Ingabe ingane yakho inalezi zimpawu? Ake sixoxe ngesifo i-Pelizaeus-Merzbacher (PMD)!

Wake wezwa ngesifo i-Pelisseus-Merzbacher, noma i-PMD ngamafuphi? Kungenzeka ukuthi uqaphele ukuthi ingane yakho inokukhubazeka kokukhula, ubunzima bokuhamba, noma ezinye izimpawu ezingavamile, futhi ungase ukhathazeke. Empeleni lesi yisimo esingavamile kakhulu. Lokho kusho ukuthi akuyona into abantu abaningi abayitholayo. Kodwa kubalulekile ukuqaphela, ikakhulukazi uma othile emndenini wakho eye waba nalezi zinkinga.

Siyini isifo i-Pelisseus-Merzbacher (PMD)? Masiqonde kalula!

Kalula nje, i-Pelizaeus-Merzbacher Disease (PMD) yisimo esingavamile esivame ukuba yizakhi zofuzo , okusho ukuthi singadluliselwa kusuka esizukulwaneni kuya kwesinye, esithinta ubuchopho bakho kanye nomgogodla (umthambo oyinhloko ohamba phansi komgogodla wakho). Ngokuyinhloko sibangela izinkinga ngokunyakaza, njengokuhamba, ukugijima, nokugxuma, kanye nokusebenza kwemisipha.

Cabanga ngakho njengezintambo zikagesi emizimbeni yethu. Lezi zintambo yilapho imiyalezo evela ebuchosheni bethu ihamba khona emizimbeni yethu. Ku-PMD, isembozo sokuvikela esizungeze lezo zinzwa ezibizwa ngokuthi i-myelin asikhuli ngokwanele. I-Myelin ifana nesigxobo sepulasitiki esisentambo kagesi. Yilokho okuvumela imiyalezo yezinzwa ukuthi ihambe ngokushesha nangokunembile. Ngakho-ke uma lesi sigxobo se-myelin sincishisiwe, kuba nezinkinga ngokudluliswa kwemiyalezo yezinzwa.

Abanye abantu abane-PMD bangase babe nokulibaziseka kokukhula, okusho ukuthi bangase bephuze ukufunda, ukukhuluma, noma ukuhamba, njengoba kufanele iminyaka yabo. I-PMD iyisifo esiqhubekayo . Lokhu kusho ukuthi izimpawu zingase zibe zimbi kakhulu ngokuhamba kwesikhathi.

Lesi sifo sithinta kanjani imizimba yethu? (Kuyini i-leukodystrophy?)

I-PMD yisifo sofuzo esiyingxenye yeqembu lezifo ezibizwa ngokuthi i-leukodystrophies . Lezi zifo zithinta into emhlophe yesimiso sethu sezinzwa. Le nto emhlophe yilapho kutholakala khona imicu yezinzwa embozwe yi-myelin. Ngakho-ke ku-PMD, umzimba wethu awukhiqizi i-myelin eyanele, okulimaza le nto emhlophe. Yingakho imiyalezo evela ebuchosheni iya kuwo wonke umzimba ingahambi kahle.

Cabanga nje, uma umuntu ophethe umyalezo engalandeli indlela efanele, umyalezo ungabhajwa endleleni, noma uye endaweni engafanele, akunjalo? Yilokho okwenzekayo ohlelweni lwethu lwezinzwa lapho i-myelin ilahleka.

Ubani okungenzeka kakhulu ukuthi athole i-PMD?

I-PMD ithinta kakhulu abafana nabesilisa . Lokhu kungenxa yokuthi iyisifo sofuzo esixhumene no-X . Lokhu kusho ukuthi ukuguquka kwezakhi zofuzo okubangela lesi sifo ku-chromosome X. Njengoba wazi, abesifazane banama-chromosome amabili angu-X, kuyilapho abesilisa bene-chromosome eyodwa engu-X kanye ne-chromosome eyodwa engu-Y.

Ngakho-ke, noma ngabe owesifazane unalolu guquko lwezakhi zofuzo kwi-chromosome eyodwa ye-X, izimpawu zingase zingabi zimbi kangako ngenxa ye-chromosome enye ye-X enempilo. Lesi sifo singase singabi nhlobo. Kodwa uma indoda inalolu guquko kwi-chromosome yayo ye-X kuphela, ingozi yokuthola lesi sifo iphakeme.

Yiziphi izinhlobo eziyinhloko zesifo iPelissaeus-Merzbacher?

Kunezinhlobo ezimbili eziyinhloko zesifo i-Pelisseus-Merzbacher:

1. Isifo se-Classic Pelizaeus-Merzbacher

Lolu uhlobo oluvame kakhulu . Izimpawu zivame ukuqala phakathi nonyaka wokuqala wokuphila kwengane . I-PMD ejwayelekile ibangela izinkinga ngemisipha nokunyakaza. Isibonelo, ingane ingase ibe nokuxhuga, yephuze ukuhamba, noma ibe nobunzima bokugcina ibhalansi.

Amakhono obuhlakani abantu abanale PMD yakudala, okungukuthi, ikhono lokufunda nokukhumbula, ngokuvamile akhula kahle kuze kube yilapho esemusha. Kodwa-ke lokho kuthuthukiswa kungase kume. Ngemva kokusha, kungase kube nokwehla kancane kancane kwamakhono obuhlakani.

2. Isifo se-Connatal Pelizaeus-Merzbacher

Lolu hlobo luyivelakancane kakhulu futhi lunzima kakhulu . Kulolu hlobo, izimpawu ezifana nezinkinga ezinkulu zokunyakaza, ukubambezeleka kokukhula, izinkinga zokudla, kanye nokuxhuzula kungabonakala ebuntwaneni, zingakapheli izinyanga ezimbalwa zokuzalwa.

Izingane ezizalwa nazo ezine-PMD ngokuvamile azifundi ukuhamba . Futhi, eziningi zinobunzima bokukhuluma. Kodwa-ke, ziyakwazi ukuqonda lokho abanye abakushoyo. Lesi yisimo esibi kakhulu.

Sivame kangakanani lesi sifo esibizwa ngokuthi i-PMD?

Njengoba kushiwo ngaphambili, isifo iPelizaeus-Merzbacher siyisifo esingavamile kakhulu . Ngokusho kochwepheshe ezweni elinjenge-United States, cishe oyedwa kwabesilisa abangu-200,000 unesifo lesi. Lokhu kuncane kakhulu kwabesifazane. Nakuba kunzima ukuthola izibalo ezinembile ngalesi sifo eSri Lanka, sibhekwa njengesifo esingavamile emhlabeni.

Ziyini izimpawu ze-PMD?

Izimpawu zesifo iPelisseus-Merzbacher zingahluka kuye ngomuntu, kodwa kunezinye izimpawu ezivamile:

• Izinkinga zokulinganisela: Ukungakwazi ukugcina ibhalansi efanele ngenkathi uhamba noma umile.
• Ukulibaziseka kokukhula: Ukulibaziseka ekukhulumeni, ekuhambeni nasekudlaleni ngokweminyaka.
• Izinkinga zokudla: Ubunzima bokuncela noma ukugwinya ukudla. Lokhu kungaholela nasekunciphiseni isisindo.
• I-Stridor: Umsindo omkhulu ngendlela engavamile lapho uphefumula.
• Ukunyakaza kwamehlo okuzenzakalelayo (i-nystagmus): Ukunyakaza kwamehlo okusheshayo, okuqhubekayo, okungalawulwayo emuva naphambili noma phezulu naphansi.
• Ukuthuthumela noma ukugxumagxuma komzimba okungahleliwe (i-dystonia): Ukufinyela kwemisipha okungalawulwa noma ukugxumagxuma kwezingxenye zomzimba.
• Ukukhuluphala okuncane: Ukwehluleka ukukhuluphala ngendlela efanele ngokweminyaka.
• Ubuthakathaka bemisipha (hypotonia): Umuzwa wobuthakathaka, ukuntuleka kwethoni yemisipha.

Uma ingane yakho inesinye salezi zimpawu noma ngaphezulu, kubaluleke kakhulu ukuthola iseluleko sezokwelapha ngokushesha .

Yini ebangela i-PMD?

Isifo se-Pelisseus-Merzbacher sivame ukubangelwa ukuguquka kwezakhi zofuzo ze-PLP1 . Lokhu kuguquka kungenziwa njengefa kumzali oyedwa noma bobabili.

Kodwa-ke, cishe ku-20% wabafana abane-PMD, ukuguqulwa kwezakhi zofuzo ze-PLP1 akutholakalanga. Abanye babo bangase babe nokuguqulwa kwezakhi zofuzo ze-GJC2 . Abanye bangase babe ne-PMD ngaphandle kwesizathu esicacile. Lezi yizinkinga zokwelapha.

Itholakala kanjani i-PMD?

Udokotela wengane yakho angase asole i-PMD ngokusekelwe ezimpawini zayo. Angase acele ukuhlolwa okuningana ukuqinisekisa ukusola:

• Ukuhlolwa kwezithombe: Kulokhu, i-MRI scan iyona ebaluleke kakhulu. Lokhu kungasetshenziswa ukubona ukuthi kukhona yini ukuntuleka kwe-myelin ebuchosheni bomntwana kanye nasemgogodleni. Kufana nokuthatha isithombe.
• Ukuhlolwa kofuzo: Lokhu kuhlolwa, okubandakanya ukuthatha isampula yegazi, kunganquma ukuthi kukhona yini ukuguquka kofuzo okubangela i-PMD. Lena yindlela kuphela yokuqinisekisa lesi sifo ngokuqinisekile.

Yiziphi izindlela zokwelapha i-PMD?

Ngeshwa, alikho ikhambi lesifo iPelisseau-Merzbacher okwamanje . Kodwa-ke, lokho akusho ukuthi akukho esingakwenza. Umgomo oyinhloko wokwelashwa ukuthuthukisa ikhwalithi yokuphila kwesiguli nokulawula izimpawu .

Kunezindlela eziningana zokwelapha ezingasetshenziswa kulokhu:

• Imithi: Imithi inganikezwa ukunciphisa ukuqaqamba kwemisipha kanye nokuxhuzula.
• Ukwelashwa ngokomzimba noma ukwelashwa ngokomsebenzi: Lokhu kusiza ekuthuthukiseni ibhalansi yengane, amandla, kanye nokulawula ukunyakaza komzimba. Ngokukhethekile, kuyiqeqesha ukuhamba, ukudlala, nokwenza izinto ngokwayo.
• Ukwelashwa kwamehlo: Ukunyakaza kwamehlo okwenziwa ngokungazikhetheli okukhulunywe ngakho ngaphambili (i-nystagmus) kungelashwa ngezibuko noma, kwezinye izimo, ukuhlinzwa.
• Ukwelulekwa: Umeluleki Wezempilo Yengqondo OnelayisensiKubaluleke kakhulu ukuthola iseluleko kudokotela. Lesi seluleko sizokusiza ukuthi ubhekane nokucindezeleka nokukhathazeka okuhambisana nesifo sofuzo esifana nalesi, futhi sikusize ukuthi ubhekane naso ngendlela enempilo. Lokhu kubaluleke kakhulu enganeni nakubazali.

Iyini i-prognosis ye-PMD?

Ukubikezela kwe-PMD, okungukuthi, ukuthi lesi sifo sizokuthinta kangakanani nokuthi uzophila isikhathi esingakanani, kuncike ebunzimeni bezimpawu zakho . Abantu abanezimpawu ezinzima banamathuba amaningi okuba nesifo esibi kakhulu kanye nokuphila isikhathi esifushane.

Kodwa-ke, abanye abantu bangase bangabi nezimpawu ezinzima kangako. Bangase baphile impilo evamile futhi bangabi nomthelela omkhulu emisebenzini yabo yansuku zonke. Udokotela noma umhlengikazi wakho angakusiza uqonde ukuthi i-PMD ingakuthinta kanjani wena noma ingane yakho. Ungalokothi ulahle ithemba.

Ingabe ikhona indlela yokuvimbela i-PMD?

Ngeshwa, ayikho indlela yokuvimbela isifo iPelisseus-Merzbacher ngoba yisimo sofuzo.

Kodwa-ke, uma une-PMD, noma uma ucabanga ukuthi ungase ube ngumthwali walesi sifo (okungukuthi, uma othile emndenini wakho enalesi sifo), ungase uthande ukucabangela ukuhlolwa kofuzo .

Ukuhlolwa kwezakhi zofuzo kunganquma ukuthi une-gene mutation ebangela i-PMD. Ungakhuluma nomeluleki wezakhi zofuzo ukuze uqonde imiphumela yokuhlolwa futhi uthole ukuthi iyini ingozi yakho yokuthi izingane zakho zizuze lesi simo njengefa. Lokhu kungaba usizo kakhulu ekuhleleni ikusasa.

Imibuzo okufanele uyibuze udokotela wakho

Uma wena noma ingane yakho ninesifo i-Pelisseus-Merzbacher, noma uma nisisola, ningabuza udokotela wenu le mibuzo:

• Yini imbangela engaba khona kakhulu yokuthi mina/ingane yami sibe nesifo i-Pelisseus-Merzbacher?
• Yiziphi izivivinyo ezisetshenziswa ukuxilonga isifo iPelisseus-Merzbacher?
• Yiziphi izindlela zokwelapha isifo iPelissaeus-Merzbacher? Yikuphi ukwelashwa okungcono kakhulu enganeni/kimi?
• Angakanani amathuba okuba izingane zami zizuze kimi isifo iPelisseus-Merzbacher?

Ngaphezu kwale mibuzo, khuluma nodokotela wakho nganoma yini oyicabangayo, noma yikuphi ukwesaba noma ukungabaza onakho. Ungagcini lutho lufihliwe engqondweni yakho.

Okokugcina, into ebaluleke kakhulu okufanele uyikhumbule (Umyalezo Wokuya Ekhaya)

Kuvamile ukuzizwa ushaqekile futhi udabuke lapho uthola ukuthi ingane yakho inesifo iPeliseus-Merzbacher. Kwenzeka kuwo wonke umuntu. Khumbula, awuwedwa .

Ukwelashwa kwe-PMD kuyahlukahluka kuye ngohlobo lwesifo kanye nobukhali bezimpawu. Abanye abantu abane-PMD banezimpawu ezincane, ngakho-ke amakhono abo noma isikhathi sabo sokuphila asithinteki kakhulu.

Sebenzisana nodokotela wakho ukuze wakhe uhlelo lokwelapha olusebenzela wena nomndeni wakho.Ngolwazi olufanele, ukwesekwa, nothando, ungabhekana nale nselele. Zama njalo ukucabanga ngendlela eyakhayo.

Isifo sikaPelisseus -Merzbacher, i-PMD, izifo zofuzo, i-myelin, isimiso sezinzwa, izingane, ukubambezeleka kokukhula