Ingaba izihlunu zakho zobuso nezegxalaba zibuthathaka? Masithethe nge-FSHD (Facioscapulohumeral Muscular Dystrophy)!

Ngaba ngamanye amaxesha uziva ngathi izihlunu ebusweni bakho, emagxeni, okanye ezingalweni zakho zibuthathaka kancinci? Mhlawumbi unobunzima bokuncuma okanye ukubetha umlozi. Ukuba unale mpawu, isenokuba ibangelwa yimeko yobuthathaka bemisipha ebizwa ngokuba yiFSHD. Makhe sithethe ngale nto ngokweenkcukacha, ngokulula.

Yintoni i-FSHD?

Ngamafutshane, i-FSHD sisifo esibangela ukuba izihlunu zibe buthathaka kwaye zinciphe kancinci kancinci. Sikwelinye lamaqela amakhulu ezifo ezibizwa ngokuba yi-``Muscular Dystrophy (MD)``. Sidla ngokuqala kwizihlunu zobuso bakho, emagxeni, nakwiingalo ezingaphezulu. Kodwa ngokuhamba kwexesha, sinokuchaphazela nayiphi na izihlunu emzimbeni wakho. Sisifo esizuzwe njengelifa. Nangona abanye abantu benokuqala ukuba neempawu kwasebuntwaneni, iimpawu zihlala ziqala ukubonakala kubantu abadala, ngokuqhelekileyo phakathi kweminyaka eli-15, engama-20, nengama-30. Ungakhathazeki, akukho nyango loku okwangoku. Nangona kunjalo, kukho unyango olunokukunceda ukulawula iimpawu zakho kwaye uphile ubomi obuqhelekileyo.

Ngaba kukho iintlobo ze-FSHD?

Kukho iintlobo ezimbini eziphambili ze-FSHD. Iimpawu ziyafana kuzo zombini, kodwa unobangela wesifo wahlukile kancinci.

Uhlobo lwe-`FSHD1`

Oku kwenzeka kwiimeko ezingama-95 ekhulwini. Oku kwenzeka xa i-gene engasebenzi rhoqo kwiiseli zomzimba wethu iqala ukusebenza ngequbuliso. Iiproteni eziveliswa yile gene isandul’ ukusebenza zitshabalalisa iiseli zemisipha. Khawuthelekelele, oku kufana nokuvusa umntu oleleyo umnike umsebenzi aze amenze abe nexhala.

Uhlobo lwe-`FSHD2`

Iipesenti ezintlanu eziseleyo (5%) zezolu hlobo. Njenge-'FSHD1', apha nakhona, iiproteni ezivela kwi-activated gene zonakalisa izihlunu. Nangona kunjalo, i-'FSHD2' ibangelwa kukuguquka okanye utshintsho kwi-gene eyahlukileyo. Olu tshintsho lwe-gene luvuselela i-gene ekufanele ukuba ingasebenzi. Ukuchaneka, kufana ne-'switch' elawula ukuqhekeka kwe-gene.

Ingaba esi sifo sibizwa ngokuba yi-FSHD sixhaphakile?

Abaphandi bakholelwa ukuba esi sifo sichaphazela abantu abane (4) ukuya kwabalishumi (10) kwikhulu lamawaka ngalinye . Oko kuthetha ukuba sinqabile kancinci, kodwa kusenokwenzeka ukuba aba baguli bakhona naseSri Lanka.

Zithini iimpawu ze-FSHD?

Igama elithi FSHD livela kwigama lesiLatini nelezonyango. Oko kukuthi, ngokweendawo zomzimba apho ezi mpawu ziqala ukubonakala khona. Masibone ukuba zithini.

• `Ubuso`: Oku kuthetha ubuso . Abantu abane-FSHD banengxaki yokuphefumla imilebe yabo nokusela nge-straw. Ngamanye amaxesha balala amehlo abo evulekile kancinci. Oku kungenxa yokuba izihlunu ezibagcina bevalekile azikwazi ukuwavala. Abanye abantu banokuziva ngathi elinye icala lobuso babo alisebenzi kakuhle nangona bencumile.
• `Scapulo`: Oku kuthetha ibhere yamagxa.I-FSHD ibangela ukuba izihlunu ezisemagxeni akho zibe buthathaka. Xa ushukumisa amahlombe akho, amahlombe akho avele ngasemva aze aphakame aye entanyeni yakho, njengamaphiko . Oogqirha bakubiza oku ngokuthi "yi-scapular winging." Oku kunokwenza kube nzima ukuphakamisa iingalo zakho okanye ukuphakamisa izinto ezinzima.
• I-Humeral: Oku kubhekisa kwingalo ephezulu. Oko kukuthi, ithambo eliqala egxalabeni ukuya engqinibeni. Ukuba une-FSHD, izihlunu ezingalweni yakho yangaphambili (i-biceps) kunye nengalo engasemva (i-triceps) ziba buthathaka ngendlela engaqhelekanga. Oku kwenza kube nzima ukwenza izinto ezinjengokuphakamisa iingalo zakho ngaphezu kwamahlombe akho, ukukama iinwele zakho, okanye ukuthabatha into ethile eshelufini.

Kwi-FSHD , izihlunu ezahlukeneyo zinokuchaphazeleka ngamaxesha ahlukeneyo. Umzekelo, ingalo yakho yasekunene isenokuba buthathaka, kodwa ingalo yakho yasekhohlo isenokuba buthathaka. Okanye zombini iingalo zisenokuba buthathaka, kodwa enye inokuba buthathaka kakhulu kunenye.

Ezinye iimpawu eziqhelekileyo:

• Isisu esiphumayo ngenxa yobuthathaka bemisipha yesisu esisezantsi.
• Ithambo lesifuba litshone ngaphakathi.
• Iingalo ezibuthathaka okanye ezigobileyo.
• Ukudinwa okungapheliyo. Oko kuthetha ukuziva udiniwe ngalo lonke ixesha.
• Ngamanye amaxesha kukho intlungu enzima . Le ntlungu inokuvela kwimisipha kunye namalungu.

Zithini iziphumo ebezingalindelekanga ze-FSHD?

Esi sifo sinokuba nezinye iziphumo ebezingalindelekanga. Umzekelo, ukubona, ukuva, nokuhamba kunokuchaphazeleka . Malunga namashumi amabini ekhulwini (20%) abantu abane-FSHD kuya kufuneka basebenzise isitulo esinamavili emva kweminyaka engama-50.

Ezinye iimeko ezithile:

• Isifo seCoats: Imithambo yegazi engaqhelekanga kwi-retina, eyinxalenye yangaphakathi yeliso. Oku kunokuchaphazela ukubona.
• I-Exposure keratitis: Ukoma kwenxalenye engaphambili yeliso (i-cornea) ngenxa yokungakwazi ukuvala iliso kakuhle. Oku kunokubangela ukubomvu kunye nentlungu emehlweni.
• Ubunzima bokuva izandi ezivakala kakhulu (`Ukulahlekelwa kukuva kakhulu`). Oku kuthetha ukuba izandi ezivakala kancinci azivakali kakuhle.
• `Indlela yokuhamba ngeenyawo yaseTrendelenburg`: Ubuthathaka kwimisipha yethanga bubangela ukuhamba okushukumayo kwicala elichaphazelekayo.
• `Ukuhla kweenyawo`: Ukungakwazi ukugoba unyawo lubheke phezulu. Oku kunokubangela ukuba unyawo lurhuqe emhlabeni xa uhamba, nto leyo enokubangela ukuba ukhubeke.
• I-Lordosis: Ukugoba komqolo ongezantsi phambili.
• I-Scoliosis: Ukugoba komqolo ecaleni.

Zithini izizathu ze-FSHD?

Njengoko besikhe sathetha ngaphambili, zimbini izizathu eziphambili ze-FSHD. Zombini zinxulumene ne-genes.

I-`FSHD1` yenziwe ngolu hlobo lulandelayo:Ijini ethi `DUX4` kwiiseli zomzimba wethu idla ngokungasebenzi. Oko kukuthi, ayisebenzi. Kodwa xa le jini isebenza, iiproteni eziveliswa yiyo ziyayonakalisa imisipha. Ekuhambeni kwexesha, imisipha echaphazelekayo iyabuthathaka kwaye inciphe (atrophy).

I-`FSHD2` ibangelwa kukuguquka kwejini ye-`SMCHD1` emzimbeni wethu. Le jini ye-`SMCHD1` idla ngokunceda ukugcina ijini ye-`DUX4` ingasebenzi. Kufana nesango elivaliweyo. Kodwa xa ijini ye-`SMCHD1` itshintsha, ayisebenzi kakuhle. Emva koko, njengakwi-`FSHD1`, iiproteni eziveliswa yijini ye-`DUX4` esebenzayo zonakalisa izihlunu.

I-FSHD ifunyanwa njani njengelifa?

Esi sifo sizuzwa njengelifa ngendlela elawulwa yi-autosomal. Oku kuthetha ukuba nokuba omnye umzali unekopi enye ye-gene engaqhelekanga, abantwana bakhe basenokufumana esi sifo. Umntu one-FSHD unethuba elingama-50 ekhulwini (50%) lokudlulisela i-gene engaqhelekanga ebantwaneni bakhe. Oku kuthetha ukuba ukuba banabantwana ababini, omnye wabo unethuba lokufumana esi sifo.

Nangona kunjalo, malunga nama-30 ekhulwini (30%) abantu abane-FSHD1 abanayo imbali yesifo kusapho lwabo. Abaphandi bakholelwa ukuba oku kusenokuba kungenxa yotshintsho olutsha olwenzeka emva kokukhulelwa. Oku kusenokuba kungenxa yemeko ebizwa ngokuba yi-mosaicism. I-Mosaicism kuxa ukwakheka kwezakhi zofuzo zeeseli kumntu omnye kwahlukile. Ngamafutshane, ezinye iiseli emzimbeni zine-gene enengxaki, ngelixa ezinye zingenazo.

Ziziphi izinto ezibangela umngcipheko wokuphuhlisa i-FSHD?

Eyona nto ibangela ukuba ube nesi sifo yimbali yosapho. Oku kuthetha ukuba ukuba umama wakho, utata wakho, okanye abantakwenu banesi sifo, nawe unokuba naso.

Ifunyaniswa njani i-FSHD?

Ugqirha uza kuqala akunike uvavanyo olupheleleyo lomzimba. Emva koko uza kukubuza ukuba kukho umntu kusapho lwakho okhe waba nezi mpawu okanye i-FSHD.

Ukongeza, ungenza iimvavanyo ezifana nezi:

• Uvavanyo lwegazi: Olu vavanyo lujonga ikakhulu amanqanaba ee-enzymes ezibizwa ngokuba yi-`(serum creatine kinase)` kunye ne-`(serum aldolase)`. Ukuba la manqanaba ee-enzymes aphezulu, isenokuba luphawu lokuba kukho ingxaki kwimisipha.
• Uvavanyo lwe-Neurological: Olu vavanyo lwenziwa ukuze kuthintelwe ezinye iimeko zenkqubo ye-nervous. Lujonga izinto ezifana ne-reflexes yakho kunye nokulungelelaniswa kwayo. Lukwajonga neendlela zobuthathaka bemisipha kunye nokuba izihlunu zakho ziyancipha okanye ziyaqina na (i-electromyography).
• I-biopsy yemisipha: Kolu vavanyo, kuthathwa isampulu encinci yezicubu zemisipha ize ihlolwe phantsi kwemakroskopu. Oku kunokubonisa umonakalo kwiiseli zemisipha.
• Uvavanyo lwe-genetic:Olu lolona vavanyo kuphela olunokuqinisekisa ngokuchanekileyo ukuba kukho i-FSHD kunye nohlobo lwayo. Lunokufumanisa ukuba kukho ingxaki kwi-gene ye-`DUX4`.

Ziziphi iindlela zonyango ze-FSHD?

Njengoko besitshilo ngaphambili, akukho nyango lwe-FSHD. Nangona kunjalo, kukho iindlela ezimbalwa oogqirha abazicebisayo zokunceda ukulawula iimpawu nokwenza ubomi bube lula:

• Unyango lomzimba: Oku kubandakanya ukuzilolonga kunye nonyango lokugcina izihlunu zomelele kwaye amalungu ahamba kakuhle.
• Izixhobo zokuxhasa izihlunu ezibuthathaka: Umzekelo, ii-corsets zemisipha yesisu ebuthathaka, izixhasi zomqolo, kunye nee-braces zokunciphisa iintlungu zamagxa neengalo. Kwakhona, ii-orthotics zezihlangu zakho ukuze kube lula ukuhamba nokunciphisa ukuwa.
• Ukufakelwa kwe-scapular ngotyando yinkqubo ephucula umgama wokunyakaza kwegxalaba. Oku kuqinisa i-blade yegxalaba esifubeni, okwenza kube lula ukuphakamisa ingalo.

Ingakanani iminyaka yobomi bomntu one-FSHD?

Lo ngumbuzo abantu abaninzi abawubuzayo. Kwiimeko ezininzi, abantu abane-FSHD banokuphila ubomi obuqhelekileyo. Oko kukuthi, esi sifo asibufinyezi ubomi. Musa ukukhathazeka ngaso.

Ndingazinyamekela njani?

I-FSHD sisifo esitshintsha ubomi esingenalo unyango okwangoku. Kodwa nazi ezinye iingcebiso zokukunceda uphile nale meko:

• Nxibelelana nabanye abantu abane-FSHD. Esi sisifo esingaqhelekanga, ngoko ke abantu abaninzi abazi ngaso. Usenokungathandi ukuthetha ngemeko yakho, kwaye unokuziva unesizungu kwaye unesizungu. Ukuthetha nabanye abadlula kwinto efanayo nawe kunokuba luncedo olukhulu. Kunokubakho amaqela enkxaso kwizigulana ezinje eSri Lanka.
• Bona ingcali yezonyango ngomsebenzi. I-FSHD ithintela izinto onokuzenza wedwa. Ukulahlekelwa kukuzimela kwakho kunokuba yinto ecaphukisayo neyoyikisayo. Unyango lomsebenzi lunokukunceda ulungelelane nale meko intsha kwaye lukuncede wenze imisebenzi yemihla ngemihla ngokulula.
• Yenza umthambo olula "we-aerobic". Ukuzilolonga okufana nokudada nokuhamba kunceda ukuba ushukume. Ngaphezu koko, umthambo unceda ukunciphisa uxinzelelo. Nangona kunjalo, qiniseka ukuba uthetha nogqirha wakho ngaphambi kokuba uqalise inkqubo yokuzilolonga. Kuba eminye imithambo ayilungelanga le meko.

Ndifanele ndimbone nini ugqirha wam?

Ukuba ufumana ubuthathaka obutsha bemisipha, okanye ukuba ubuthathaka bakho bubonakala buya busiba mandundu, bona ugqirha ngokukhawuleza. Kwakhona, qaphela ezinye iimpawu, ezinje ngomkhuhlane kunye nobunzima bokuphefumla.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ungabuza ugqirha imibuzo efana nale:

• Akukho mntu kusapho lwam one-FSHD. Kutheni ndifumene oku?
• Ziziphi iindlela zonyango zeengxaki zam zangoku?
• Ngaba iimpawu zam ziya kuba mandundu?
• Iimpawu zam ziya kuba mandundu ngokukhawuleza kangakanani?
• Ngaba amalungu osapho lwam kufuneka avavanywe ngokwemfuza?
• Ngawaphi amaqela enkxaso anokundinceda?

Xa ufunyaniswa ukuba une-FSHD, ungaziva ukhululekile, ucinge, "Owu, yingakho izihlunu zam zingasebenzi kakuhle ixesha elide kangaka, kutheni ndingakwazi ukuncuma okanye ukuphakamisa iingalo zam." Ngoku ekubeni uyazi ukuba yintoni engalunganga, usenokuba nomdla kwaye uxhalabile malunga nokuba kuza kwenzeka ntoni emva koko. Ukuba unemibuzo, ugqirha wakho yindawo efanelekileyo yokufumana ulwazi malunga nokuba ulindele ntoni.

Sithini isigidimi esifuna ukusithatha ekhaya kweli bali?

I-FSHD sisifo esiqhubekayo esiqala sibuthathaka izihlunu zobuso, amahlombe, kunye neengalo. Sinokufunyanwa njengelifa, okanye sinokubangelwa ziinguqu ezintsha zemfuza. Nangona kungekho nyango lwaso, ukulawula iimpawu kunye nokufumana uncedo olufunayo kunokukunceda ugcine umgangatho wobomi obuhle. Ukuba unale mpawu, kubalulekile ukufuna iingcebiso zonyango ngokukhawuleza. Kwakhona, khumbula ukuba awuwedwa kolu hambo. Ngamana ungafumana amandla okujongana nale meko ngolwazi olufanelekileyo, inkxaso, kunye nesimo sengqondo esihle!

` I-FSHD, i-Facioscapulohumeral Muscular Dystrophy, ubuthathaka bemisipha, isifo semisipha, isifo semfuza, iintlungu zamagxa, izihlunu zobuso