Ama-dystrophies emilenze yebhande

Ama-dystrophies emilenze yebhande afaka okungenani izifo ezi-18 ezahlukaniswe ngefa. (Zingu-16 izinhlobo ezaziwayo zofuzo.) Lokhu kuphazamiseka kuqala kuthinta imisipha ezungeze ibhande lehlombe nezinqulu. Lezi zifo ziba zimbi kakhulu. Ekugcineni, kungabandakanya eminye imisipha.

I-Limb-girdle muscular dystrophies yiqembu elikhulu lezifo zofuzo lapho kunobuthakathaka bemisipha nokumoshakala (muscular dystrophy).

Ezimweni eziningi, bobabili abazali kufanele badlulise isakhi sofuzo esingasebenzi (esinesici) ukuze ingane ibe nalesi sifo (ifa le-autosomal recessive). Kwezinye izinhlobo ezingavamile, umzali oyedwa kuphela odinga ukudlulisa isakhi esingasebenzi ukuze sithinte ingane. Lokhu kubizwa ngefa elikhulu le-autosomal. Ezingu-16 zalezi zimo, kutholakale isakhi sofuzo esingalungile. Kwabanye, ufuzo alukaziwa.

Into ebalulekile engcupheni yokuba nelungu lomndeni eline-muscular dystrophy.

Ngokuvamile, isibonakaliso sokuqala ubuthakathaka bemisipha yethambo. Izibonelo zalokhu zifaka phakathi inkinga yokuma endaweni yokuhlala ngaphandle kokusebenzisa izingalo, noma ubunzima bokukhuphuka izitebhisi. Ubuthakathaka buqala ebuntwaneni buze bube mdala.

Ezinye izimpawu zifaka:

• Ukuhamba okungajwayelekile, kwesinye isikhathi ukugwedla
• Amalunga aqiniswe endaweni anenkontileka (emuva kwesikhathi sesifo)
• Amathole amakhulu futhi abukeka njengemisipha (pseudohypertrophy), empeleni aqinile
• Ukulahleka kwemisipha, ukuncipha kwezitho ezithile zomzimba
• Ubuhlungu obuphansi emuva
• Ukushaywa kwamaphaphu noma iziphonso
• Ubuthakathaka bamahlombe
• Ubuthakathaka bemisipha ebusweni (kamuva kulesi sifo)
• Ubuthakathaka emisipheni yemilenze engezansi, izinyawo, izingalo eziphansi, nezandla (kamuva kulesi sifo)

Ukuhlolwa kungafaka:

• Amazinga we-creatine kinase wegazi
• Ukuhlolwa kwe-DNA (ukuhlolwa kwamangqamuzana ezakhi zofuzo)
• I-Echocardiogram noma i-ECG
• Ukuhlolwa kwe-Electromyogram (EMG)
• Imisipha biopsy

Azikho izindlela zokwelapha eziguqula ubuthakathaka bemisipha. Ukwelashwa kwe-Gene kungatholakala esikhathini esizayo. Ukwelashwa okusekelayo kunganciphisa ubunzima besifo.

Isimo siphathwa ngokuya ngezimpawu zomuntu. Kubandakanya:

• Ukuqapha kwenhliziyo
• Izinsiza zokuhamba
• Ukwelashwa ngokomzimba
• Ukunakekelwa kokuphefumula
• Ukulawula isisindo

Ukuhlinzwa kwesinye isikhathi kuyadingeka kunoma yiziphi izinkinga zethambo noma zamalunga.

I-Muscular Dystrophy Association ingumthombo omuhle kakhulu: www.mda.org

Ngokuvamile, abantu bavame ukuba nobuthakathaka obuhamba kancane kancane emisipha ethintekile futhi isakazeka.

Lesi sifo sidala ukulahleka kokuhamba. Umuntu angancika esihlalweni sabakhubazekile kungakapheli iminyaka engama-20 kuya kwengama-30.

Ubuthakathaka bemisipha yenhliziyo nomsebenzi kagesi ongajwayelekile wenhliziyo kungakhuphula ubungozi bokushaya ngamandla, ukuquleka nokufa okungazelelwe. Iningi labantu abanaleli qembu lezifo baphila ebudaleni, kepha abafinyeleli eminyakeni yabo ephelele yokuphila.

Abantu abane-limb-birdle muscular dystrophies bangabhekana nezinkinga ezinjengalezi:

• Isigqi senhliziyo esingajwayelekile
• Izinkontileka zamalunga
• Ubunzima ngemisebenzi yokuphila kwansuku zonke ngenxa yobuthakathaka behlombe
• Ubuthakathaka obuqhubekayo, obungaholela ekudingeni isihlalo sabakhubazekile

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma wena noma ingane yakho uzizwa ubuthakathaka ngenkathi usukuma endaweni yokuqothuka. Shayela i-geneticist uma wena noma ilungu lomndeni utholwe une-muscular dystrophy, futhi uhlela ukukhulelwa.

Ukwelulekwa ngofuzo manje kunikezwa abantu abathintekile nemindeni yabo. Ngokushesha ukuhlolwa kwamangqamuzana kuzobandakanya ukulandelana okuphelele kofuzo ezigulini nasezihlotsheni zazo ukuze kutholakale kangcono ukuxilongwa. Ukwelulekwa ngofuzo kungasiza eminye imibhangqwana nemindeni ukuthi ifunde ngobungozi nokusizwa ngokuhlela umndeni. Iphinde ivumele ukuxhuma iziguli ezinezifo ezibhalisiwe kanye nezinhlangano zeziguli.

Ezinye zezinkinga zingavinjelwa ngokwelashwa okufanele. Isibonelo, i-cardiac pacemaker noma i-defibrillator inganciphisa kakhulu ingozi yokufa okungazelelwe ngenxa yesigqi senhliziyo esingajwayelekile. Ukwelashwa ngokomzimba kungakwazi ukuvimbela noma ukubambezela izinkontileka futhi kuthuthukise ikhwalithi yempilo.

Abantu abathintekile bangafuna ukwenza i-DNA banking. Kunconywa ukuhlolwa kwe-DNA kulabo abathintekayo. Lokhu kusiza ukukhomba ukuguqulwa kofuzo lomndeni. Lapho ukuguqulwa sekutholakele, ukuhlolwa kwe-DNA kokubeletha, ukuhlola abathwali, nokuxilongwa ngaphambi kokufakwa kwezakhi zofuzo kungenzeka.

Imisipha dystrophy - uhlobo lomlenze webhande (i-LGMD)

• Imisipha yangaphandle engaphezulu

I-Bharucha-Goebel DX. Ama-dystrophies emisipha. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 627.

UFinkel RS, Mohassel P, uBonnemann CG. Isibeletho sokuzalwa, isitho somzimba namanye ama-dystrophies emisipha. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, abahleli. I-Swaiman's Pediatric Neurology. Umhlaka 6. Elsevier; I-2017: isahluko 147.

UMohassel P, uBonnemann CG. Ama-dystrophies emilenze yebhande. Ku: Darras BT, Jones HR, Ryan MM, DeVivo DC, eds. Ukuphazamiseka kweNeuromuscular Of Childhood, Ubuntwana, Nasebusheni. Okwesibili. I-Waltham, MA: I-Elsevier Academic Press; 2015: isahluko 34.