Ingabe umzimba wakho noma wengane yakho uyavilapha? Kungenzeka yini ukuthi yiNemaline Myopathy?

Ingabe ngezinye izikhathi uzizwa sengathi umzimba wakho ubuthakathaka kakhulu, noma ingane yakho encane yenza izinto sekwephuzile kunezinye izingane, noma ibonakala ingenawo amandla? Lezi zinto zingenzeka ngezizathu ezahlukahlukene. Kodwa-ke, namuhla sizokhuluma ngesimo esingavamile kodwa esibalulekile okubalulekile ukusiqaphela. Leso yisimo esibizwa ngokuthi i-Nemaline Myopathy .

Kuyini i-Nemaline Myopathy?

Kalula nje, i-Nemaline Myopathy yisimo esithinta imisipha esiza imizimba yethu ukuthi inyakaze (eyaziwa nangokuthi imisipha yamathambo ). Lokhu kubangela ubuthakathaka bemisipha (i-myopathy) ezingxenyeni ezahlukene zomzimba. Lezi zimpawu ngezinye izikhathi zingaba khona ekuzalweni, noma ebuntwaneni, futhi akuvamile kakhulu lapho umuntu esemdala. Lobu buthakathaka bemisipha buvame ukuthinta:

• Ebusweni bakho
• Entanyeni
• Endaweni yesinqe
• Kuze kube semahlombe
• Ngezingalo nemilenze engenhla

Kukhona okunye okukhethekile ngale nemaline myopathy. Okusho ukuthi, uma sihlola imisipha (senza i-biopsy ), sibona izinto ezifana nentambo, ezifana nenduku ngaphakathi kwemisipha (lokhu kubizwa ngokuthi imizimba ye-nemaline) . Igama lesiGreki elithi "nema" lisho futhi "njengentambo". Ngakho-ke yileyo ndlela lesi sifo esithole ngayo igama laso. Sibizwa nangamanye amagama, okungenzeka ukuthi wake wezwa ngaso:

• Isifo senduku yokuzalwa
• Isifo somzimba we-Nemaline
• I-Rod myopathy

Iningi labantu abane-nemaline myopathy bazalwa benokuguqulwa kwezakhi zofuzo okuzuzwe kubazali babo . Kodwa-ke, akuvamile kakhulu, lesi simo singavela ngaphandle komlando womndeni, futhi singabangelwa ukuguqulwa kwezakhi zofuzo okungahleliwe.

Into ebalulekile ukuthi ayikho ikhambi le-nemaline myopathy. Kodwa-ke, kunezindlela zokwelapha ezahlukahlukene ezingasiza ekulawuleni izimpawu futhi zenze impilo ibe lula. Abantu abanohlobo oluvame kakhulu lwe-nemaline myopathy bavame ukuphila impilo evamile nesebenzayo.

Ingabe kunezinhlobo ezahlukene ze-Nemaline Myopathy?

Yebo, kunezinhlobo eziyisithupha eziyinhloko ze-nemaline myopathy. Isikhathi sokuqala kwezimpawu kanye nobunzima besifo kuyahlukahluka kuye ngohlobo. 1. I-nemaline myopathy ejwayelekile yokuzalwa: Lolu uhlobo oluvame kakhulu . Cishe ingxenye yabo bonke abaguli be-nemaline myopathy bangabalolu hlobo. Lesi yisimo esikhona lapho bezalwa. 2. I-nemaline myopathy yokuzalwa ephakathi :Kulolu hlobo, izimpawu azinzima kangako kunezohlobo olunzima, kodwa zinzima kakhulu kunezohlobo olujwayelekile. Cishe ama-20% eziguli analolu hlobo. 3. I-nemaline myopathy ebuhlungu kakhulu ezalwa nayo (neonatal): Lesi yisimo esibi kakhulu esiba khona lapho kuzalwa . Cishe ama-16% eziguli analolu hlobo. 4. I-nemaline myopathy eqala ebuntwaneni : Lolu hlobo luvela phakathi kweminyaka eyi-10 nengama-20. Iziguli ezingaphezudlwana kwe-10% zinalolu hlobo. 5. I-nemaline myopathy eqala kubantu abadala: Lesi simo senzeka phakathi kweminyaka engama-20 nengama-50. Cishe ama-4% eziguli analolu hlobo. 6. I-nemaline myopathy yama-Amish : Lolu uhlobo oluthile olubonakala emphakathini wama-Amish. Akuvamile kakhulu futhi luvame ukuholela ekufeni ebuntwaneni.

Ubani ongahlakulela lesi simo?

I-Nemaline myopathy ingathinta noma ubani, kungakhathaliseki ubulili, uhlanga, noma inkolo. Kodwa-ke, uma omunye noma bobabili abazali bakho bephethe ukuguquka kwezakhi zofuzo kwalesi sifo, usengozini enkulu . Abantu emphakathini wama-Amish nabo basengozini enkulu. Kuyisifo esingavamile kakhulu. Abacwaningi bathi lesi sifo sivela cishe koyedwa kwabangu-50,000 abazalwa bephila. Kodwa-ke, emphakathini wama-Amish, kuthiwa oyedwa kwabangu-500 angathinteka yilesi simo.

Yiziphi izimbangela ze-Nemaline Myopathy?

I-Nemaline myopathy yisifo esithinta uhlelo lwethu lwamathambo kanye nemisipha . Ngokuvamile ibangelwa izinguquko ezakhiweni zofuzo, ezibizwa ngokuthi ukuguqulwa kwezakhi zofuzo . Lokhu kuguqulwa kwezakhi zofuzo kungazuzwa njengefa kumzali oyedwa noma bobabili.

• Ngezinye izikhathi, lesi simo singase senzeke uma bobabili abazali bephethe isakhi sofuzo esingavamile (okungukuthi, sizuzwe njengesici esiphindaphindayo se-autosomal) .
• Akuvamile, kungavela ngisho noma umzali oyedwa kuphela ozuza ifa lofuzo olungavamile (okungukuthi, njengesici esilawulayo se-autosomal ).
• Ngezinye izikhathi, lesi simo singavela futhi ekuguqukeni okusha kwezakhi zofuzo okungahleliwe esidoda noma eqandeni.

Lokhu kuvame ukubangelwa izinguquko ku-gene Nebulin (NEB) noma i-gene Actin alpha-1 (ACTA1) . I-Nebulin ne-actin izinhlobo ezimbili zamaprotheni ezisiza imisipha yethu ukuthi ifinyele. Zicabange njengezingxenye zomshini. Uma kunenkinga ngalezi zingxenye, imisipha iyayeka ukusebenza kahle.

Ziyini izimpawu zalesi sifo?

Izimpawu eziyinhloko ze-nemaline myopathy yilezi:

• Ukuncipha kwethoni yemisipha (i-Hypotonia) : Umuzwa wobuthakathaka emzimbeni, njengebhola lerabha.
• Ukuncipha noma ukulahleka kokusabela: Ukwehla kwamandla okunyakaza komlenze lapho udokotela eshaya idolo ngesando esincane.
• Ubuthakathaka bemisipha : Umuzwa wobuthakathaka emzimbeni .

Uma ingane yakho esanda kuzalwa ibonisa lezi zimpawu, ungase ubone nezinye izinto ezifana nalezi:

• Ukuzulazula okungajwayelekile (isifo sokuhamba) .
• Amakhono okunyakaza komzimba abambezelekile: Ukuphuza izinto ezifana nokuhlala, ukuma, nokulawula ikhanda.
• Ubunzima bokukhuluma nokugwinya (i-dysarthria kanye ne-dysphagia) .
• Indawo yomhlathi ibekwe emuva kakhulu kunokujwayelekile (i-retrognathia) .
• Ukuthatha isimo sobuso obude .
• Ukugoba okungajwayelekile komlomo ongaphezulu .
• Inkulumo engacacile (ukungasebenzi kahle kwe-velorpharyngeal) .
• Ukuphefumula okubuthakathaka ngesikhathi sokulala (ukuphefumula okuncane ebusuku) , okungabangela ukwanda kwamazinga e-carbon dioxide egazini (i-hypercarbia) .
• Ubunzima bokuphefumula (ukuphelelwa umoya) .

Abantu abanalesi simo bangase babe nezinye izimpawu njengoba bekhula :

• Ukuqina okungavamile komgogodla .
• I-Scoliosis .
• Ukugoqana kwamalunga .
• Isifuba esishonile (i-pectus excavatum) .

Lesi sifo sitholakala kanjani?

Okokuqala, udokotela uzokubuza wena noma ingane yakho ngezimpawu zakho nokuthi ngabe kukhona yini emndenini wakho oke waba nezimo ezifanayo. Ngemuva kwalokho, bazokwenza ukuhlolwa ngokomzimba. Uma udokotela esola ukuthi i-nemaline myopathy, uzoyala ukuthi kwenziwe i -biopsy yemisipha . Lokhu kuhilela ukususa ingxenye encane yezicubu zemisipha ngesikhathi sokuhlinzwa bese uyihlola. Uma wena noma ingane yakho inalesi simo, uzobona izakhiwo ezifana nentambo (imizimba ye-nemaline) kuleyo ngxenye yemisipha. Udokotela uzokwenza nokuhlolwa kofuzo .Kunganconywa futhi. Lokhu kungaqinisekisa isimo se-nemaline myopathy.

Iphathwa kanjani?

Njengoba kushiwo ngaphambili, ayikho ikhambi eliqondile lalokhu. Ngakho-ke, ukwelashwa kuhloselwe ukunciphisa izimpawu nokusiza ukwenza impilo ibe lula . Ukwelashwa kungafaka:

• Usizo ngobunzima bokuphefumula: Lokhu kungafaka phakathi ukubeka i- tracheostomy , ukuxhuma emshinini wokungenisa umoya ngomshini , noma ukusebenzisa umshini we-BiPAP .
• Ukuzivocavoca okungenamthelela omkhulu: Gcina amandla emisipha.
• Ukwelashwa ngokubhucunga kanye nokwelashwa ngokomzimba : Gcina ukusebenza kwemisipha.
• Ukwelashwa kwenkulumo : Kunciphisa ubunzima bokukhuluma kanye nokungingiza.
• Amasu okwelula : Khulisa ukunyakaza kwemisipha.
• Izinto zokusiza ukuhamba: Izinto ezifana nenduku, izinduku zokubambelela, izinsimbi zokubopha amadolo, kanye nesihlalo sabakhubazekile.

Uma izimpawu zinzima, noma uma kunezinye izinkinga zempilo, kungadingeka ukuthi ulaliswe esibhedlela . Ukulaliswa esibhedlela kungakunikeza ukwelashwa okulandelayo:

• Ukusekelwa kokuphefumula: Njengomoya womshini ukukusiza uphefumule ngesikhathi sokulala.
• Ukuhlinzwa : Yelapha ukugoqana kwamalunga noma i-scoliosis .
• Ukudla okunempilo : Uma unenkinga yokugwinya ukudla.

Ingabe le ngozi ingancishiswa?

Eqinisweni, ayikho indlela yokuvimbela wena noma ingane yakho ekutholeni i-nemaline myopathy. Kodwa-ke, kubaluleke kakhulu ukuqaphela izimpawu, ukufuna iseluleko sezokwelapha kusenesikhathi, bese uqala ukwelashwa uma kudingeka .

Hlobo luni lwekusasa umuntu onalesi simo angalulindela?

Lokhu kuyahlukahluka kakhulu kuye ngohlobo lwesifo .

• I-nemaline myopathy ejwayelekile yokuzalwa: Ubuthakathaka bemisipha buhlala bufana ngokuhamba kwesikhathi. Kodwa-ke, njengoba ukhula, ubuthakathaka bungakhula kancane ngokukhula.
• I-nemaline myopathy ebuhlungu yokuzalwa (esanda kuzalwa): Lokhu kungabangela izinkinga . Isibonelo:
• Amalunga amaningi anamathela esimweni sokugoba noma sokunwebeka (i-Arthrogryposis multiplex congenita) .
• Ukuphefumula ukudla noma uketsheziI-pneumonia yokuphefumula .
• Ukuphuka kwamathambo.
• Isifo semisipha yenhliziyo (i-Cardiomyopathy) .
• Ukwehluleka kokuphefumula .
• I-nemaline myopathy yokuzalwa ephakathi : Abantu abaningi bangadinga usizo lokuphefumula kanye nesihlalo sabakhubazekile.
• I-nemaline myopathy yokukhula kwengane : Lokhu kungabangela ukuwa kwezinyawo, isimo lapho iqakala lingenakuphakanyiswa ngaphezu kweqakala. Kungaholela nasekulahlekelweni kokunyakaza kweqakala kanye nemisipha yemilenze engezansi.
• I-nemaline myopathy eqala kubantu abadala : Lokhu kungabangela nezinkinga :
• Ubunzima bokuphefumula.
• Ubunzima bokubamba ikhanda liqonde ngenxa yemisipha yentamo ebuthakathaka.
• Izinkinga zesifo senhliziyo.
• Ubuthakathaka bemisipha bukhula kancane kancane.
• I-Amish nemaline myopathy : Izinkinga kulesi simo zifaka phakathi ubuthakathaka bemisipha obuqhubekayo, ukwehluleka kokuphefumula, kanye nokuwohloka kwemisipha .

Ngakho-ke, ngokuphathelene nekusasa, kuncike ohlotsheni lwesifo kanye nobunzima bezimpawu . Umuntu onohlobo oluncane kakhulu lwalesi sifo (i-nemaline myopathy ejwayelekile yokuzalwa) angase akwazi ukuhamba ngaphandle kokusekelwa. Kodwa-ke, abantu abanohlobo olubi kakhulu (i-Amish nemaline myopathy) bavame ukuphila iminyaka engaba mibili.

Kodwa ungakhathazeki. Nakuba kungekho ukwelashwa, ngokwelashwa okufanele, abantu abaningi abane-nemaline myopathy bangaphila impilo ende . Kuye ngohlobo lwesifo, isikhathi sokuphila singasukela ezinyangeni ezimbalwa kuya empilweni yonke.

Uzinakekela kanjani wena noma ingane yakho uma ihlushwa yilesi simo?

Ungasiza ekunciphiseni izinkinga zalesi simo ngokwenza okulandelayo:

• Hlola ukusebenza kwenhliziyo yakho njalo.
• Funa iseluleko sikadokotela kanye nokwelashwa ngokushesha uma uthola ukutheleleka kwephefumo eliphansi (isib. i-bronchitis , ukuminyana kwesifuba, i-pneumonia ).

Uma ungumthwali wesakhi sofuzo salesi sifo futhi unethemba lokuba nomntwana, kuwumqondo omuhle ukuhlangana nomeluleki wezakhi zofuzo ukuze uthole iseluleko .

Khumbula njengesifinyezo

I-Nemaline Myopathy (NM) yisimo esingavamile esithinta imisipha yamathambo. Izimpawu eziyinhloko ukwehla kwethoni yemisipha kanye nobuthakathaka bemisipha. Kunezinhlobo eziningana zalesi sifo, ngasinye sinokuqala okuhlukile kanye nobukhali bezimpawu. Nakuba kungekho ukwelashwa okuqondile, kunezindlela zokwelapha zokunciphisa izimpawu.. Iningi labantu abanohlobo oluvame kakhulu (i-nemaline myopathy ejwayelekile yokuzalwa) bangaphila impilo yokuzimela ngokwelashwa okufanele. Ukubikezela kwezinye izinhlobo kuyahlukahluka kuye ngobukhulu bezimpawu. Ngakho-ke, kubaluleke kakhulu ukulandela iseluleko sezokwelapha nokuthola ukunakekelwa okufanele . I-Nemaline Myopathy, Ubuthakathaka Bemisipha, Izifo Zofuzo, Izifo Zezingane, Izifo Zezinzwa Nemisipha, Izinkinga Zokuphefumula, I-Muscle Biopsy