Omubiri gwo oba ogw’omwana wo guweweevu? Kyandiba nga ye Nemaline Myopathy?

Oluusi owulira ng’omubiri gwo munafu nnyo, oba omwana wo omuto ebintu abikola luvannyuma katono okusinga abaana abalala, oba alabika ng’abula amaanyi? Ebintu bino bisobola okubaawo olw’ensonga ezitali zimu. Wabula leero tugenda kwogera ku mbeera etali ya bulijjo naye nga nkulu era nga kikulu okukimanya. Eyo mbeera eyitibwa Nemaline Myopathy .

Obulwadde bwa Nemaline Myopathy kye ki?

Mu ngeri ennyangu, Nemaline Myopathy mbeera ekosa ebinywa ebiyamba emibiri gyaffe okutambula (era emanyiddwa nga ebinywa by’amagumba ). Kino kireeta obunafu bw’ebinywa (myopathy) mu bitundu by’omubiri eby’enjawulo. Obubonero buno oluusi busobola okubaawo ng’azaalibwa, oba mu buto, era tebutera nnyo kubaawo mu bukulu. Obunafu buno obw’ebinywa businga kukosa:

• Ku maaso go
• Eri mu bulago
• Okutuuka mu kitundu ky’ekisambi
• Ku bibegabega
• Ku mikono n’amagulu ebya waggulu

Waliwo ekintu ekirala eky’enjawulo ku bulwadde buno obw’emisuwa (nemaline myopathy). Kwe kugamba, bwe twekenneenya ebinywa (tukola biopsy ), tulaba ebintu ebiringa obuwuzi, obutono obulinga omuggo munda mu binywa (kino kiyitibwa emibiri gya nemaline) . Ekigambo ky'Oluyonaani "nema" era kitegeeza "okulinga obuwuzi". Kale bwekityo obulwadde buno bwe bwafuna erinnya. Era kiyitibwa amannya amalala, oyinza okuba nga wakiwuliddeko:

• Obulwadde bw’omuggo obuzaalibwa
• Obulwadde bw’omubiri obuyitibwa Nemaline
• Obulwadde bw’emisuwa gy’omuggo

Abantu abasinga abalina obulwadde bwa nemaline myopathy bazaalibwa n'enkyukakyuka mu buzaale eyasikira bazadde baabwe . Naye, si bulijjo nnyo, embeera eno esobola okubaawo nga tewali byafaayo bya maka, era eyinza okuva ku nkyukakyuka y’obuzaale ey’ekifuulannenge.

Ekikulu kiri nti tewali ddagala lya bulwadde bwa nemaline myopathy. Kyokka waliwo obujjanjabi obw’enjawulo obuyinza okuyamba okufuga obubonero n’okwanguyiza obulamu. Abantu abalina ekika ky’obulwadde bwa nemaline myopathy obusinga okumanyibwa batera okubeera n’obulamu obwa bulijjo, obw’okukola.

Waliwo ebika by’obulwadde bwa Nemaline Myopathy obw’enjawulo?

Yee, waliwo ebika mukaaga ebikulu eby’obulwadde bwa nemaline myopathy. Ekiseera obubonero we butandikira n’obuzibu bw’obulwadde bwawukana okusinziira ku kika. 1. Typical congenital nemaline myopathy: Kino kye kika ekisinga okumanyibwa . Nga kitundu ku balwadde bonna aba nemaline myopathy be ba kika kino. Eno mbeera ebeerawo ng’azaalibwa. 2. Obulwadde bw’emisuwa bwa nemaline obw’obuzaale obw’omu makkati :Mu kika kino, obubonero tebuba bwa maanyi nnyo okusinga mu kika eky’amaanyi, naye buba bwa maanyi okusinga mu kika ekya bulijjo. Abalwadde nga 20% balina ekika kino. 3. Severe congenital (neonatal) nemaline myopathy : Eno mbeera ya maanyi ebeerawo nga bazaalibwa . Abalwadde nga 16% balina ekika kino. 4. Childhood- onset nemaline myopathy: Ekika kino kirabika wakati w’emyaka 10 ne 20. Abalwadde abasukka mu 10% balina ekika kino. 5. Adult-onset nemaline myopathy : Embeera eno ebaawo wakati w’emyaka 20 ne 50. Abalwadde nga 4% balina ekika kino. 6. Amish nemaline myopathy : Kino kika kya njawulo ekirabibwa mu bantu b’omu Amish. Butera nnyo era butera okuviirako okufa mu buto.

Ani ayinza okufuna embeera eno?

Obulwadde bwa Nemaline myopathy busobola okukwata omuntu yenna, awatali kufaayo ku kikula, ggwanga oba eddiini. Kyokka, singa omu ku bazadde bo oba bombi batambuza enkyukakyuka mu buzaale bw’obulwadde buno, oba oli mu bulabe bwa maanyi . Abantu mu kitundu ky’Abaamishi nabo bali mu bulabe bwa maanyi. Buno bulwadde obutatera kulabika nnyo . Abanoonyereza bagamba nti obulwadde buno bubeera mu baana nga omu ku buli 50,000 abazaalibwa nga balamu. Kyokka mu kitundu ky’Abaamishi, kigambibwa nti omuntu omu ku buli bantu 500 asobola okukosebwa embeera eno.

Biki ebivaako obulwadde bwa Nemaline Myopathy?

Nemaline myopathy bulwadde bwa magumba n'ebinywa byaffe . Kitera okuva ku nkyukakyuka mu buzaale, eziyitibwa enkyukakyuka mu buzaale . Enkyukakyuka zino ez’obuzaale zisobola okusikira okuva ku muzadde omu oba bombi.

• Oluusi, embeera eno esobola okubaawo singa abazadde bombi baba n’obuzaale obutali bwa bulijjo (i.e., busikira ng’engeri ya autosomal recessive trait) .
• Tekitera kubaawo, kiyinza okukula ne bwe kiba nti omuzadde omu yekka y’asikira obuzaale obutali bwa bulijjo (kwe kugamba, ng’engeri efuga autosomal ).
• Oluusi, embeera eno era esobola okuva ku nkyukakyuka empya, ey’obuzaale ey’ekifuulannenge mu nsigo oba eggi.

Kino kitera okuva ku nkyukakyuka mu buzaale bwa Nebulin (NEB) oba obuzaale bwa Actin alpha-1 (ACTA1) . Nebulin ne actin bika bya puloteyina bibiri ebiyamba ebinywa byaffe okukonziba. Zilowoozeeko ng’ebitundu by’ekyuma. Bwe wabaawo obuzibu ku bitundu bino, ebinywa bikoma okukola obulungi.

Bubonero ki obulaga obulwadde buno?

Obubonero obukulu obw’obulwadde bwa nemaline myopathy bwe buno:

• Okukendeera kw’ebinywa (Hypotonia) : Okuwulira obunafu mu mubiri, ng’omupiira gwa kapiira.
• Okukendeera oba okubula kw’ebizimba: Okukendeera kw’obusobozi bw’okutambuza ekigere ng’omusawo akuba okugulu n’ennyondo entono.
• Obunafu bw’ebinywa : Okuwulira ng’olina obunafu mu mubiri .

Singa omwana wo eyaakazaalibwa alaga obubonero buno, oyinza n’okulaba ebintu ebirala nga:

• Entambula etali ya bulijjo ey’okuwuubaala (obuzibu mu ntambula) .
• Okulwawo okukola emirimu gy’omubiri: Okulwawo mu bintu ng’okutuula, okuyimirira, n’okufuga omutwe.
• Okukaluubirirwa okwogera n’okumira (dysarthria ne dysphagia) .
• Ekitundu ky’akawanga kiteekebwa emabega okusinga ku kya bulijjo (retrognathia) .
• Okutwala ekifaananyi kya ffeesi ekiwanvu .
• Okukoonagana okutali kwa bulijjo okw'olulimi olwa waggulu olw'akamwa .
• Okwogera okutali kwa maanyi (okutaataaganyizibwa mu kukola emirimu gy’omubiri (velopharyngeal dysfunction) .
• Okussa okunafuwa nga weebase (nocturnal hypoventilation) , ekiyinza okuvaako okweyongera kw’omuwendo gwa kaboni dayokisayidi mu musaayi (hypercarbia) .
• Obuzibu mu kussa (okusannyalala) .

Abantu abalina embeera eno bayinza okufuna obubonero obulala nga bakaddiwa :

• Okukaluba kw'omugongo mu ngeri etaali ya bulijjo .
• Obulwadde bwa Scoliosis .
• Endagaano z'ebinywa .
• Ekifuba ekibbira (pectus excavatum) .

Obulwadde buno buzuulibwa butya?

Okusooka, omusawo ajja kukubuuza oba omwana wo ku bubonero bwo n’okumanya oba waliwo omuntu yenna mu maka go eyabadde n’embeera ezifaananako bwe zityo. Oluvannyuma, bajja kukola okukebera omubiri. Singa omusawo ateebereza obulwadde bwa nemaline myopathy, ajja kulagira okukeberebwa ebinywa . Kino kizingiramu okuggyamu akatundu akatono ak’ebinywa ng’alongoosebwa n’okukakebera. Singa ggwe oba omwana wo mulina embeera eno, ojja kulaba ebizimbe ebiringa obuwuzi (emibiri gya nemaline) mu kitundu ky’ekinywa ekyo. Omusawo era agenda kukola okukebera obuzaale .Era kiyinza okuteesebwako. Kino kiyinza okukakasa embeera y’obulwadde bwa nemaline myopathy.

Kijjanjabwa kitya?

Nga bwe kyayogeddwako emabegako, tewali ddagala lya njawulo eriwonya kino. N’olwekyo, obujjanjabi bugendereddwamu okukendeeza ku bubonero n’okuyamba okwanguyiza obulamu . Obujjanjabi buyinza okuli:

• Yamba ku buzibu bw’okussa: Kino kiyinza okuli okuteeka ekyuma ekisala empewo , okuyunga ku kyuma ekifulumya empewo eky’ebyuma , oba okukozesa ekyuma kya BiPAP .
• Dduyiro atakwata nnyo: Kuuma amaanyi g’ebinywa.
• Okujjanjaba masaagi n’okujjanjaba omubiri : Kuuma ebinywa nga bikola.
• Obujjanjabi bw’okwogera : Okukendeeza ku buzibu mu kwogera n’okusiwuuka empisa.
• Obukodyo bw'okugolola : Okwongera entambula y'ebinywa.
• Ebiyamba okutambula: Ebintu ng’omuggo, emiggo, ebisiba ku maviivi n’obugaali.

Singa obubonero buba bwa maanyi, oba bwe wabaawo ebizibu ebirala eby’obulamu, kiyinza okwetaagisa okuweebwa ekitanda mu ddwaaliro . Okuweebwa ekitanda mu ddwaaliro kiyinza okukuwa obujjanjabi buno wammanga:

• Obuyambi bw’okussa: Ng’okuyingiza empewo mu byuma okukuyamba okussa nga weebase.
• Okulongoosa : Jjanjaba okukonziba kw'ennyondo oba obulwadde bwa scoliosis .
• Endya y’omu lubuto : Bw’oba ​​okaluubirirwa okumira emmere.

Obulabe buno busobola okukendeezebwa?

Mu butuufu, tewali ngeri yonna gy’oyinza kweziyiza oba omwana wo kufuna bulwadde bwa nemaline myopathy. Kyokka, kikulu nnyo okumanya obubonero, okunoonya amagezi g’abasawo nga bukyali, n’okutandika okujjanjabibwa bwe kiba kyetaagisa .

Omuntu alina embeera eno ayinza kusuubira biseera bya mu maaso bya ngeri ki?

Kino ddala kyawukana nnyo okusinziira ku kika ky'obulwadde .

• Typical congenital nemaline myopathy: Obunafu bw’ebinywa butera okusigala nga bwe bumu okumala ekiseera. Kyokka bw’ogenda okaddiwa, obunafu buyinza okweyongera katono ng’okula.
• Obulwadde bw’emisuwa bwa nemaline obw’amaanyi obuzaalibwa (nenatal): Kino kiyinza okuleeta obuzibu . Okugeza nga:
• Ennyondo nnyingi zisibira mu mbeera nga zifukamidde oba nga zigaziyiziddwa (Arthrogryposis multiplex congenita) .
• Okussa emmere oba amazziObulwadde bw'ekifuba obuyitibwa aspiration pneumonia .
• Okumenyamenya.
• Obulwadde bw’ebinywa by’omutima (Cardiomyopathy) .
• Okulemererwa okussa .
• Intermediate congenital nemaline myopathy: Abantu bangi bayinza okwetaaga obuyambi mu kussa n’obugaali bw’abalema.
• Obulwadde bwa nemaline myopathy obutandika mu buto : Kino kiyinza okuvaako ebigere okugwa, nga kino kwe butasobola kugoya kigere waggulu w’enkizi. Era kiyinza okuvaako okufiirwa enkizi n’ebinywa by’amagulu ebya wansi okutambula.
• Adult-onset nemaline myopathy : Kino nakyo kiyinza okuleeta ebizibu :
• Okukaluubirirwa okussa.
• Okukaluubirirwa okukwata omutwe nga guyimiridde olw’ebinywa by’ensingo ebinafu.
• Ebizibu ebiva mu bulwadde bw’omutima.
• Okunafuwa kw’ebinywa okweyongera mpolampola.
• Amish nemaline myopathy : Ebizibu ebiva mu mbeera eno mulimu okunafuwa kw’ebinywa okugenda mu maaso, okulemererwa okussa, n’okukendeera kw’ebinywa .

Kale, ku biseera eby’omu maaso, kisinziira ku kika ky’obulwadde n’obuzibu bw’obubonero . Omuntu alina obulwadde buno obusinga obutono (typical congenital nemaline myopathy) ayinza okutambula nga talina buyambi bwonna. Wabula abantu abalina obulwadde obusinga okuba obw’amaanyi (Amish nemaline myopathy) batera okuwangaala emyaka nga ebiri.

Naye teweeraliikiriranga. Wadde nga tewali ddagala, singa bafuna obujjanjabi obutuufu, abantu bangi abalina obulwadde bwa nemaline myopathy basobola okuwangaala . Okusinziira ku kika ky’obulwadde, obulamu bw’omuntu buyinza okuva ku myezi mitono okutuuka ku bulamu bwonna.

Weerabirira otya oba omwana wo singa afuna embeera eno?

Osobola okuyamba okukendeeza ku bizibu ebiva mu mbeera eno ng’okola bino wammanga:

• Kebera omutima gwo buli kiseera.
• Noonya amagezi g’abasawo n’obujjanjabi mu bwangu singa ofuna obulwadde bw’enkola y’okussa eya wansi (e.g. bronchitis , okuzimba ekifuba, pneumonia ).

Bw’oba ​​otambuza obuzaale bw’obulwadde buno era ng’olina n’essuubi ly’okuzaala, kirungi okusisinkana omukugu mu kubudaabuda obuzaale okufuna amagezi .

Jjukira nga mu bufunze

Nemaline Myopathy (NM) mbeera etali ya bulijjo era ekosa ebinywa by’amagumba. Obubonero obukulu kwe kukendeera kw’ebinywa n’okunafuwa kw’ebinywa. Obulwadde buno bulina ebika ebiwerako, nga buli kimu kirina entandikwa n’obuzibu bw’obubonero obw’enjawulo. Wadde nga tewali ddagala lya njawulo, waliwo obujjanjabi obukendeeza ku bubonero.. Abantu abasinga obungi abalina ekika ekisinga okumanyibwa (typical congenital nemaline myopathy) basobola okubeera mu bulamu obw’okwetongola nga balina obujjanjabi obutuufu. Enteebereza y’ebika ebirala ya njawulo okusinziira ku buzibu bw’obubonero. N’olwekyo, kikulu nnyo okugoberera amagezi g’abasawo n’okufuna obujjanjabi obutuufu . Nemaline Myopathy, Obunafu bw’ebinywa, Endwadde z’obuzaale, Endwadde z’abaana, Endwadde z’obusimu, Obuzibu mu kussa, Okukebera ebinywa