Ngaba wena okanye umntu ohlala nawe, ingakumbi umntwana, nikhe naphawula ukuba umzimba wakho uya uphelelwa ngamandla kancinci kancinci? Mhlawumbi kuye kwaba nzima ukuhamba, ukubaleka, okanye ukunyuka izinyuko. Ngaba wakha waba nobunzima bokuvuka kwindawo ohleli kuyo, usebenzisa izandla zakho ukucinezela phantsi kunye namadolo akho ukuze uvuke? Ukuba unale mpawu, siza kuthetha ngesizathu esinye esinokubakho namhlanje. Loo yi-muscular dystrophy. Musa ukoyika xa usiva igama. Masithethe ngale nto ngokulula, ngendlela wonke umntu anokuyiqonda.
Yintoni iMuscular Dystrophy?
Ngamafutshane, i-muscular dystrophy liqela leemeko zemfuza ezingaphezu kwama-30 ezichaphazela ukusebenza kwezihlunu zethu, zizenza buthathaka kancinci kancinci. Igama elithi "genetic" lithetha ukuba linokudluliselwa kwizizukulwana ngezizukulwana. Kwezi meko, umzimba ulahlekelwa ngamandla awo okuvelisa iiproteni ezifunekayo ukugcina izihlunu ziphilile. Ngenxa yoko, izihlunu zilahlekelwa ngamandla ngokuhamba kwexesha kwaye ziyancipha.
Esi sisifo esibizwa ngokuba yi-myopathy, nto leyo ethetha ukuba sichaphazela izihlunu ezinamathele kumathambo ethu. Ngokuxhomekeke kuhlobo lwesifo, sinokuchaphazela amandla akho okuhamba, ukushukuma, nokwenza imisebenzi yemihla ngemihla. Sinokuchaphazela nezihlunu ezinceda intliziyo kunye nemiphunga yethu isebenze.
Ezinye iintlobo ze-muscular dystrophy zizalwa nazo okanye zibonakala ebuntwaneni. Ezinye iintlobo zivela ebudaleni.
Ziziphi iintlobo eziphambili ze-muscular dystrophy?
Njengoko besitshilo ngaphambili, kukho iintlobo ezingaphezu kwama-30 zale nto. Kodwa masithethe ngezinye zezona zixhaphakileyo esizibona rhoqo. Kuya kuba lula kuwe ukuqonda ezi nkcukacha kwitheyibhile.
| Uhlobo lwesifo | Ingcaciso elula |
|---|---|
| I-Duchenne Muscular Dystrophy (DMD) | Olu lolona hlobo luxhaphakileyo. Luchaphazela kakhulu abafana . Amantombazana nawo anokuba nalo ngendlela engembi kangako. Njengoko esi sifo siqhubeka, intliziyo nemiphunga nayo iyachaphazeleka. |
| I-Becker Muscular Dystrophy (BMD) | Olu lolona hlobo lwesibini oluxhaphakileyo. Lukwachaphazela kakhulu abafana. Iimpawu zinokubonakala nakubani na phakathi kweminyaka emi-5 nama-60 ubudala, kodwa zihlala ziqala xa umntu efikisa. Ubunzima besifo buyahluka kumntu nomntu. |
| I-Myotonic Dystrophy | Olu lolona hlobo luxhaphakileyo olufunyaniswa kubantu abadala. Luchaphazela amadoda nabafazi ngokulinganayo. Abantu abanale meko banengxaki yokuphumza izihlunu emva kokuyisebenzisa. Lunokubangela iingxaki zentliziyo, imiphunga, kunye neehomoni ezifana ne-thyroid kunye nesifo seswekile. |
| I-Congenital Muscular Dystrophies (CMD) | Igama elithi "Congenital" lithetha ukubakho ukususela ekuzalweni. Ezi ntlobo zivela ekuzalweni okanye kufutshane nokuzalwa. Zidla ngokubandakanya ubuthathaka bemisipha emzimbeni wonke. Ngamanye amaxesha kunokubakho ukuqina okanye ukuyekelela kwamalungu. Zinokubangela nezinto ezifana ne-scoliosis, ubunzima bokuphefumla, ukukhubazeka kwengqondo, iingxaki zamehlo, okanye ukuxhuzula. |
| I-Facioscapulohumeral Dystrophy (FSHD) | Olu hlobo luchaphazela kakhulu izihlunu zobuso, amahlombe, kunye neengalo ezingaphezulu. Iimpawu zihlala zibonakala ngaphambi kokuba zifikelele kwiminyaka engama-20. |
| I-Limb-Girdle Muscular Dystrophy (LGMD) | Oku kuchaphazela izihlunu zeengalo eziphezulu, imilenze ephezulu (amathanga), amagxa, kunye namaqaqa. Ingakhula nakweyiphi na iminyaka. |
Into ebalulekileyo kukuba iimpawu kunye nesantya sokuqala kolu hlobo ngalunye lwahlukile, ngoko ke kubaluleke kakhulu ukuchonga ngokuchanekileyo uhlobo lwesifo.
Zithini iimpawu ze-muscular dystrophy?
Iimpawu zesi sifo zinokwahluka kakhulu ngokuxhomekeke kuhlobo lwaso.Uphawu oluphambili kubuthathaka bemisipha kunye neengxaki ezinxulumene noko. Ezi mpawu zihlala zikhula kancinci kancinci ngokuhamba kwexesha.
Masizahlule ezi mpawu zibe ngamacandelo amabini.
| Uhlobo oluneempawu | Izinto onokuzibona |
|---|---|
| Iimpawu ezinxulumene nezihlunu kunye nokuhamba | |
| Ukuqina kwemisipha | Ukuphelelwa ngamandla kwemisipha nokuncipha (ukuwohloka kwemisipha). |
| Ubunzima bokuhamba | Ubunzima bokuhamba, ukunyuka izinyuko, okanye ukubaleka. |
| Ukuhamba ngendlela engaqhelekanga | Ukuhambahamba okanye ukuhamba ngeenyawo, njengedada. |
| Iingxaki zamalungu | Ukuqina kwamalungu okanye ukukhululeka okungeyomfuneko. |
| Ukuqina kwemisipha | Ukuqina okungapheliyo kwemisipha, imisipha, kunye nolusu (ukuqiniswa). |
| Intlungu yemisipha | Intlungu yomzimba nemisipha. |
| Ezinye iimpawu eziqhelekileyo | |
| Ukudinwa komzimba | Ukudinwa. |
| Ubunzima bokuginya | Ubunzima bokuginya ukutya nokusela (i-Dysphagia). |
| Iingxaki zentliziyo | Ukungahambi kakuhle kwesingqisho sentliziyo (arrhythmia) kunye nesifo sentliziyo (cardiomyopathy). |
| Utshintsho oluvela ngasemva | I-Scoliosis. |
| Ukukhubazeka kokufunda | Ezinye iintlobo zinokubangela ubunzima bokufunda okanye ukukhubazeka kwengqondo. |
Kutheni esi sifo senzeka? Yintoni unobangela?
Isizathu esiphambili soku kukutshintsha (ukuguqulwa kwezakhi zofuzo).
Khawucinge ukuba izihlunu zethu zinesicwangciso esibizwa ngokuba ziijini ezizigcina ziphilile kwaye zomelele. Ukuba kukho utshintsho okanye utshintsho kwezi jini, eso sicwangciso siyaphazamiseka. Emva koko iiseli ezigcina nezakha izihlunu azikwazi ukwenza umsebenzi wazo ngokufanelekileyo. Ngenxa yoko, izihlunu ziba buthathaka kancinci kancinci.
Kukho iindlela ezintathu esi sifo esidluliselwa ngazo njengelifa.
- Ilifa elibuyisela umva: Kule ndlela, umntwana kufuneka azuze ilifa le-gene enesiphene kubazali bobabini ukuze esi sifo senzeke.
- Ilifa elilawulayo: Apha, i-gene enesiphene ukuze isifo sivele kufuneka ifunyanwe ngumzali omnye .
- Ilifa elinxulumene nesondo (X-linked): Oku kunzima ngakumbi. Abafazi bane-chromosomes ezimbini ze-X (XX), ngelixa amadoda ene-chromosome enye ye-X kunye nenye ye-Y (XY). I-gene enesiphene sesifo ikwi-chromosome ye-X. Amadoda ane-chromosome enye ye-X kuphela, ngoko ke ukuba inesiphene, ngokuqinisekileyo esi sifo siya kuvela. Abafazi bane-chromosomes ezimbini ze-X, ngoko ke ukuba enye inesiphene, enye i-chromosome ye-X esempilweni isenokungabangeli zimpawu okanye ingabangela iimpawu ezincinci kakhulu. Ezi ntlobo zimbini, iDuchenne kunye neBecker, zizuzwe ngale ndlela.
Kunqabile kakhulu, esi sifo sinokwenzeka ngenxa yokuguquka kwezakhi zofuzo okungacwangciswanga (de novo mutation) emzimbeni womntwana, ngaphandle kweziphene kwizakhi zofuzo zabazali.
Ufumanisa njani ukuba unaso esi sifo?
Ukuba wena okanye umntwana wakho ninayo nayiphi na kwezi mpawu, into yokuqala ekufuneka uyenze kukubona ugqirha onamava. Ugqirha uza kuqala akuhlole kakuhle, akubuze ngeempawu zakho kunye nembali yosapho lwakho, aze emva koko akucebise ukuba kwenziwe uvavanyo oluninzi ukuqinisekisa ukuba unesifo.
- Uvavanyo lwegazi lwe-Creatine kinase: Xa izihlunu zethu zonakele, zikhupha i-enzyme ebizwa ngokuba yi-creatine kinase egazini. Ukuba inqanaba lale enzyme liphezulu egazini, luphawu lokuba izihlunu zonakele.
- Uvavanyo lwemfuza: Olu vavanyo lunokumisela ngokuqinisekileyo ukuba kukho iziphene kwiimfuza ezinxulumene ne-muscular dystrophy.
- Uvavanyo lwe-biopsy yemisipha: Oku kuquka ukuthatha iqhekeza elincinci kakhulu lesicubu kwisihlunu uze usihlolisise nge-microscope. Oku kunokunceda ekuchongeni iimpawu zesifo.
- I-Electromyography (EMG): Olu vavanyo lulinganisa umsebenzi wombane wemisipha kunye nemithambo-luvo.
Iphathwa kwaye ilawulwa njani?
Into yokuqala neyona ibalulekileyo ekufuneka siyithethe kukuba akukho nyango lwesi sifo okwangoku. Abaphandi bayaqhubeka nokusebenza kuso.
Kodwa oko akuthethi ukuba akukho nto unokuyenza. Zininzi izinto onokuzenza ukulawula iimpawu zakho nokuphucula umgangatho wobomi bakho.
Iindlela zonyango zinokwahluka ngokuxhomekeke kuhlobo lwesifo. Izinto eziphambili ezenziwayo zezi:
- Unyango lomzimba nolwemisebenzi: Olu nyango lunceda ukuqinisa izihlunu nokwandisa ukuguquguquka. Oku kunokunceda ukugcina ukuhambahamba ixesha elide kangangoko kunokwenzeka.
- Ii-Corticosteroids: Amayeza afana ne-prednisolone anokunceda ekunciphiseni ubuthathaka bemisipha, ukuphucula ukusebenza kwemiphunga, ukunciphisa ukulahleka kwamathambo, kunye nokwandisa ixesha lokuphila.
- Izixhobo zokuncedisa ukuhamba: Izixhobo ezifana neenduku, izixhobo zokuhamba, kunye nezitulo ezinamavili zikunceda uhambe, ujikeleze, kwaye uthintele ukuwa.
- Utyando: Utyando lunokufuneka ukuze kuphumzwe izihlunu eziqinileyo okanye kulungiswe i-scoliosis.
- Ukhathalelo lwentliziyo: Ukuqaliswa kwangoko kwamayeza anjenge-ACE inhibitors kunye ne-beta-blockers kunokunceda ukulawula umonakalo kwimisipha yentliziyo. Izixhobo ezifana ne-pacemakers nazo zinokufuneka.
- Unyango lokuthetha: Oku kunokunceda abantu abanengxaki yokuginya.
- Ukhathalelo lokuphefumla: Izixhobo zokuncedisa ukukhwehlela, ii-respirator, kwaye ngamanye amaxesha uncedo lokuphefumla lunokufuneka ukunceda ubunzima bokuphefumla.
Kutshanje, kuye kwaveliswa amayeza amatsha anokutshintsha indlela esi sifo ngayo kwezinye iintlobo, ezifana ne-Duchenne muscular dystrophy.
Ubomi bunjani ngesi sifo?
Ubude bexesha onokuphila nalo nesifo buyahluka kakhulu kuxhomekeke kuhlobo lwesifo. Umzekelo, abantu abane-Duchenne muscular dystrophy (DMD) badla ngokufa xa beneminyaka engama-25 ubudala. Nangona kunjalo, ezinye iintlobo, ezifana ne-oculopharyngeal muscular dystrophy, azinampembelelo kubomi obulindelekileyo. Ke ngoko, umntu ongcono ukwazi ulwazi oluchanekileyo malunga nemeko yakho ngugqirha wakho onyangayo.
Ekubeni esi sisifo semfuza, akukho ndlela yokusithintela. Nangona kunjalo, ukuba unesi sifo, okanye ukuba kukho umntu kusapho lwakho onaso, ungathetha nogqirha wakho malunga nokufumana iingcebiso zemfuza ngaphambi kokuba nomntwana.
Ezi zinto zinokunceda ukuthintela okanye ukulibazisa iingxaki ezibangelwa sisifo kwaye zenze ubomi bube lula:
- Yitya ukutya okunesondlo nokunempilo.
- Sela amanzi amaninzi ukuze uthintele ukuphelelwa ngamanzi emzimbeni kunye nokuqhinwa.
- Zilolonge kangangoko unako, njengoko kucetyiswa liqela lakho lezonyango.
- Gcina ubunzima bakho busempilweni.
- Ukuba uyatshaya, yeka. Oku kunokukhusela imiphunga yakho kunye nentliziyo yakho.
- Gonyelwa ngexesha.
Ukuphila nesifo esifana nesi kunokuba ngumceli mngeni kuwe nakusapho lwakho. Ngoko ke, qiniseka ukuba ufumana unyango olungcono kunye nonyango olufunekayo. Kwakhona, ukujoyina amaqela enkxaso nabantu abaye badlula kwiimeko ezifanayo nawe kunokuba ngumthombo omkhulu wamandla engqondo.
Umyalezo Wokuya Ekhaya
- I-Muscular dystrophy ayisosifo esinye, kodwa liqela leengxaki zemfuza eziye zibuthathaka kancinci kancinci izihlunu.
- Nangona uphawu oluphambili lubuthathaka bemisipha, iimpawu kunye nobunzima besifo ziyahluka ngohlobo nohlobo.
- Nangona kungekho nyango loku okwangoku, kukho unyango oluninzi olunokunceda ukulawula iimpawu kunye nokuphila ubomi obungcono.
- Ukuba wena okanye umntwana wakho uneempawu zobuthathaka bemisipha, bonana nogqirha ngokukhawuleza ukuze ufumane icebiso. Okukhona isifo sifunyanwa ngokukhawuleza, kokukhona kuya kuba lula ukusilawula.
- Awuwedwa. Kukho amaqela ezonyango kunye namaqela enkxaso ukunceda wena nosapho lwakho kolu hambo.
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