I-Neurodegenerative Disorder
I-MELAS syndrome (i-mitochondrial myopathy, i-encephalopathy, i-lactic acidosis, kanye nesifo sohlangothi) yisifo esiqhubekayo se-neurodegenerative esibangelwa ukushintshashintsha kwe-DNA mitochondrial. I-Mitochondria yizinhlaka ngaphakathi kwamangqamuzana ethu aphethwe kakhulu ekukhiqizeni amandla amaseli adinga ukwenza umsebenzi wawo. I-Mitochondria ine-DNA yawo, ehlale izuzwe ifa kumama.
Noma kunjalo, i-MELAS syndrome ngokuvamile ayizuze ifa; ukuguqulwa kwesifo kulezi zifo ngokuvamile kwenzeka ngokuzenzekelayo.
Ngenxa yokuthi lesi sifo asikwazi kahle futhi singase sibe nzima ukuyihlolisisa, akukaziwa ukuthi bangaki abantu abaye bathuthukisa i-MELAS emhlabeni wonke. Isifo sithinta wonke amaqembu ezizwe kanye nabesilisa nabesifazane.
Abantu abathintekayo baqala ukubonisa izimpawu eziphakathi kweminyaka engu-4 no-40. isifo ngokuvamile siyabulala. Akukho ukwelashwa kwe-MELAS syndrome; ukunakekelwa kwezokwelapha kuncike kakhulu ekusekeleni.
Izimpawu
Ngenxa yokuthi i-mitochondria enesici ikhona kuwo wonke amaseli weziguli ezine-MELAS syndrome, izinhlobo eziningi zezimpawu zingathuthuka, okuvame ukulimaza. Izigubhu zidala ukulimala kobuchopho, okuholela ekuqothukeni , ekuguleni, noma ekukhubazekeni okuncane. I-encephalopathy (isifo sobuchopho) ibangela ukuthuthumela, ukuphazamiseka kwemisipha, ukuphuphuthekisa, ukungazithulu, futhi kungabangela ukuwohloka komqondo. I-myopathy (isifo sofuba) kubangela ubunzima ukuhamba, ukuhamba, ukudla, nokukhuluma.
Ukuxilongwa
Kubantu abaningi abane-MELAS syndrome, isifo sohlangothi, noma izimpawu ezifana nokukhanda ikhanda, ukuhlanza noma ukuwa, kuyisici sokuqala sokuthi kukhona okungalungile. Isiqephu sokuqala sengozi ngokuvamile sivela ebuntwaneni phakathi kweminyaka engama-4 no-15, kodwa kungenzeka ezinganeni noma kubantu abadala.
Ngaphambi kokushaywa ngukuqala, ingane ingase iphuze ukukhula nokuthuthukisa, ibe nokukhubazeka kokufunda noma ukukhathazeka kokulahleka kokukhathazeka.
Izivivinyo zingabheka izinga le-lactic acid egazini nase- cerebrospinal fluid . Ukuhlolwa kwegazi kungabheka i-enzyme (creatine kinase) ekhona kwisifo se-muscle. Isampuli yama-muscle (i-biopsy) ingahlolelwa isethulo esivame kakhulu sezakhi zofuzo ku-MELAS. Ucwaningo lwe-Brain imaging, olufana ne-computed tomography (CT scan) noma i-imagery magnetic resonance (MRI), lingabheka izibonakaliso zokulimala komqondo kusuka ku-stroke.
Ukwelapha
Ngeshwa, kusakabi khona ukwelashwa ukuvimbela umonakalo owenziwe yi-MELAS syndrome, futhi umphumela wabantu abane-syndrome uvame ukuhlupheka. Ukuqeqeshwa okulinganiselwe kokuhamba ngezinyawo kungasiza ukuthuthukisa ukukhuthazela kwabantu abane-myopathy. Imithi yokwelapha, okubandakanya izithako zokudla, ibonise izinzuzo kwabanye abantu. Lezi zokwelapha zihlanganisa coenzyme Q10, phylloquinone, menadione, ascorbate, riboflavin, nicotinamide, creaton monohydrate, idebenone, succinate, ne-dichloroacetate. Kungakhathaliseki ukuthi lezi zengezo zizosiza bonke abantu abane-MELAS syndrome kusacwaningwa.
Imithombo:
Scaglia, F. (2002). I-MELAS syndrome. eMedicine.
Kaufmann P, Engelstad K, Wei Y, et al. Umlando wemvelo we-MELAS ohlotshaniswa ne-DNA mitochondrial m.3243A> G genotype. I-Neurology 2011; 77: 1965.