Ingabe imisipha yakho yobuso neyamahlombe ibuthakathaka? Ake sixoxe nge-FSHD (Facioscapulohumeral Muscular Dystrophy)!

Ingabe ngezinye izikhathi uzizwa sengathi imisipha ebusweni bakho, emahlombe, noma ezingalweni zakho ibuthakathaka kancane? Mhlawumbe unenkinga yokumomotheka noma ukushaya ikhwela. Uma unalezi zimpawu, kungenzeka ukuthi kungenxa yesimo sobuthakathaka bemisipha esibizwa ngokuthi i-FSHD. Ake sixoxe ngalokhu ngokuningiliziwe, kalula.

Kuyini i-FSHD?

Kalula nje, i-FSHD yisifo esibangela ukuba imisipha ibe buthaka kancane kancane futhi inciphe. Ingeqembu elikhulu lezifo ezibizwa ngokuthi ``Muscular Dystrophy (MD)``. Ivame ukuqala emisipheni yobuso bakho, emahlombe, nasezingalweni ezingaphezulu. Kodwa ngokuhamba kwesikhathi, ingathinta noma yimuphi umsipha emzimbeni wakho. Yisifo esizuzwe njengefa. Nakuba abanye abantu bangase baqale ukuzwa izimpawu besebancane, izimpawu zivame ukuqala ukubonakala ebudaleni, ngokuvamile phakathi kweminyaka engu-15, 20, no-30. Ungakhathazeki, akukho ukwelashwa kwalokhu okwamanje. Kodwa-ke, kunezindlela zokwelapha ezingakusiza ukuphatha izimpawu zakho futhi uphile impilo evamile.

Ingabe zikhona izinhlobo ze-FSHD?

Kunezinhlobo ezimbili eziyinhloko ze-FSHD. Izimpawu ziyafana kuzo zombili, kodwa imbangela yesifo ihlukile kancane.

Uhlobo lwe-`FSHD1`

Yilokhu okwenzekayo ezimweni ezingamaphesenti angama-95. Lokhu kwenzeka lapho isakhi sofuzo esivame ukungasebenzi emangqamuzaneni emizimba yethu siqala ukusebenza ngokuzumayo. Amaprotheni akhiqizwa yilesi sakhi sofuzo esisanda kusebenza abhubhisa amangqamuzana emisipha. Cabanga nje, lokhu kufana nokuvusa umuntu olele bese umnikeza umsebenzi bese emenza abe nexhala.

Uhlobo lwe-`FSHD2`

Amaphesenti amahlanu asele (5%) angowalolu hlobo. Njenge-'FSHD1', nalapha futhi, amaprotheni avela ku-activated gene alimaza imisipha. Kodwa-ke, i-'FSHD2' ibangelwa ukuguquka noma ushintsho ku-gene ehlukile. Lokhu kuguqulwa kwe-gene kushukumisa i-gene okufanele ingasebenzi. Ukuze kube sobala, kufana ne-'switch' elawula ukuqhekeka kwe-gene.

Ingabe lesi sifo esibizwa ngokuthi i-FSHD sivamile?

Abacwaningi bakholelwa ukuthi lesi sifo sithinta abantu abane (4) nabayishumi (10) kwabayikhulu lezinkulungwane . Lokho kusho ukuthi singavamile, kodwa kungenzeka ukuthi laba ziguli bakhona naseSri Lanka.

Ziyini izimpawu ze-FSHD?

Igama elithi FSHD lisuselwa egameni lesiLatini kanye nelezokwelapha. Okusho ukuthi, ngokwezingxenye zomzimba lapho lezi zimpawu ziqala khona ukubonakala. Ake sibone ukuthi ziyini.

• `Ubuso`: Lokhu kusho ubuso . Abantu abane-FSHD banenkinga yokufutha izindebe zabo nokuphuza ngotshani. Ngezinye izikhathi balala amehlo abo evulekile kancane. Lokhu kungenxa yokuthi imisipha ebagcina bevalekile ayikwazi ukuwavala. Abanye abantu bangase bazizwe sengathi olunye uhlangothi lobuso babo alusebenzi kahle ngisho nalapho bemomotheka.
• `Scapulo`: Lokhu kusho i-blade yamahlombe.I-FSHD ibangela ukuba imisipha emahlombe akho ibe buthaka. Uma ushukumisa amahlombe akho, amahlombe akho avele ngemuva futhi akhuphukele entanyeni yakho, njengamaphiko . Odokotela bakubiza lokhu ngokuthi "i-scapular winging." Lokhu kungenza kube nzima ukuphakamisa izingalo zakho noma ukuphakamisa izinto ezisindayo.
• I-Humeral: Lokhu kubhekisela engalweni engenhla. Okusho ukuthi, ithambo eliqala ehlombe liye endololwaneni. Uma une-FSHD, imisipha engalweni yakho yangaphambili (i-biceps) kanye nengalo yangemuva (i-triceps) iba buthakathaka ngendlela engavamile. Lokhu kwenza kube nzima ukwenza izinto ezifana nokuphakamisa izingalo zakho ngaphezu kwamahlombe akho, ukukama izinwele zakho, noma ukucosha okuthile eshalofini.

Ku-FSHD , imisipha ehlukene ingathinteka ngezikhathi ezahlukene. Isibonelo, ingalo yakho yesokudla ingase ibe buthakathaka, kodwa ingalo yakho yesobunxele ingase ingabi buthakathaka. Noma zombili izingalo zingase zibe buthakathaka, kodwa enye ingase ibe buthakathaka kakhulu kunenye.

Ezinye izimpawu ezivamile:

• Isisu esiphumayo ngenxa yobuthakathaka bemisipha yesisu esingezansi.
• Ithambo lesifuba licwile ngaphakathi.
• Izingalo ezibuthakathaka noma ezigobile.
• Ukukhathala okungapheli. Lokho kusho ukuzizwa ukhathele ngaso sonke isikhathi.
• Ngezinye izikhathi kuba nobuhlungu obukhulu . Lobuhlungu bungenzeka emisipheni nasemalungeni.

Yimiphi imiphumela emibi engaba khona ye-FSHD?

Lesi sifo singaba neminye imiphumela emibi. Isibonelo, ukubona, ukuzwa, nokuhamba kungathinteka . Cishe amaphesenti angamashumi amabili (20%) abantu abane-FSHD kuzodingeka basebenzise isihlalo sabakhubazekile ngemva kweminyaka engu-50.

Ezinye izimo ezithile:

• Isifo sama-Coats: Imithambo yegazi engajwayelekile ku-retina, okuyingqimba yangaphakathi yeso. Lokhu kungathinta umbono.
• I-Exposure keratitis: Ukoma kwengxenye engaphambili yeso esobala (i-cornea) ngenxa yokungakwazi ukuvala iso kahle. Lokhu kungabangela ukubomvu nobuhlungu emehlweni.
• Ubunzima bokuzwa imisindo evama kakhulu (`Ukulahlekelwa ukuzwa okuvama kakhulu`). Lokhu kusho ukuthi imisindo evama kakhulu ayizwakali kahle.
• `Ukuhamba kweTrendelenburg`: Ubuthakathaka emisipheni yethanga bubangela ukuhamba okunyakazayo ohlangothini oluthintekile.
• `Ukwehla kwezinyawo`: Ukungakwazi ukugoba unyawo phezulu. Lokhu kungabangela ukuthi unyawo luhudule phansi lapho uhamba, okubangela ukuthi ukhubeke.
• I-Lordosis: Ukugoba phambili komhlane ongezansi.
• I-Scoliosis: Ukugoba komgogodla eceleni.

Yiziphi izimbangela ze-FSHD?

Njengoba sesixoxile ngaphambili, kunezimbangela ezimbili eziyinhloko ze-FSHD. Zombili zihlobene nezakhi zofuzo.

I-`FSHD1` yakhiwe kanje:I-gene `DUX4` emaseli emizimba yethu ivame ukungasebenzi. Okusho ukuthi, ayisebenzi. Kodwa uma le gene isebenza, amaprotheni ewakhiqizayo alimaza imisipha. Ngokuhamba kwesikhathi, imisipha ethintekile iba buthaka futhi inciphe (atrophy).

I-`FSHD2` ibangelwa ukuguquka kwezakhi zofuzo ze-`SMCHD1` emzimbeni wethu. Le zakhi zofuzo ze-`SMCHD1` ngokuvamile zisiza ukugcina izakhi zofuzo ze-`DUX4` zingasebenzi. Kufana nesango elivalwayo. Kodwa uma izakhi zofuzo ze-`SMCHD1` zishintsha, azisebenzi kahle. Khona-ke, njengaku-`FSHD1`, amaprotheni akhiqizwa izakhi zofuzo ze-`DUX4` ezisebenzayo alimaza imisipha.

I-FSHD izuzwa kanjani njengefa?

Lesi sifo sizuzwa kakhulu ngendlela elawulwa yi-autosomal. Lokhu kusho ukuthi noma umzali oyedwa enekhophi eyodwa ye-gene engavamile, izingane zakhe zisengayithola leso sifo. Umuntu one-FSHD unethuba elingamaphesenti angu-50 (50%) lokudlulisela i-gene engavamile ezinganeni zakhe. Lokhu kusho ukuthi uma enezingane ezimbili, oyedwa wabo unethuba lokuthola lesi sifo.

Kodwa-ke, cishe amaphesenti angama-30 (30%) abantu abane-FSHD1 abanawo umlando womndeni walesi sifo. Abacwaningi bakholelwa ukuthi lokhu kungenzeka ukuthi kungenxa yokuguquka okusha okwenzeka ngemva kokukhulelwa. Lokhu kungase futhi kube ngenxa yesimo esibizwa ngokuthi i-mosaicism. I-Mosaicism yilapho ukwakheka kwezakhi zofuzo zamaseli kumuntu ofanayo kuhlukile. Kalula nje, amanye amangqamuzana emzimbeni anezakhi zofuzo eziyinkinga, kanti amanye awanazo.

Yiziphi izici eziyingozi zokuthuthukisa i-FSHD?

Ingozi enkulu yokuthola lesi sifo umlando womndeni. Lokhu kusho ukuthi uma umama wakho, ubaba, noma izingane zakini zinalesi sifo, kungenzeka kakhulu ukuthi nawe ube naso.

I-FSHD ihlolwa kanjani?

Udokotela uzoqala ngokukuhlolela umzimba ngokuphelele. Bese bezokubuza ukuthi kukhona yini emndenini wakho oke waba nalezi zimpawu noma i-FSHD.

Ngaphezu kwalokho, ungenza futhi izivivinyo ezifana nalezi:

• Ukuhlolwa kwegazi: Lokhu kubheka kakhulu amazinga ama-enzyme abizwa ngokuthi `(serum creatine kinase)` kanye `(serum aldolase)`. Uma la mazinga ama-enzyme ephakanyisiwe, kungaba uphawu lokuthi kunenkinga ngemisipha.
• Ukuhlolwa kwe-neurological: Lokhu kuhlolwa kwenziwa ukuze kunqunywe ezinye izimo zesimiso sezinzwa. Kuhlola izinto ezifana nokusabela kwakho kanye nokuxhumana. Kubheka futhi amaphethini obuthakathaka bemisipha nokuthi imisipha yakho iyafinyela noma iyaqina (i-electromyography).
• Ukuhlolwa kwemisipha: Kulolu vivinyo, kuthathwa isampula encane yezicubu zemisipha bese ihlolwa ngaphansi kwe-microscope. Lokhu kungabonisa umonakalo kumaseli emisipha.
• Ukuhlolwa kofuzo:Lolu ukuphela kokuhlolwa okungaqinisekisa ngokunembile ukuba khona kwe-FSHD kanye nohlobo lwayo. Kungabona ukuthi ngabe kukhona yini inkinga nge-gene ye-`DUX4`.

Yiziphi izindlela zokwelapha i-FSHD?

Njengoba sesishilo ngaphambili, alikho ikhambi le-FSHD. Kodwa-ke, kunezindlela ezimbalwa odokotela abazincomayo zokusiza ekuphatheni izimpawu nokwenza impilo ibe lula:

• Ukwelashwa ngokomzimba: Lokhu kuhilela ukuzivocavoca kanye nokwelashwa ukuze kugcinwe imisipha iqinile kanye namalunga ehamba kahle.
• Amadivayisi e-Orthotic okusekela imisipha ebuthakathaka: Isibonelo, ama-corsets emisipha yesisu ebuthakathaka, izisekelo zomhlane, kanye nama-braces okunciphisa ubuhlungu behlombe nengalo. Futhi, ama-orthotics ezicathulo zakho ukwenza ukuhamba kube lula nokunciphisa ukuwa.
• Ukufakwa kwe-scapular ngokuhlinzwa kuyinqubo ethuthukisa ububanzi bokunyakaza kwehlombe. Lokhu kuqinisa i-blade yehlombe esifubeni, okwenza kube lula ukuphakamisa ingalo.

Ingakanani iminyaka yokuphila komuntu one-FSHD?

Lona umbuzo abantu abaningi abawubuzayo. Ezimweni eziningi, abantu abane-FSHD bangaphila isikhathi sokuphila esijwayelekile. Okusho ukuthi, lesi sifo asifinyezi isikhathi sokuphila. Ungakhathazeki ngakho.

Ngizinakekela kanjani?

I-FSHD yisifo esishintsha impilo esingenalo ikhambi okwamanje. Kodwa nansi eminye imibono engakusiza ukuthi uphile nalesi simo:

• Xhumana nabanye abane-FSHD. Lesi yisimo esingavamile, ngakho abantu abaningi abazi ngaso. Ungase uzizwe ungathandi ukukhuluma ngesimo sakho, futhi ungase uzizwe unesizungu futhi unesizungu. Ukukhuluma nabanye ababhekene nesimo esifanayo nawe kungaba usizo olukhulu. Kungase kube namaqembu okusekela iziguli ezinjengalesi eSri Lanka.
• Bonana nodokotela wezokwelapha osebenza ngokuhlinzwa. I-FSHD ikhawulela izinto ongazenza wedwa. Ukulahlekelwa ukuzimela kwakho kungaba yinto ekhungathekisayo futhi eyesabekayo. Ukwelashwa okusebenza ngokuhlinzwa kungakusiza ukuthi ujwayele lokhu okuvamile okusha futhi kukusize wenze imisebenzi yansuku zonke kalula.
• Yenza ukuzivocavoca okulula "kwe-aerobic". Ukuzivocavoca okufana nokubhukuda nokuhamba kukusiza ukuthi ushukume. Ngaphezu kwalokho, ukuzivocavoca kusiza ukunciphisa ukucindezeleka. Kodwa-ke, qiniseka ukuthi ukhuluma nodokotela wakho ngaphambi kokuqala uhlelo lokuzivocavoca. Ngoba eminye imithambo ayilungele lesi simo.

Kufanele ngimbone nini udokotela wami?

Uma uzwa ubuthakathaka obusha bemisipha, noma uma ubuthakathaka bakho bubonakala buba bubi kakhulu, bona udokotela ngokushesha. Futhi, qaphela ezinye izimpawu, njengomkhuhlane kanye nobunzima bokuphefumula.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Ungabuza udokotela imibuzo efana nale:

• Akekho emndenini wami one-FSHD. Kungani ngithole lokhu?
• Yiziphi izindlela zokwelapha izinkinga zami zamanje?
• Ingabe izimpawu zami zizoba zimbi kakhulu?
• Izimpawu zami zizoshesha kangakanani ukuba zimbi kakhulu?
• Ingabe amalungu omndeni wami kufanele ahlolwe izakhi zofuzo?
• Yimaphi amaqembu okusekelana angangisiza?

Uma uthola ukuthi une-FSHD, ungase uzizwe ukhululekile, ucabanga ukuthi, "O, yingakho imisipha yami ingasebenzi kahle isikhathi eside kangaka, yingakho ngingakwazi ukumamatheka noma ukuphakamisa izingalo zami." Manje njengoba usuyazi ukuthi yini engalungile, ungase ube nelukuluku futhi ukhathazeke ngokuthi kuzokwenzekani ngokulandelayo. Uma unemibuzo, udokotela wakho uyindawo engcono kakhulu yokuthola ulwazi mayelana nokuthi yini ongayilindela.

Yimuphi umyalezo esifuna ukuwuthatha ekhaya kule ndaba?

I-FSHD yisifo esiqhubekayo esiqala ngokwenza buthaka imisipha yobuso, amahlombe, kanye nezingalo. Singadluliselwa ngofuzo, noma singabangelwa izinguquko ezintsha zofuzo. Nakuba kungekho ikhambi laso, ukuphatha izimpawu nokuthola usizo oludingayo kungakusiza ukuthi ugcine impilo yakho isezingeni elihle. Uma unalezi zimpawu, kubalulekile ukufuna iseluleko sezokwelapha ngokushesha okukhulu. Futhi, khumbula ukuthi awuwedwa kulolu hambo. Kwangathi ungathola amandla okubhekana nalesi simo ngolwazi olufanele, ukwesekwa, kanye nesimo sengqondo esihle!

` I-FSHD, i-Facioscapulohumeral Muscular Dystrophy, ubuthakathaka bemisipha, isifo semisipha, isifo sofuzo, ubuhlungu behlombe, imisipha yobuso