye nesidingo sokusiza ukuhamba.

Uma unezinye izimpawu zezinzwa, zingathinta ikhwalithi yempilo yakho . Abantu abanalezi zimo bangase badinge usizo nokusekelwa kukho konke ukuphila kwabo.

Ingabe i-Hereditary Spastic Paraplegia inciphisa isikhathi sokuphila?

Ngokuvamile, lesi sifo `(Heroditary Spastic Paraplegia)` asithinti isikhathi sakho sokuphila . Kodwa-ke, kwezinye izinhlobo ezithile neziyinkimbinkimbi zalesi sifo, isimo singahluka kancane. Umuntu ongcono kakhulu omaziyo ngalokhu udokotela wakho. Angachaza ukuthi yini ongayilindela ngokusekelwe esimweni sakho.

Ingabe ikhona indlela yokuvimbela lesi sifo?

Ayikho indlela eyaziwayo yokuvimbela i-Hereditary Spastic Paraplegia. Njengoba kuyisimo sofuzo, uma ufuna ukwazi ngengozi yakho yokuthola lesi sifo kanye nezinye izimo zofuzo, ungakhuluma nomeluleki wezakhi zofuzo bese uthola ulwazi mayelana nokuhlolwa kwezakhi zofuzo .

Kufanele ngimbone nini udokotela?

Uma usuvele unalezi zimpawu, uma zibonakala ziba zimbi kakhulu ngokuhamba kwesikhathi, noma uma uba nezimpawu ezintsha, qiniseka ukuthi wazisa udokotela wakho. Angalungisa uhlelo lwakho lokwelashwa njengoba kudingeka futhi akusize uphathe lesi simo esibi kakhulu.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma uthola ukuthi wena noma othile omaziyo une-`(Heroditary Spastic Paraplegia)`, ungase ube nemibuzo eminingi engqondweni yakho. Isibonelo:

• Uhlobo luni lwe-spastic paraplegia enginalo?
• Hlobo luni lokwelashwa olungincomayo?
• Ingabe ikhona imiphumela emibi kulezi zindlela zokwelapha?
• Ingabe kuzodingeka ngisebenzise induku, i-walker, noma isihlalo sabakhubazekile?
• Yimiphi imisebenzi engingayenza ngokuphepha?

Kuvamile ukuzizwa ukhungathekile uma ufunda ngesimo sofuzo esinjengalesi. Imibuzo efana nokuthi "Ngikuthole kanjani lokhu?", "Ingabe ukhona emndenini wami onakho?", "Ingabe izimpawu zami zizobe zimbi kakhulu?" ingase ifike engqondweni. Kodwa ungakhathazeki. Udokotela wakho uzoba nawe kulolu hambo futhi aphendule yonke imibuzo yakho.

Lezi zimpawu zingaqala kunoma yimuphi ubudala futhi zingase zimbi kancane kancane ngokuhamba kwesikhathi. Ngezinye izikhathi ngisho nemisebenzi elula yansuku zonke, njengokuhamba nesilwane sakho noma ukugibela ibhayisikili, ingaba yinselele. Kwezinye izimo, ukwenza lezi zinto kungaba yingozi. Kungadingeka ufunde izindlela ezintsha zokwenza izinto ezisebenzela umzimba wakho, noma uthathe isikhathi esengeziwe sokwenza izinto ezingasiza ekuvimbeleni izingozi. Udokotela wakho uzokunikeza iseluleko esenzelwe wena ukuze uhlale uphephile futhi uphilile.

## Izinto Ezibalulekile Okufanele Uzikhumbule (Umyalezo Ofanele Uwuthathe Uhambe Nawe Ekhaya)

Kulungile, ngakho-ke ngithemba ukuthi usunombono ongcono nge-`(Heroditary Spastic Paraplegia)` esikhulume ngayo.

Into ebaluleke kakhulu ukufuna iseluleko sezokwelapha uma usola ukuthi unalezi zimpawu. Uma zitholakala kusenesikhathi, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu futhi zikusize uphile impilo evamile ngangokunokwenzeka.

• Khumbula, lokhu akulona iphutha lakho . Lesi yisimo sofuzo.
• Nakuba ukwelashwa kungeke kuselaphe ngokuphelele lesi sifo, izimpawu zingalawulwa .
• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi kuyizindlela ezimbili ezibaluleke kakhulu zokwelapha abantu abaphila nalesi sifo.
• Nakekela impilo yakho yengqondo futhi . Unganqikazi ukucela usizo uma uludinga.
• Awuwedwa. Kukhona odokotela, abelaphi, kanye nabathandekayo bakho kulolu hambo nawe ukuzokusiza.

Sithemba ukuthi lolu lwazi luwusizo kuwe. Hlala uphilile!

` I-Hereditary Spastic Paraplegia, Ukuqina kwemilenze, Ubuthakathaka bemilenze, Izifo ze-Neurological, Izifo zofuzo, Ubunzima bokuhamba