Oh, kiki ekikyamu ku mwana wange? Manya ku bulwadde bwa Walker-Warburg Syndrome

Nga maama, oteekwa okuwulira ennaku n’okutya otya singa omwana wo omuto azaalibwa n’endabika eyeewuunyisa, nga talina bulamu oba ng’azirika, oba ng’abasawo bagamba nti waliwo obuzibu mu nkula y’amaaso oba obwongo? Oluusi ekivaako kino kiyinza okuba embeera etali ya bulijjo nnyo, naye nga ya maanyi nnyo, ey’obuzaale ebeerawo ng’azaalibwa. Leero tugenda kwogera ku bulwadde obumu obw’engeri eno, Walker-Warburg Syndrome.

Obulwadde bwa Walker-Warburg Syndrome kye ki?

Mu ngeri ennyangu, obulwadde bwa Walker-Warburg Syndrome mbeera ya buzaale ekosa ebinywa mu mubiri gw’omwana wo naddala obwongo n’amaaso. Kibeera mu kibinja ky’endwadde eziyitibwa congenital muscular dystrophies, ezitandikira mu kuzaalibwa oba mu buwere ne zinafuya mpolampola ebinywa okumala ekiseera. Mu butuufu, embeera eno ereeta obubonero obw’obulabe mu baana era ebyembi, ekendeeza ku bulamu bwabwe. Kino kiyinza okukuwulikika ng’ekitiisa naye kikulu okumanya kye kiri.

Obulwadde bwa dystroglycanopathy kye ki? Waliwo akakwate akaliwo?

Oyinza okuba nga wali owuliddeko obulwadde bwa Walker-Warburg Syndrome nga buyitibwa Dystroglycanopathy . Teweeraliikiriranga, nja kukinnyonnyola.

Obulwadde bwa Walker-Warburg syndrome kika kya bulwadde bwa binywa obuzaalibwa nabwo. Muscular dystrophy kibinja kya ndwadde ezikosa ebinywa by’omubiri gw’omwana. Ebika by’obulwadde buno obw’ebinywa ebiwerako biba mu kibinja ky’obulwadde bwa dystroglycanopathies. Kwe kugamba, obuzibu bw’ebinywa obuva ku bulema mu buzaale obukola puloteyina dystroglycan buyitibwa erinnya lino. Obulwadde bwa Walker-Warburg butwalibwa ng’ekika ekisinga okuba eky’amaanyi, oba eky’amaanyi, mu kibinja kino eky’abalwadde ba dystroglycanopathies.

Embeera eno ya bulijjo etya? Ani ayinza okugifuna?

Obulwadde bwa Walker-Warburg Syndrome bulwadde obutatera kulabika nnyo. Mu nsi yonna, kiteeberezebwa nti abaana nga omu ku buli baana 60,500 abaakazaalibwa alina obulwadde buno. Okuva bwe kiri nti kiva ku nkyukakyuka mu buzaale, omuntu yenna asobola okufuna embeera eno. Kino kitegeeza nti amawanga, eddiini n’ebirala tebikwatagana.

Omwana wange asobola okusikira obulwadde buno?

Yee, omwana wo asobola okusikira obulwadde bwa Walker-Warburg Syndrome.Eno y’engeri gye kibaawo: Abazadde bombi bwe baba nga basitula emu ku buzaale obukyusiddwa obuleeta obulwadde bwa Walker-Warburg Syndrome, ekitegeeza nti bombi balina kkopi emu ey’obuzaale obulema, omwana ajja kufuna obulwadde buno singa abazadde bombi bayisa obuzaale obwo eri omwana mu kiseera ky’olubuto. Enkola eno ey’obusika eyitibwa autosomal recessive inheritance.

Teebereza, singa omwana wo asikira kkopi emu yokka ey’obuzaale buno obukyusiddwa okuva ku muzadde omu, omwana tajja kulaga bubonero, naye omwana ajja kuba mutwale w’obulwadde buno. Kino kitegeeza nti abaana b’omwana mu biseera eby’omu maaso bayinza okuba n’akabi akatono ak’okufuna obulwadde buno, singa omuzadde omulala naye aba musitula.

Obulwadde bwa Walker-Warburg Syndrome bukosa butya omubiri gw’omwana wange?

Obulwadde buno okusinga bukosa ebinywa by’omubiri gw’omwana wo. Oyinza okulaba enkyukakyuka mu binywa by’omwana wo amangu ddala ng’amaze okuzaalibwa. Omubiri gw’omwana guyinza okuba nga gufuukuuse nnyo, nga ddole etalina bulamu , kubanga ebinywa birina ebinywa bitono nnyo. Ng’oggyeeko ebinywa, embeera eno era ekosa engeri obwongo n’amaaso g’omwana wo gye bikulamu n’engeri gye bikolamu. Omwana wo ayinza okuba n’obuzibu mu kulaba, okulwawo okukula, n’okukula mu magezi. Abasawo bagezaako okufuga obubonero buno nga bakozesa obujjanjabi ne balemesa omwana okuwangaala.

Bubonero ki obulaga obulwadde bwa Walker-Warburg Syndrome?

Obulwadde bwa Walker-Warburg Syndrome buleeta obubonero obukosa ebinywa by’omwana wo, obwongo n’amaaso. Obuzibu bw’obubonero buno buyinza okwawukana. Zitera okulabibwa nga bazaalibwa oba nga bakyali bato. Obubonero obumu buyinza okutta omuntu.

Obubonero obukwatagana n’ebinywa

Obubonero bw’obulwadde bwa Walker-Warburg syndrome bukosa ebinywa ebikozesebwa okutambula mu mwana.

• Omwana bw'azaalibwa, ziyinza okulabika nga "floppy" nga ddole etalina bulamu olw'ebinywa ebitono (hypotonia) . Kino kizibuwalira omwana okusitula omutwe, emikono n’amagulu.
• Embeera eno ereetera ebinywa by’omwana okunafuwa mpolampola , ekitegeeza nti obubonero bweyongera okumala ekiseera.
• Olw’okuba ebinywa by’omwana tebikola bulungi, kiyinza okuba ekizibu okunywa amata ng’akyali muwere . Ziyinza obutasobola kunuuna oba kumira bulungi.

Obubonero obukwatagana n’obwongo

Obulwadde bwa Walker-Warburg Syndrome bukosa engeri obwongo bw’omwana wo gye bukulamu. Obubonero obuva ku bwongo buyinza okuli:

• Lissencephaly (obwongo obuseeneekerevu) mbeera ng’obwongo bulabika nga bulina ebizimba ku ngulu, nga tebulina bikuta oba bifo bya bulijjo. Mu ngeri endala, obugulumivu bw’obwongo bulabika nga buweweevu.
• Okukuŋŋaanyizibwa kw’amazzi mu bwongo(Hydrocephalus - water head) Kino kiyinza okuvaako omutwe okugaziwa.
• Obutabeera bulungi mu nkula y’ekikolo ky’obwongo n’obwongo oba embeera eyitibwa cerebellar cyst (Dandy-Walker malformation) .
• Seizures , kwe kugamba, embeera eziringa okukonziba.

Embeera zino, ezikosa obwongo bw’omwana wo, ziyinza okuleeta okulwawo okukula n’okusoomoozebwa mu busobozi bw’amagezi .

Obubonero obukwatagana n’amaaso

Obulwadde bwa Walker-Warburg Syndrome buyinza okukosa enkula y’amaaso g’omwana wo n’okuleeta obubonero nga:

• Amaaso amatono (Microphthalmia) oba amaaso amanene (Buphthalmos) .
• Okubeera n’ebire mu maaso, ekitegeeza nti lenzi y’eriiso efuuse enjeru (Cataracts) .
• Okulwawo okutambuza obubaka okuyita mu busimu bw’amaaso obuweereza obubaka okuva mu maaso okutuuka ku bwongo.
• Obuzibu okulaba obulungi (Obuzibu mu kulaba) .

Kiki ekivaako kino? Lwaki kino kigenda mu maaso?

Obulwadde bwa Walker-Warburg Syndrome buva ku nkyukakyuka mu buzaale . Obuzaale obusukka mu kkumi bwe buzuuliddwa obuleeta embeera eno, era wayinza okubaawo obulala obutazuulibwa. Ebimu ku bikulu ebikyukakyuka mu buzaale ebireeta obulwadde buno mu bantu abasukka mu kitundu ku bantu bonna abalina obulwadde bwa Walker-Warburg Syndrome bye bino:

• `POMT1`
• `POMT2`
• `CRPPA` (eyali emanyiddwa nga `ISPD`)
• `FKTN`
• `FKRP`
• `EKIKULU1`
• `POMGNT1`
• `ISPD`
• `GTDC2`
• `DAG1`

Ensengekera zino zitaataaganya enkola y’okugatta molekyu za ssukaali mu puloteyina eyitibwa alpha-dystroglycan , enkola eyitibwa glycosylation . Enkola eno eya glycosylation bw’etabaawo bulungi, ebinywa by’omwana tebisobola kukuuma nsengeka yaabyo mu mubiri. Puloteeni zino era zikwata ku ngeri obutoffaali bw’obusimu mu bwongo gye butambulamu mu kiseera ky’okuzaalibwa, nga kino kye kireeta embeera y’obwongo eyitibwa lissencephaly eyayogeddwako emabegako.

Mu ngeri ennyangu, ebinywa by’omwana alina obulwadde bwa Walker-Warburg Syndrome buli kiseera binywezebwa era ne bisumululwa. Ekiseera bwe kigenda kiyitawo, ebinywa bino byonoonebwa era ne binafuwa ne bituuka ne kiba nti tebikyasobola kukola.

Okugatta ku ekyo, obulwadde bwa Walker-Warburg Syndrome butaataaganya engeri obusimu obuyitibwa neurons gye butambulamu mu bwongo bw’omwana. Mu budde obwa bulijjo, obusimu obuyitibwa neurons bulina okuyimirira nga butuuse gye bugenda. Kyokka, obusimu obukoseddwa era butambula mu mazzi ageetoolodde obwongo bw’omwana. Kino kikwata nnyo ku nkula y’obwongo.

Obulwadde bwa Walker-Warburg Syndrome buzuulibwa butya?

Omusawo wo ayinza okutandika okukebera obulwadde bwa Walker-Warburg Syndrome ng’oli lubuto olusembayo, era okuzuula obulwadde buno bukakasibwa ng’omwana amaze okuzaalibwa.

• Okukebera ‘ultrasound scan’ ng’oli lubuto kisobola okuzuula obubonero naddala obukosa obwongo bw’omwana.
• Oluvannyuma lw’okuzaalibwa omwana, okukebera ebifaananyi nga CT scans ne MRIs kusobola okuwa ekifaananyi ekitegeerekeka obulungi ku bwongo bw’omwana n’okukebera embeera gy’alimu.

Waliwo okukeberebwa okuwerako okukakasa nti omuntu alina obulwadde bwa Walker-Warburg Syndrome:

• Okukebera ebinywa (muscle tissue biopsy) kwe kukebera okulaba oba ebinywa by’omwana biba biramu. Kino kizingiramu okutwala akatundu akatono ak’ekinywa n’akakebera.
• Okukebera omusaayi okukebera omuwendo gwa Creatine Kinase (CK) mu musaayi. CK ye enzyme efuluma mu musaayi ng’ebinywa bimenyese. Emiwendo gya CK egy’amaanyi giraga nti ebinywa byonoonese.
• Okukebera amaaso okukebera obubonero bw’obulwadde bwa Walker-Warburg Syndrome mu maaso g’omwana.
• Okukebera omusaayi gw’obuzaale okuzuula obuzaale obukyusiddwa obuleeta obubonero.

Bujjanjabi ki obukolebwa ku kino?

Ebyembi, tewali ddagala eriwonya obulwadde bwa Walker-Warburg Syndrome. N’olwekyo, obujjanjabi okusinga bugenderera kumalawo bubonero. Enkola z’obujjanjabi ziyinza okwawukana ku buli mwana azuuliddwa ng’alina obulwadde buno, okusinziira ku mbeera y’omwana. Enkola z’obujjanjabi ziyinza okuli:

• Okulongoosa okuggya amazzi agasukkiridde mu bwongo (hydrocephalus).
• Okuwa eddagala okuziyiza okukonziba.
• Obujjanjabi bw’omubiri okutumbula amaanyi g’ebinywa.
• Bw’oba ​​olina obuzibu mu kulya, okuyingizaamu ekyuma ekikuliisa kiyinza okukuyamba.

Ekigendererwa ky’okujjanjaba obulwadde bwa Walker-Warburg Syndrome kwe kutangira obubonero obuyinza okutta obulamu n’okuyamba okwongera ku bulamu bw’omwana.

Waliwo engeri y’okuziyizaamu obulwadde bwa Walker-Warburg Syndrome?

Obulwadde bwa Walker-Warburg Syndrome bulwadde bwa buzaale, n’olwekyo tewali ngeri yonna gye tuyinza kubuziyiza. Bw’oba ​​oteekateeka okufuna olubuto era ng’oyagala okumanya akabi k’olina okuzaala omwana alina embeera y’obuzaale, kirungi okwogera n’omusawo wo ku kukebera obuzaale oba okubudaabudibwa ku buzaale .

Omwana wange bw’aba alina obulwadde buno, nsuubira ki?

Obulwadde bwa Walker-Warburg Syndrome bulwadde obugenda bweyongera. Kino kitegeeza nti obubonero buno buyinza okuba nga butono mu kusooka, naye ekiseera bwe kigenda kiyitawo bweyongera. Kino kiyinza okuwulikika nga kya nnaku nnyo, naye abalongo abalina embeera eno batera okuba n’obulamu obutono , emirundi mingi okutuusa mu buto bwokka. Omusawo w’omwana wo ajja kukuwa obujjanjabi okutangira obubonero obuyinza okumutta n’okuwangaaza obulamu bw’omwana wo. Jjukira nti tewali ddagala eriwonya bulwadde buno.

Nga omwana wo azuuliddwa, kikulu okwerabirira. Kiyinza okukuyamba ggwe n’ab’omu maka go okwogera n’omubuulirizi w’obuzaale okukuyamba okutegeera n’okugumira embeera omwana wo gy’azudde n’engeri gy’ayinza obujjanjabi. Omukugu mu by’obulamu bw’obwongo naye asobola okukuyamba okwetegekera n’okugumira okufiirwa okw’amangu okujja ng’omwana wo azuuliddwa. Ebibiina by‟okufiirwa n‟okuwagira bisobola okubudaabuda ennyo amaka mu biseera bino ebizibu.

Omwana wange mmutwale ddi ew’omusawo?

Omwana wo bw’alaga obubonero bw’obulwadde bwa Walker-Warburg Syndrome naddala obutasobola kulya , kuba essimu y’omusawo w’omwana wo amangu ago. Ate era, tegeeza omusawo wo singa obubonero bw’omwana wo budda mu bwangu oba bweyongera okusajjuka , ne bwe kiba nti obujjanjabi buba buwanguzi okumalawo obubonero.

Omwana wo ali mu bulabe bw'okukonziba . Bw’olaba omwana wo ng’azirika okumala akaseera, ng’akankana oba ng’atambula nga tafuddeeyo, oba ng’alabika ng’asobeddwa, ng’atidde oba nga tateredde, genda mu kisenge ky’abalwadde ab’amangu mu ddwaaliro mu bwangu.

Bibuuzo ki bye nnina okubuuza omusawo w’omwana wange?

Oyinza okuba n’ebibuuzo bingi mu kiseera kino ekizibu. Gezaako okubuuza omusawo w’omwana wo ebibuuzo bino:

• Omwana wange yeetaaga okulongoosebwa?
• Biki ebiva mu bujjanjabi obwo?
• Nkole ntya singa omwana wange afuna obulwadde bw’okukonziba?
• Mirundi emeka gye nnina okuleeta omwana wange okwekebejjebwa obulamu obulungi?

Okuzuula nti omwana wo omuwere alina embeera y’obuzaale ejja okumulemesa okubeera n’obulamu obujjuvu kiyinza okuba ekizibu ennyo. Olw’okuzuula kuno okusoomoozebwa, omusawo wo ajja kukuwa obujjanjabi okutangira obubonero obuyinza okutta obulamu n’okwongezaayo obulamu bw’omwana wo. Okuzuula omwana wo kuyinza okukukwatako ennyo n’ab’omu maka go, n’olwekyo kakasa nti ofuna obuyambi bwe weetaaga. Abantu bangi basanga okubudaabudibwa ku buzaale nga kiyamba okumanya ebisingawo ku ngeri y’okulabirira omwana waabwe. Omukugu mu by’obulamu bw’obwongo asobola okukuyamba okuddukanya situleesi, okwetegekera n’okugumira okufiirwa kw’otosuubira. Bw’oba ​​weetaaga obuyambi, yogerako n’omusawo wo era oyambibwe.

Mu bufunze: Obubaka bw’okutwala awaka

• Walker-Warburg Syndrome bulwadde bwa buzaale obutatera kulabika naye nga bwa maanyi nnyo.
• Kino okusinga kikosa ebinywa by’omwana, obwongo, n’amaaso .
• Obubonero buno mulimu okunafuwa kw’ebinywa (omwana akola floppy), obwongo obutakola bulungi (lissencephaly, hydrocephalus), okusannyalala, n’okufuna obuzibu mu maaso .
• Kino kiva ku buzibu bw'obuzaale obusikira abazadde bombi .
• Wadde nga tewali ddagala, waliwo obujjanjabi obufuga obubonero n’okwongera ku bulamu bw’omuntu .
• Kikulu nnyo abazadde n’amaka okusigala nga banywevu mu birowoozo n’okufuna obuwagizi obwetaagisa mu kiseera ekizibu ng’ekyo. Okubuulirira ku buzaale n‟okuwagira obulamu bw‟obwongo bijja kuyamba mu kino.

Nsuubira nti amawulire gano gakuyambye okufuna okutegeera okutono ku mbeera eno etali ya bulijjo. Jjukira nti toli wekka, era abasawo n’ababuulirira abantu beetegefu okukuyamba.

` Walker-Warburg syndrome, endwadde z’obuzaale, obunafu bw’ebinywa, obutakola bulungi mu bwongo, endwadde z’amaaso, congenital muscular dystrophy, obulamu bw’abaana