I-Neurodegenerative Disorder
I-MELAS syndrome (i-mitochondrial myopathy, i-encephalopathy, i-lactic acidosis, kunye ne-stroke) yintlupheko eyenza i-neurodeergenerative disorder eyenziwa yimitshintsho kwi-DNA yemitochondrial. I-Mitochondria yimizimba ngaphakathi kweeseli zethu ezona zixanduva lokuvelisa amandla amaseli afuna ukwenza umsebenzi wawo. I-Mitochondria ine-DNA yayo, ehlala izuzwe ngumama.
Nangona kunjalo, i-MELAS syndrome ayidla ilifa; ukuguqulwa kwezi zifo ngokuqhelekileyo kwenzeka ngokukhawuleza.
Ngenxa yokuba isifo asiyazi kakuhle kwaye sinokuba nzima ukuyixilonga, akusaziwa ukuba bangaphi abantu abaye bahlakulela iMELAS kwihlabathi lonke. Isifo sichaphazela onke amaqela kunye namabini namabhinqa.
Abantu abachaphazelekayo baqala ukubonisa iimpawu phakathi kweminyaka engama-4 no-40. isifo sidla ngokubulala. Akukho nonyango ye-MELAS syndrome; Unonophelo lwempilo luxhaswa kakhulu.
Iimpawu
Ngenxa yokuba i-mitochondria ephosakeleyo ikhona kuzo zonke iiseli zezigulane ezine-MELAS syndrome, iintlobo ezininzi zeempawu ziyakhula, ezihlala zikhubaza. Izibetho zenza umonakalo wengqondo, okukhokelela ekuthinjeni , ukuphazamiseka, okanye ukukhubazeka ngokwengxenye. I-encephalopathy (isifo sengqondo) ibangele ukuthungca, ukuxhaphazwa kwemisipha, ukungaboni, ukungazithulu, kwaye kunokukhokelela ekudemeni kwengqondo. I-Myopathy (isifo se-muscle) yenza ukuba kunzima ukuhamba, ukuhamba, ukutya, nokuthetha.
Ukuxilongwa
Kwimininzi yabantu abane-MELAS syndrome, i-stroke, okanye iimpawu ezifana neentloko, ukuhlanza, okanye ukutshatyalaliswa, yinkcazelo yokuqala yokuba into engalunganga. Isiqhelo sokuqala kwesibetho sivela ebuntwaneni phakathi kweminyaka engama-4 kunye ne-15, kodwa inokwenzeka kwiintsana okanye kubantu abadala.
Ngaphambi kokubethelwa kokuqala, umntwana anganciphisa ukukhula nokukhula, abe nokukhubazeka kokufunda okanye ukuphazamiseka kwengxaki.
Uvavanyo lunokujonga isantya se-lactic acid egazini kunye ne- cerebrospinal fluid . Iimvavanyo zegazi zingabhekisisa i-enzyme (creatine kinase) ekhoyo kwisifo se-muscle. Isampuli ye-muscle (i-biopsy) ingavavanywa kwi-MELAS yesona esona sahlukileyo. Izifundo zobomi beBongo, ezifana ne-tomography (CT scan) okanye i-imagination magnetic resonance (MRI), inokukhangela iimpawu zomonakalo wengqondo ukusuka kwintlungu.
Unyango
Ngelishwa, akukabikho unyango lokumisa umonakalo owenziwe yi-MELAS syndrome, kwaye iziphumo kubantu abane-syndrome zihlala zihluphekile. Uqeqesho oluthathatyathelweyo olunokuthi luncede ukuphucula ukunyamezela kwabantu abane-myopathy. Iimpawu zonyango, kuquka nezongezelelo zokutya, zibonise inzuzo kwabanye abantu. Ezi zonyango ziquka i-coenzyme Q10, i-phylloquinone, i-menadione, i-ascorbate, i-riboflavin, i-nicotinamide, i-creatine monohydrate, idebenone, i-succinate, ne-dichloroacetate. Ingaba ezi zinto ziza kunceda bonke abantu abane-MELAS syndrome basacingwa.
Imithombo:
Scaglia, F. (2002). I-MELAS syndrome. eMedicine.
Kaufmann P, Engelstad K, Wei Y, et al. Imbali yendalo ye-MELAS ehambelana ne-DNA mitochondrial m.3243A> G genotype. Neurology 2011; 77: 1965.