Ngaba umntwana wakho unazo ezi mpawu? Masithethe ngeSifo sePelizaeus-Merzbacher (PMD)!

Ngaba wakha weva ngesifo iPelisseus-Merzbacher, okanye iPMD ngamafutshane? Usenokuba uqaphele ukuba umntwana wakho omncinci unengxaki yokukhula, ubunzima bokuhamba, okanye ezinye iimpawu ezingaqhelekanga, kwaye usenokuba nexhala. Esi sisifo esingaqhelekanga kakhulu. Oko kuthetha ukuba asiyonto abantu abaninzi abayifumanayo. Kodwa kubalulekile ukuba uqaphele, ingakumbi ukuba kukho umntu kusapho lwakho oye waba nezi ngxaki.

Yintoni isifo iPelisseus-Merzbacher (PMD)? Masiqonde ngokulula!

Ngamafutshane, iPelizaeus-Merzbacher Disease (PMD) yimeko engaqhelekanga edla ngokuba yimfuza , oko kuthetha ukuba inokudluliselwa kwizizukulwana ngezizukulwana, echaphazela ingqondo yakho kunye nomqolo (umthambo oyintloko ohamba umqolo wakho). Ibangela iingxaki ngokuhamba, njengokuhamba, ukubaleka, nokutsiba, kunye nokusebenza kwemisipha.

Cinga nje ngokuba imithambo-luvo esemzimbeni wethu ifana neentambo zombane. Ezi ntambo kulapho imiyalezo evela kwingqondo yethu ihamba khona emzimbeni wethu. Kwi-PMD, isigqubuthelo esikhuselayo esijikeleze ezo mithambo-luvo zibizwa ngokuba yi-myelin asiphuhli ngokwaneleyo. I-Myelin ifana nesigqubuthelo seplastiki esikwintambo yombane. Yiyo evumela imiyalezo yemithambo-luvo ukuba ihambe ngokukhawuleza nangokuchanekileyo. Ngoko ke xa esi sigqubuthelo se-myelin sinciphile, kukho iingxaki zokudluliselwa kwemiyalezo yemithambo-luvo.

Abanye abantu abane-PMD banokufumana ukulibaziseka kokukhula, nto leyo ethetha ukuba banokufika kade ekufundeni, ekuthetheni, okanye ekuhambeni, njengoko kufanelekile ngokweminyaka yabo. I-PMD sisifo esiqhubekekayo . Oku kuthetha ukuba iimpawu zinokuba mandundu ngokuhamba kwexesha.

Esi sifo siwuchaphazela njani umzimba wethu? (Yintoni i-leukodystrophy?)

I-PMD sisifo semfuza esikwiqela lezifo ezibizwa ngokuba yi -leukodystrophies . Ezi zifo zichaphazela ulwelo olumhlophe lwenkqubo yethu yemithambo-luvo. Lo lwelo lumhlophe kulapho kukho khona imicu yemithambo-luvo egqunywe yi-myelin. Ngoko ke kwi-PMD, umzimba wethu awuvelisi i-myelin eyaneleyo, ngoko ke lo lwelo lumhlophe lonakele. Yingakho imiyalezo evela ebuchotsheni iye kuwo wonke umzimba ingahambi kakuhle.

Khawucinge nje, ukuba umntu ophethe umyalezo akalandeli indlela elungileyo, umyalezo unokubhajwa endleleni, okanye uphelele kwindawo engafanelekanga, akunjalo? Yiloo nto eyenzekayo kwinkqubo yethu yemithambo-luvo xa i-myelin ilahlekile.

Ngubani onokuthi abe ne-PMD?

I-PMD ichaphazela kakhulu abafana namadoda . Oku kungenxa yokuba sisifo semfuza esidityaniswe ne-X . Oku kuthetha ukuba utshintsho olubangela esi sifo lukwi-chromosome ye-X. Njengoko usazi, abasetyhini bane-chromosome ezimbini ze-X, ngelixa abesilisa bene-chromosome enye ye-X kunye ne-chromosome enye ye-Y.

Ngoko ke, nokuba umfazi une-genetic change kwi-chromosome enye ye-X, iimpawu zisenokungabi nzima kangako ngenxa ye-chromosome enye ye-X ephilileyo. Esi sifo sisenokungaphuhli konke konke. Kodwa ukuba indoda ine-X change kwi-chromosome yayo ye-X kuphela, umngcipheko wokufumana esi sifo uphezulu.

Ziziphi iintlobo eziphambili zesifo iPelissaeus-Merzbacher?

Kukho iintlobo ezimbini eziphambili zesifo iPelisseus-Merzbacher:

1. Isifo seClassic Pelizaeus-Merzbacher

Olu lolona hlobo luqhelekileyo . Iimpawu zihlala ziqala kunyaka wokuqala wobomi bomntwana . I-PMD eqhelekileyo ibangela iingxaki kwizihlunu kunye nokuhamba. Umzekelo, umntwana unokuba nokuqhwalela, acothe ukuhamba, okanye abe nobunzima bokugcina ibhalansi.

Izakhono zengqondo zabantu abane-PMD yakudala, oko kukuthi, ukukwazi ukufunda nokukhumbula, zihlala zikhula kakuhle de kube lixesha lokufikisa. Kodwa ke olo phuhliso lunokuphela. Emva kwexesha lokufikisa, kusenokubakho ukwehla kancinci kancinci kwezakhono zengqondo.

2. Isifo sePelizaeus-Merzbacher esibangelwa kukuzalwa

Olu hlobo aluqhelekanga kwaye lunzima ngakumbi . Kolu hlobo, iimpawu ezifana neengxaki ezinkulu zokuhamba, ukulibaziseka kokukhula, iingxaki zokutya, kunye nokuxhuzula zinokubonakala ebuntwaneni, kwiinyanga ezimbalwa emva kokuzalwa.

Abantwana abazalwa bene-PMD abaqhelekanga ukufunda ukuhamba . Kwakhona, abaninzi banobunzima bokuthetha. Nangona kunjalo, bayakwazi ukuqonda oko kuthethwa ngabanye. Le yimeko engathandekiyo kakhulu.

Ixhaphake kangakanani le sifo ibizwa ngokuba yi-PMD?

Njengoko bekutshiwo ngaphambili, isifo iPelizaeus-Merzbacher sisifo esingaqhelekanga . Ngokutsho kweengcali kwilizwe elifana ne-United States, malunga nendoda enye kwi-200,000 enesifo esi. Oku kuncinci nangakumbi phakathi kwabasetyhini. Nangona kunzima ukufumana iinkcukacha-manani ezichanekileyo ngesi sifo eSri Lanka, sithathwa njengesifo esingaqhelekanga kwihlabathi liphela.

Zithini iimpawu ze-PMD?

Iimpawu zesifo iPelisseus-Merzbacher zingahluka kumntu nomntu, kodwa kukho ezinye iimpawu eziqhelekileyo:

• Iingxaki zokulinganisela: Ukungakwazi ukugcina ulungelelwano olufanelekileyo xa uhamba okanye umi.
• Ukulibaziseka kokukhula: Ukulibaziseka ekuthetheni, ekuhambeni nasekudlaleni ngokweminyaka.
• Iingxaki zokutya: Ubunzima bokufunxa okanye ukuginya ukutya. Oku kunokubangela ukwehla kobunzima bomzimba.
• I-Stridor: Isandi esikhulu ngokungaqhelekanga xa uphefumla.
• Iintshukumo zamehlo ezizenzekelayo (nystagmus): Intshukumo yamehlo ekhawulezayo, eqhubekayo, nengalawulekiyo okanye enyuka ehlayo.
• Ukungcangcazela okanye ukuxhuzula umzimba ngokungazikhetheliyo (i-dystonia): Ukuxinana kwemisipha okungalawulekiyo okanye ukuxhuzula kwamalungu omzimba.
• Ukutyeba kakubi: Ukungakwazi ukutyeba ngendlela efanelekileyo ngokweminyaka.
• Ubuthathaka bemisipha (hypotonia): Ukuziva ubuthathaka, ukungabikho kwethoni yemisipha.

Ukuba umntwana wakho unenye okanye ngaphezulu kwezi mpawu, kubaluleke kakhulu ukufuna iingcebiso zonyango ngokukhawuleza .

Yintoni ebangela i-PMD?

Isifo sePelisseus-Merzbacher sidla ngokubangelwa kukuguquka kwezakhi zofuzo ze-PLP1 . Olu tshintsho lunokufunyanwa kumzali omnye okanye bobabini.

Nangona kunjalo, malunga nama-20% abafana abane-PMD, i-PLP1 gene mutation ayifumanekanga. Abanye babo banokuba ne -mutation kwi-GJC2 gene . Abanye banokuba ne-PMD ngaphandle kwesizathu esicacileyo. Ezi ziingxaki zonyango.

Ifunyaniswa njani i-PMD?

Ugqirha womntwana wakho unokurhanela ukuba une-PMD ngokweempawu zakhe. Banokuyalela iimvavanyo ezininzi ukuqinisekisa ukuba kukho into ekrokrelwayo:

• Uvavanyo lokufota: Kwezi, i-MRI scan yeyona ibalulekileyo. Oku kungasetyenziselwa ukubona ukuba akukho myelin engqondweni yomntwana nakwi-spinal cord. Kufana nokuthatha ifoto.
• Uvavanyo lwemfuza: Olu vavanyo, olubandakanya ukuthatha isampuli yegazi, lunokumisela ukuba utshintsho lwemfuza olubangela i-PMD lukhona na. Le yindlela ekuphela kwayo yokuqinisekisa ngokuqinisekileyo ukuba isifo sikhona.

Ziziphi iindlela zonyango ze-PMD?

Ngelishwa, akukho nyango lwesifo sasePelisseau-Merzbacher okwangoku . Nangona kunjalo, oko akuthethi ukuba akukho nto sinokuyenza. Injongo ephambili yonyango kukuphucula umgangatho wobomi besigulana nokulawula iimpawu .

Kukho iindlela ezininzi zonyango ezinokusetyenziswa kule meko:

• Amayeza: Amayeza anokunikwa ukunciphisa ukuqaqamba kwemisipha kunye nokuxhuzula.
• Unyango lomzimba okanye unyango lomsebenzi: Ezi zinto zinceda ekuphuculeni ulungelelwano lomntwana, amandla akhe, kunye nolawulo lomzimba wakhe. Ngokukodwa, zibaqeqesha ukuba bahambe, badlale, kwaye benze izinto ngokwabo.
• Unyango lwamehlo: Iintshukumo zamehlo ezingakhange zikhethwe ngaphambili (i-nystagmus) zinokunyangwa ngeeglasi okanye, kwezinye iimeko, utyando.
• Ingcebiso: Umcebisi Wezempilo Yengqondo OnelayisenisiKubaluleke kakhulu ukufumana ingcebiso kugqirha. Le ngcebiso iza kukunceda ujongane noxinzelelo kunye nokuxhalaba okubangelwa kukuba nesifo esifana nesi, kwaye ikwakunceda ukujongana naso ngendlela esempilweni. Oku kubaluleke kakhulu kumntwana nakubazali.

Ithini ingqikelelo ye-PMD?

Uqikelelo lwe-PMD, oko kukuthi, ukuba esi sifo siza kukuchaphazela kangakanani kwaye uza kuphila ixesha elingakanani, luxhomekeke kubukhali beempawu zakho . Abantu abaneempawu ezinzima banamathuba amaninzi okuba nesifo esibi kakhulu kwaye baphile ubomi obufutshane.

Nangona kunjalo, abanye abantu basenokungabi nazo iimpawu ezinzima kangako. Basenokuphila ubomi obuqhelekileyo kwaye bangabi nampembelelo ingako kwimisebenzi yabo yemihla ngemihla. Ugqirha okanye umongikazi wakho unokukunceda uqonde indlela i-PMD enokukuchaphazela ngayo wena okanye umntwana wakho. Ungaze ulahle ithemba.

Ngaba ikho indlela yokuthintela i-PMD?

Ngelishwa, akukho ndlela yokuthintela isifo iPelisseus-Merzbacher kuba sisifo semfuza.

Nangona kunjalo, ukuba une-PMD, okanye ukuba ucinga ukuba unokuba ngumxhasi wesifo (oko kukuthi, ukuba umntu kusapho lwakho unesi sifo), ungacinga ngovavanyo lwemfuza .

Uvavanyo lwemfuza lunokuqinisekisa ukuba unayo na i-gene mutation ebangela i-PMD. Ungathetha nomcebisi wemfuza ukuze uqonde iziphumo zovavanyo kwaye ufumane ukuba yintoni ingozi yakho yokuba abantwana bakho bafumane esi sifo njengelifa. Oku kunokuba luncedo kakhulu ekucwangciseni ikamva.

Imibuzo omele uyibuze ugqirha wakho

Ukuba wena okanye umntwana wakho unesifo iPelisseus-Merzbacher, okanye ukuba uyasikrokrela, ungabuza ugqirha wakho le mibuzo:

• Yintoni enokubangela ukuba mna/umntwana wam sibe nesifo iPelisseus-Merzbacher?
• Zeziphi iimvavanyo ezisetyenziswayo ukuxilonga isifo iPelisseus-Merzbacher?
• Ziziphi iindlela zonyango zesifo iPelissaeus-Merzbacher? Loluphi unyango olulungele mna/umntwana wam?
• Lingakanani ithuba lokuba abantwana bam bafumane ilifa lesifo iPelisseus-Merzbacher kum?

Ukongeza kule mibuzo, thetha nogqirha wakho ngayo nayiphi na into oyicingayo, naluphi na uloyiko okanye amathandabuzo onawo. Musa ukugcina nantoni na engqondweni yakho.

Okokugqibela, eyona nto ibalulekileyo ekufuneka uyikhumbule (Umyalezo Wokuya Ekhaya)

Kuqhelekile ukuba uzive wothukile kwaye udanile xa ufumanisa ukuba umntwana wakho unesifo iPeliseus-Merzbacher. Senzeka kuye wonke umntu. Khumbula, awuwedwa .

Unyango lwe-PMD luyahluka ngokuxhomekeke kuhlobo lwesifo kunye nobunzima beempawu. Abanye abantu abane-PMD baneempawu ezincinci, ngoko ke amandla abo okanye ubomi babo abuchaphazeleki kakhulu.

Sebenzisana nogqirha wakho ukuze uyile isicwangciso sonyango esilungele wena nosapho lwakho.Ngolwazi olufanelekileyo, inkxaso, nothando, ungajongana nalo mceli mngeni. Zama ukucinga ngendlela eyakhayo ngalo lonke ixesha.

Isifo sePelisseus -Merzbacher, i-PMD, izifo zemfuza, i-myelin, inkqubo yemithambo-luvo, abantwana, ukulibaziseka kophuhliso