I-Limb-bhanti yebhanti yemisipha

I-Limb-girdle muscular dystrophies ibandakanya ubuncinci izifo ezi-18 ezizuzwe njengelifa. (Zili-16 iintlobo ezaziwayo zemfuzo.) Ezi ngxaki ziphazamisa izihlunu ezijikeleze ibhanti kunye nesinqe. Ezi zifo ziya zisiba mandundu. Ekugqibeleni, inokubandakanya ezinye izihlunu.

I-Limb-girdle muscular dystrophies liqela elikhulu lezifo zemfuzo apho kukho ubuthathaka bemisipha kunye nokuchitha (i-muscular dystrophy).

Kwiimeko ezininzi, bobabini abazali kufuneka badlulise uhlobo olungasebenziyo (olunesiphene) lomntwana ukuze umntwana abe nesifo (ilifa elizimeleyo). Kwezinye iintlobo ezinqabileyo, ngumzali omnye kuphela ofuna ukugqithisa uhlobo olungasebenziyo lokuchaphazela umntwana. Oku kubizwa ngokuba lilifa elikhulu le-autosomal. Okwe-16 kwezi meko, kufunyenwe uhlobo olungalunganga. Kwabanye, ufuzo alukaziwa.

Umngcipheko obalulekileyo kukuba nelungu losapho elinedysophyti yemisipha.

Rhoqo, uphawu lokuqala bubuthathaka bemisipha ye-pelvic. Imizekelo yoku ibandakanya ingxaki yokuma kwindawo ohleli kuyo ngaphandle kokusebenzisa iingalo, okanye ubunzima bokunyuka ngezinyuko. Ubuthathaka buqala ebuntwaneni buye ebudaleni.

Ezinye iimpawu zibandakanya:

• Ukungaqhelekanga, ngamanye amaxesha ukuhamba, ukuhamba
• Amalungu athe nzo endaweni yesivumelwano (emva kwexesha lesi sifo)
• Amathole amakhulu kwaye ajongeka njengesihlunu (pseudohypertrophy), angenamandla kwaphela
• Ukuphulukana nobunzima bemisipha, ukunciphisa amalungu athile omzimba
• Intlungu ebuyela emva
• Iipalpitations okanye ukupasa
• Ubuthathaka bamagxa
• Ubuthathaka bemisipha ebusweni (kamva kwesi sifo)
• Ubuthathaka kwimisipha yemilenze esezantsi, iinyawo, iingalo ezisezantsi kunye nezandla (kamva kwesi sifo)

Uvavanyo lunokubandakanya:

• Amanqanaba okudala egazi
• Uvavanyo lwe-DNA (uvavanyo lweemolekyuli)
• Echocardiogram okanye ECG
• Uvavanyo lwe-Electromyogram (EMG)
• Imisipha biopsy

Akukho lunyango lwazi lubuyisa ubuthathaka bemisipha. Unyango lwe-Gene lunokufumaneka kwixesha elizayo. Unyango oluxhasayo lunokunciphisa iingxaki zesi sifo.

Imeko ilawulwa ngokusekwe kwiimpawu zomntu. Ibandakanya:

• Ukubeka iliso kwintliziyo
• Uncedo lokuhamba
• Ulungiso lwenyama
• Unonophelo lokuphefumla
• Ukulawula ubunzima

Utyando ngamanye amaxesha luyafuneka kuyo nayiphi na ingxaki yethambo okanye edibeneyo.

Umbutho weMuscular Dystrophy sisibonelelo esigqwesileyo: www.mda.org

Ngokubanzi, abantu bahlala benobuthathaka obuhamba kancinci kwezihlunu ezichaphazelekayo kwaye zisasazeka.

Esi sifo sibangela ukulahleka kwentshukumo. Umntu unokuxhomekeka kwisitulo esinamavili kwisithuba seminyaka engama-20 ukuya kwengama-30.

Ubuthathaka bemisipha yentliziyo kunye nokusebenza kombane okungaqhelekanga kwentliziyo kunokunyusa umngcipheko wokubetha, ukuphelelwa ngamandla, kunye nokufa ngesiquphe. Uninzi lwabantu abaneli qela lezifo bahlala ebudaleni, kodwa abafikeleli kwiminyaka yabo yobomi.

Abantu abane-limb-girdle muscular dystrophies banokufumana iingxaki ezinje:

• Isingqisho sentliziyo esingaqhelekanga
• Izivumelwano zamalungu
• Ubunzima ngemisebenzi yobomi bemihla ngemihla ngenxa yobuthathaka begxalaba
• Ubuthathaka obuqhubela phambili, obunokukhokelela ekubeni ufune isitulo esinamavili

Biza umboneleli wakho wokhathalelo lwempilo ukuba wena okanye umntwana wakho uziva ubuthathaka ngelixa usuka kwindawo yokuhlutha. Tsalela umnxeba kwimfuzo ukuba wena okanye ilungu losapho uye wafumanisa ukuba une-muscular dystrophy, kwaye uceba ukukhulelwa.

Iingcebiso ngezofuzo zinikezelwa kubantu abachaphazelekayo kunye neentsapho zabo. Kungekudala kuvavanyo lweemolekyuli kuya kubandakanya ukulandelelana ngokupheleleyo kwe-genome kwizigulana nakwizihlobo zazo ukuze kuphuculwe isifo. Iingcebiso ngemfuzo zinokunceda ezinye izibini kunye neentsapho ukuba zifunde ngomngcipheko kunye noncedo locwangciso-ntsapho. Ikwavumela ukudibanisa izigulana ezinobhaliso lwezifo kunye nemibutho yezigulana.

Ezinye zeengxaki zinokuthintelwa ngonyango olufanelekileyo. Umzekelo, i-cardiac pacemaker okanye i-defibrillator inokuwunciphisa kakhulu umngcipheko wokufa ngesiquphe ngenxa yesingqisho sentliziyo esingaqhelekanga. Unyango lomzimba luyakwazi ukukhusela okanye ukulibazisa isivumelwano kunye nokuphucula umgangatho wobomi.

Abantu abachaphazelekayo banokufuna ukwenza ibhanki ye-DNA. Uvavanyo lwe-DNA luyacetyiswa kwabo bachaphazelekayo. Oku kunceda ekuchongeni ukutshintsha kwemfuza yosapho. Nje ukuba uguquko lufunyenwe, uvavanyo lwe-DNA lwangaphambi kokubeleka, ukuvavanywa kwabaphetheyo, kunye nokuchongwa kwangaphambili kwemfuza kunokwenzeka.

Imisipha ye-dystrophy - uhlobo lomlenze webhanti (LGMD)

• Imisipha yangaphandle yangaphandle

Bharucha-Goebel DX. Izihlunu zemisipha. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 627.

UFinkel RS, uMohassel P, uBonnemann CG. Ukuzalwa, umbhinqo wamalungu kunye nezinye izidyungule zemisipha. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, ii-eds. I-Swaiman's Pediatric Neurology. Umhla wesi-6. Elsevier; Ngo-2017: isahl. 147.

UMohassel P, uBonnemann CG. I-Limb-bhanti yebhanti yemisipha. Ku: Darras BT, Jones HR, Ryan MM, DeVivo DC, ii-eds. Ukuphazamiseka kwi-Neuromuscular of Childhood, Ubuntwana, kunye nokufikisa. Ngomhla wesi-2. I-Waltham, MA: I-Elsevier yezeMfundo; 2015: isahluko 34.