Ingaba umzimba wakho okanye womntwana wakho uyacotha? Ngaba yiNemaline Myopathy?

Ngaba ngamanye amaxesha uziva ngathi umzimba wakho ubuthathaka kakhulu, okanye umntwana wakho omncinci wenza izinto emva kwexesha kunabanye abantwana, okanye ubonakala engenamandla? Ezi zinto zinokwenzeka ngezizathu ezahlukeneyo. Nangona kunjalo, namhlanje siza kuthetha ngemeko engaqhelekanga kodwa ebalulekileyo ekufuneka iqatshelwe. Leyo yimeko ebizwa ngokuba yiNemaline Myopathy .

Yintoni iNemaline Myopathy?

Ngamafutshane, iNemaline Myopathy yimeko echaphazela izihlunu ezinceda imizimba yethu ukuba ishukume (ekwaziwa ngokuba zimisipha yamathambo ). Oku kubangela ubuthathaka bemisipha (myopathy) kwiindawo ezahlukeneyo zomzimba. Ezi mpawu ngamanye amaxesha zinokubakho xa umntu ezalwa, okanye ebuntwaneni, kwaye azifumaneki rhoqo xa umntu emdala. Obu buthathaka bemisipha budla ngokuchaphazela:

• Ebusweni bakho
• Entanyeni
• Kwindawo yesinqe
• Ukuya emagxeni
• Kwiingalo nemilenze ephezulu

Kukho enye into ekhethekileyo ngale nemaline myopathy. Oko kukuthi, xa sihlola izihlunu (senza i biopsy ), sibona izinto ezifana nomsonto, ezifana nenduku ngaphakathi kwezihlunu (oku kubizwa ngokuba yi-nemaline bodies) . Igama lesiGrike elithi "nema" likwathetha "njengomsonto". Yiyo loo nto esi sifo safumana igama laso. Sibizwa nangamanye amagama, mhlawumbi ukhe weva ngaso:

• Isifo sentonga yokuzalwa
• Isifo somzimba weNemaline
• I-Myopathy yeRod

Uninzi lwabantu abane-nemaline myopathy bazalwa bene -genetic mutation efunyenwe kubazali babo . Nangona kunjalo, kunqabile kakhulu, le meko inokwenzeka ngaphandle kwembali yosapho, kwaye inokubangelwa kukutshintsha kwe-gene okungahleliwe.

Into ebalulekileyo kukuba akukho nyango lwe-nemaline myopathy. Nangona kunjalo, kukho iindlela ezahlukeneyo zonyango ezinokunceda ukulawula iimpawu nokwenza ubomi bube lula. Abantu abanohlobo oluqhelekileyo lwe-nemaline myopathy banokuphila ubomi obuqhelekileyo nobusebenzayo.

Ngaba kukho iintlobo ezahlukeneyo zeNemaline Myopathy?

Ewe, kukho iintlobo ezintandathu eziphambili ze-nemaline myopathy. Ixesha lokuqalisa kweempawu kunye nobunzima besifo ziyahluka ngokuxhomekeke kuhlobo. 1. I-nemaline myopathy eqhelekileyo yokuzalwa: Olu lolona hlobo luqhelekileyo . Malunga nesiqingatha sabo bonke abaguli be-nemaline myopathy bangamalungu olu hlobo. Olu yimeko ekhoyo ekuzalweni. 2. I-nemaline myopathy yokuzalwa ephakathi :Kolu hlobo, iimpawu azinzima kangako kunezo zinzima, kodwa zinzima ngakumbi kunezo ziqhelekileyo. Malunga nama-20% ezigulana zinalo olu hlobo. 3. I-nemaline myopathy ebuhlungu kakhulu ezalwa nayo (neonatal): Le yimeko enzima ekhoyo ekuzalweni . Malunga ne-16% yezigulana zinalo olu hlobo. 4. I-nemaline myopathy eqala ebuntwaneni : Olu hlobo luvela phakathi kweminyaka eli-10 nengama-20. Ngaphezulu kancinci kwe-10% yezigulana zinalo olu hlobo. 5. I-nemaline myopathy eqala kubantu abadala: Le meko yenzeka phakathi kweminyaka engama-20 nengama-50. Malunga ne-4% yezigulana zinalo olu hlobo. 6. I-nemaline myopathy yama-Amish : Olu luhlobo oluthile olubonwa kuluntu lwama-Amish. Lunqabile kakhulu kwaye lunokukhokelela ekufeni ebuntwaneni.

Ngubani onokuhlakulela le meko?

I-Nemaline myopathy inokuchaphazela nabani na, nokuba sisini, luhlanga, okanye unqulo. Nangona kunjalo, ukuba omnye okanye bobabini abazali bakho baphethe i-gene mutation yesi sifo, usengozini enkulu . Abantu kuluntu lwama-Amish nabo basengozini enkulu. Sisifo esingaqhelekanga kakhulu. Abaphandi bathi esi sifo senzeka kumntu omnye kwabangama-50,000 abazalwa bephila. Nangona kunjalo, kuluntu lwama-Amish, kuthiwa umntu omnye kwabangama-500 unokuchaphazeleka yile meko.

Zithini izizathu zeNemaline Myopathy?

I-Nemaline myopathy sisifo esichaphazela inkqubo yethu yamathambo kunye nemisipha . Idla ngokubangelwa lutshintsho kwiijini, olubizwa ngokuba zii-gene mutations . Olu tshintsho kwiijini lunokufunyanwa kumzali omnye okanye bobabini.

• Ngamanye amaxesha, le meko inokwenzeka ukuba bobabini abazali bane-gene engaqhelekanga (oko kukuthi, izuzwe njenge - autosomal recessive trait) .
• Ayifane ivele nokuba ngumzali omnye kuphela ofumana i-gene engaqhelekanga (oko kukuthi, njenge - autosomal dominant character ).
• Ngamanye amaxesha, le meko inokubakho nakwinguqu entsha yemfuza kwi-sperm okanye iqanda.

Oku kudla ngokubangelwa kukuguquka kwezakhi zofuzo kwiNebulin (NEB) okanye kwi-gene Actin alpha-1 (ACTA1) . INebulin kunye ne-actin ziintlobo ezimbini zeeproteni ezinceda izihlunu zethu ziqine. Zicinge njengeenxalenye zomatshini. Xa kukho ingxaki ngezi nxalenye, izihlunu ziyayeka ukusebenza kakuhle.

Zithini iimpawu zesi sifo?

Iimpawu eziphambili ze-nemaline myopathy zezi:

• Ukuncipha kwethoni yemisipha (Hypotonia) : Ukuziva ubuthathaka emzimbeni, njengebhola yerabha.
• Ukuncipha okanye ukulahleka kwe-reflexes: Ukuncipha kwamandla okushukumisa umlenze xa ugqirha ebetha idolo ngesando esincinci.
• Ubuthathaka bemisipha : Ukuziva ubuthathaka emzimbeni .

Ukuba umntwana wakho osandul’ ukuzalwa ubonakalisa ezi mpawu, ungabona nezinye izinto ezifana nezi:

• Ukushukuma okungaqhelekanga (ingxaki yokuhamba) .
• Izakhono zokuzilolonga ezicothayo: Ukulibazisa kwizinto ezifana nokuhlala, ukuma, kunye nokulawula intloko.
• Ubunzima bokuthetha nokuginya (i-dysarthria kunye ne-dysphagia) .
• Indawo yomhlathi ibekwe ngasemva kakhulu kunesiqhelo (retrognathia) .
• Ukuthatha ubuso obude .
• Ukugoba okungaqhelekanga kwenkalakahla engasentla yomlomo .
• Ukuthetha okungacacanga (ukungasebenzi kakuhle kwe-velopharyngeal) .
• Ukuphefumla okubuthathaka ngexesha lokulala (uxinzelelo lomoya ebusuku) , okunokubangela ukunyuka kwamanqanaba e-carbon dioxide egazini (hypercarbia) .
• Ubunzima bokuphefumla (ukuphelelwa ngamandla) .

Abantu abanale meko banokuba nezinye iimpawu njengoko bekhula :

• Ukuqina okungaqhelekanga komqolo .
• I-Scoliosis .
• Ukuqunjelwa kwamalungu .
• Isifuba esiye satshona (pectus excavatum) .

Sifunyaniswa njani esi sifo?

Okokuqala, ugqirha uza kukubuza wena okanye umntwana wakho ngeempawu zakho kunye nokuba kukho umntu kusapho lwakho oye waba neemeko ezifanayo na. Emva koko, baza kwenza uvavanyo lomzimba. Ukuba ugqirha ukrokrela ukuba i-nemaline myopathy, uza kuyalela ukuba kwenziwe i -biopsy yemisipha . Oku kuquka ukususa iqhekeza elincinci lezicubu zemisipha ngexesha lotyando kunye nokulihlola. Ukuba wena okanye umntwana wakho unale meko, uza kubona izakhiwo ezifana nomsonto (imizimba ye-nemaline) kuloo qhekeza lemisipha. Ugqirha uza kwenza novavanyo lwemfuza .Ingacetyiswa kwakhona. Oku kunokuqinisekisa imeko ye-nemaline myopathy.

Iphathwa njani?

Njengoko bekutshiwo ngaphambili, akukho ndlela ithile yokunyanga oku. Ngoko ke, unyango lujolise ekunciphiseni iimpawu nokunceda ukwenza ubomi bube lula . Unyango lungabandakanya:

• Uncedo ngobunzima bokuphefumla: Oku kungabandakanya ukubeka i- tracheostomy , ukuqhagamshela kumatshini wokungenisa umoya ngoomatshini , okanye ukusebenzisa umatshini we-BiPAP .
• Ukuzilolonga okungenampembelelo ingako: Gcina amandla emisipha.
• Unyango lokumasaja kunye nonyango lomzimba : Gcina ukusebenza kwezihlunu.
• Unyango lokuthetha : Ukunciphisa ubunzima bokuthetha kunye nokungathintitha.
• Iindlela zokuzolula : Yandisa intshukumo yemisipha.
• Izinto zokuncedisa ukuhamba: Izinto ezifana nomsimelelo, iintonga, izixhobo zokuxhasa amadolo, kunye nesitulo esinamavili.

Ukuba iimpawu zinzima, okanye kukho ezinye iingxaki zempilo, kunokufuneka ulaliswe esibhedlele . Ukulaliswa esibhedlele kunokubonelela ngonyango olulandelayo:

• Inkxaso yokuphefumla: Njengomoya osetyenziswa ngoomatshini ukukunceda uphefumle xa ulele.
• Utyando : Nyanga ukugoba kwamalungu okanye i-scoliosis .
• Isondlo sangaphakathi : Ukuba unengxaki yokuginya ukutya.

Ngaba le ngozi ingancitshiswa?

Inyaniso kukuba, akukho ndlela yokuthintela wena okanye umntwana wakho ekubeni ne-nemaline myopathy. Nangona kunjalo, kubaluleke kakhulu ukuqaphela iimpawu, ufune iingcebiso zonyango kwangethuba, kwaye uqale unyango ukuba kuyimfuneko .

Luhlobo luni lwekamva umntu onesi sifo anokulilindela?

Oku kuyahluka kakhulu kuxhomekeke kuhlobo lwesifo .

• I-nemaline myopathy eqhelekileyo yokuzalwa: Ubuthathaka bemisipha buhlala bufana ngokuhamba kwexesha. Nangona kunjalo, njengoko ukhula, ubuthathaka bunokwanda kancinci ngokukhula.
• I-nemaline myopathy ebuhlungu yokuzalwa (usana olusanda kuzalwa): Oku kunokubangela iingxaki . Umzekelo:
• Amalungu amaninzi abambeke kwindawo egobileyo okanye ende (i-Arthrogryposis multiplex congenita) .
• Ukuphefumla ukutya okanye ulweloI-pneumonia yokuphefumla .
• Ukuqhekeka kwamalungu omzimba.
• Isifo semisipha yentliziyo (Cardiomyopathy) .
• Ukungaphumeleli kokuphefumla .
• I-nemaline myopathy yokuzalwa ephakathi : Abantu abaninzi banokufuna uncedo lokuphefumla kunye nesihlalo sabakhubazekileyo.
• I -nemaline myopathy yokuqalisa kobuntwana : Oku kunokubangela ukuwa kweenyawo, okubangelwa kukungakwazi ukugoba unyawo ngaphezu kweqatha. Kungakhokelela nasekulahlekelweni kwemisipha yeqatha kunye nemilenze esezantsi.
• I-nemaline myopathy yabantu abadala : Oku kunokubangela iingxaki :
• Ubunzima bokuphefumla.
• Ubunzima bokubamba intloko ime nkqo ngenxa yemisipha yentamo ebuthathaka.
• Iingxaki zesifo sentliziyo.
• Ubuthathaka bemisipha buyanda kancinci kancinci.
• I-Amish nemaline myopathy : Iingxaki kule meko ziquka ubuthathaka bemisipha obuqhubekayo, ukungaphumeleli kokuphefumla, kunye nokuwohloka kwemisipha .

Ngoko ke, ngokubhekisele kwixesha elizayo, kuxhomekeke kuhlobo lwesifo kunye nobunzima beempawu . Umntu onohlobo oluncinci lwesi sifo (i-common congenital nemaline myopathy) unokukwazi ukuhamba ngaphandle kwenkxaso. Nangona kunjalo, abantu abanohlobo olubi kakhulu (i-Amish nemaline myopathy) badla ngokuphila iminyaka emibini.

Kodwa ungakhathazeki. Nangona kungekho nyango, ngonyango olufanelekileyo, abantu abaninzi abane-nemaline myopathy banokuphila ubomi obude . Ngokuxhomekeke kuhlobo lwesifo, ixesha lokuphila linokuqala kwiinyanga ezimbalwa ukuya kubomi bonke.

Uzinyamekela njani wena okanye umntwana wakho ukuba uphethwe yile meko?

Unokunceda ekunciphiseni iingxaki zale meko ngokwenza oku kulandelayo:

• Jonga ukusebenza kwentliziyo yakho rhoqo.
• Funa ingcebiso kagqirha kunye nonyango ngokukhawuleza ukuba unesifo sosulelo olusezantsi kwindlela yokuphefumla (umz. i-bronchitis , ukuxinana kwesifuba, i-pneumonia ).

Ukuba ungumthwali we-gene yesi sifo kwaye unethemba lokuba nomntwana, kulungile ukudibana nomcebisi we-genetic ukuze akunike iingcebiso .

Khumbula njengesishwankathelo

I-Nemaline Myopathy (NM) yimeko engaqhelekanga echaphazela izihlunu zamathambo. Iimpawu eziphambili kukuncipha kwethoni yezihlunu kunye nobuthathaka bezihlunu. Kukho iintlobo ezahlukeneyo zesi sifo, ngasinye sinokuqala okwahlukileyo kunye nobukhali beempawu. Nangona kungekho nyango luthile, kukho unyango lokunciphisa iimpawu.Uninzi lwabantu abanohlobo oluqhelekileyo (i-nemaline myopathy eqhelekileyo yokuzalwa) banokuphila ubomi obuzimeleyo ngonyango olufanelekileyo. Isiqinisekiso sezinye iintlobo siyahluka ngokuxhomekeke kubukhali beempawu. Ke ngoko, kubaluleke kakhulu ukulandela iingcebiso zonyango kunye nokufumana unyango olufanelekileyo . I-Nemaline Myopathy, Ubuthathaka beMisipha, Izifo zeMfuzo, Izifo zabantwana, Izifo zeNeuromuscular, Iingxaki zokuphefumla, i-Muscle Biopsy