Muviri wako kana wemwana wako une tsinga here? Ingava Nemaline Myopathy here?

Dzimwe nguva unonzwa sekuti muviri wako hauna simba, kana kuti mwana wako ari kuita zvinhu zvishoma kunonoka kupfuura vamwe vana, kana kuti anoita seasina simba? Zvinhu izvi zvinogona kuitika nekuda kwezvikonzero zvakasiyana-siyana. Zvisinei, nhasi tichataura nezvechirwere chisingawanzoitiki asi chakakosha chinofanira kucherechedzwa. Chirwere ichi chinonzi Nemaline Myopathy .

Chii chinonzi Nemaline Myopathy?

Zvichitaurwa zviri nyore, Nemaline Myopathy chirwere chinokanganisa tsandanyama dzinobatsira miviri yedu kufamba (chinozivikanwawo setsandanyama dzemapfupa ). Izvi zvinokonzera kushaya simba kwetsandanyama (myopathy) munzvimbo dzakasiyana dzemuviri. Zviratidzo izvi zvinogona dzimwe nguva kuvapo pakuzvarwa, kana panguva yehudiki, uye kashoma pakukura. Kushaya simba kwetsandanyama uku kunowanzo kanganisa:

• Kumeso kwako
• Kumutsipa
• Kunzvimbo yehudyu
• Kumafudzi
• Kwemaoko nemakumbo ekumusoro

Pane chimwe chinhu chakakosha nezve iyi nemaline myopathy. Kureva kuti, patinoongorora tsandanyama (tinoita biopsy ), tinoona zvinhu zvakaita seshinda, zvakaita setsvimbo mukati metsandanyama (izvi zvinonzi nemitumbi yenemaline) . Izwi rechiGiriki rekuti "nema" rinorevawo "kufanana neshinda". Saka ndizvo zvakaita kuti chirwere ichi chiwane zita racho. Chinonziwo nemamwe mazita, ungave wakambonzwa nezvacho:

• Chirwere chetsvimbo chekuzvarwa nacho
• Chirwere chemuviri weNemaline
• Tsvimbo yemusana

Vanhu vazhinji vane nemaline myopathy vanozvarwa vaine majini akagarwa nhaka kubva kuvabereki vavo . Zvisinei, kashoma, chirwere ichi chinogona kuitika pasina nhoroondo yemhuri, uye chinogona kukonzerwa nekuchinja kwemajini kusingatarisirwi.

Chinhu chakakosha ndechekuti hapana mushonga we nemaline myopathy. Zvisinei, kune nzira dzakasiyana-siyana dzekurapa dzinogona kubatsira kudzora zviratidzo uye kuita kuti hupenyu huve nyore. Vanhu vane rudzi rwakajairika rwe nemaline myopathy vanogona kurarama hupenyu hwakajairika uye hune simba.

Kune mhando dzakasiyana dzeNemaline Myopathy here?

Ehe, kune mhando nhanhatu huru dze nemaline myopathy. Nguva yekutanga kwezviratidzo uye kuoma kwechirwere zvinosiyana zvichienderana nerudzi rwechirwere. 1. Normal congenital nemaline myopathy: Iyi ndiyo mhando inonyanya kuwanikwa . Inenge hafu yevarwere vese vane nemaline myopathy ndeverudzi urwu. Ichi chirwere chinowanikwa pakuzvarwa. 2. Intermediate congenital nemaline myopathy:Murudzi urwu, zviratidzo hazvina kunyanya kuipa pane zverudzi rwakanyanya, asi zvakanyanya kupfuura zverudzi rwemazuva ose. Vanenge 20% yevarwere vane rudzi urwu. 3. Nemaline myopathy yakanyanya kuberekwa (neonatal): Iri idambudziko rakaoma rinovapo pakuzvarwa . Vanenge 16% yevarwere vane rudzi urwu. 4. Nemaline myopathy inotanga paudiki : Rudzi urwu runowanikwa pakati pemakore gumi nemakumi maviri. Vanopfuura 10% yevarwere vane rudzi urwu. 5. Nemaline myopathy inotanga pakukura: Iri idambudziko rinoonekwa pakati pemakore makumi maviri nemakumi mashanu. Vanenge 4% yevarwere vane rudzi urwu. 6. Amish nemaline myopathy : Iri idambudziko rakasiyana rinoonekwa pakati penharaunda yevaAmish. Hariwanzoitiki uye rinogona kukonzera rufu muhudiki.

Ndiani anogona kuva nechirwere ichi?

Nemaline myopathy inogona kukanganisa chero munhu, zvisinei nekuti murume kana mukadzi here, rudzi, kana chitendero. Zvisinei, kana mumwe wevabereki vako kana vese vane majini echirwere ichi, uri panjodzi huru . Vanhu vari munharaunda yeAmish vari panjodzi huruwo. Ichi chirwere chisingawanzoitiki . Vaongorori vanoti chirwere ichi chinoitika muvanhu vanosvika zviuru makumi mashanu vanozvarwa vari vapenyu. Zvisinei, munharaunda yeAmish, zvinonzi munhu mumwe chete pavanhu mazana mashanu anogona kubatwa nechirwere ichi.

Ndezvipi zvinokonzera Nemaline Myopathy?

Nemaline myopathy chirwere chinobata mapfupa edu netsandanyama . Chinowanzo kukonzerwa nekuchinja kwemajini, kunonzi gene mutations . Kuchinja kwemajini uku kunogona kugara nhaka kubva kumubereki mumwe chete kana vese.

• Dzimwe nguva, chirwere ichi chinogona kuitika kana vabereki vese vaine jini risingawanzoitiki (kureva kuti, rinogarwa nhaka se autosomal recessive trait) .
• Kashoma, inogona kukura kunyangwe mubereki mumwe chete akagara nhaka jini risingawanzoitiki (ndiko kuti, sehunhu hunotonga hwe autosomal ).
• Dzimwe nguva, chirwere ichi chinogonawo kuitika kubva mukuchinja kwemajini kutsva, kusina kurongeka mumbeu kana zai.

Izvi zvinowanzokonzerwa nekuchinja kwemasero mujini reNebulin (NEB) kana jini reActin alpha-1 (ACTA1) . Nebulin neactin mhando mbiri dzemapuroteni anobatsira tsandanyama dzedu kusimba. Funga nezvawo sezvikamu zvemuchina. Kana paine dambudziko nezvikamu izvi, tsandanyama dzinomira kushanda zvakanaka.

Ndezvipi zviratidzo zvechirwere ichi?

Zviratidzo zvikuru zve nemaline myopathy ndeizvi:

• Kuderera kwetsinga dzemuviri (Hypotonia) : Kunzwa kushaya simba mumuviri, sebhora rerabha.
• Kudzikira kana kurasikirwa nepfungwa: Kudzikira kwekugona kufambisa gumbo kana chiremba akarova ibvi nenyundo diki.
• Kushaya simba kwetsandanyama : Kunzwa kushaya simba mumuviri .

Kana mwana wako achangoberekwa akaratidza zviratidzo izvi, unogona kuona zvimwe zvinhu zvakaita se:

• Kufamba-famba kusingawanzoitiki (kusagadzikana kwekufamba) .
• Kunonoka kwekushanda kwemuviri: Kunonoka kuita zvinhu zvakaita sekugara, kumira, uye kudzora musoro.
• Kuoma kutaura nekumedza (dysarthria uye dysphagia) .
• Nzvimbo yeshaya iri kumashure kupfuura zvakajairika (retrognathia) .
• Kutora chimiro chechiso chakareba .
• Kukombama kusina kujairika kwemukanwa wepamusoro wemuromo .
• Kutaura kusina kunyatsojeka (kusashanda zvakanaka kwetsinga dzeropa) .
• Kufema kusina simba panguva yekurara (husiku husina kugadzikana) , izvo zvinogona kukonzera kuwedzera kwehuwandu hwecarbon dioxide muropa (hypercarbia) .
• Kutadza kufema zvakanaka (dyspnea) .

Vanhu vane chirwere ichi vanogona kutanga kuva nezvimwe zviratidzo pavanenge vachikura :

• Kuomarara kwemusana kusingajairika .
• Kurwara kwemusoro (scoliosis ).
• Kubatana kwemajoini .
• Chipfuva chakanyura (pectus excavatum) .

Chirwere ichi chinoonekwa sei?

Kutanga, chiremba achakubvunza iwe kana mwana wako nezvezviratidzo zvako uye kana paine mumwe munhu mumhuri yako akambova nematambudziko akafanana. Zvadaro, vachaongorora muviri. Kana chiremba achifungidzira kuti ane chirwere che nemaline myopathy, acharaira kuti apihwe tsandanyama . Izvi zvinosanganisira kubvisa chidimbu chidiki chetsandanyama panguva yekuvhiyiwa uye kuchiongorora. Kana iwe kana mwana wako aine chirwere ichi, uchaona maumbirwo akaita seshinda (nemaline bodies) mutsandanyama iyoyo. Chiremba achaitawo bvunzo dzemajini .Inogonawo kukurudzirwa. Izvi zvinogona kusimbisa mamiriro e nemaline myopathy.

Inorapwa sei?

Sezvambotaurwa, hapana mushonga chaiwo weizvi. Nokudaro, kurapwa kwakanangana nekuderedza zviratidzo uye kubatsira kuita kuti hupenyu huve nyore . Kurapa kunogona kusanganisira:

• Rubatsiro pakufema: Izvi zvinogona kusanganisira kuisa tracheostomy , kubatanidza nemuchina wekufema wemakanika , kana kushandisa muchina weBiPAP .
• Kurovedza muviri kusingakuvadzi muviri zvakanyanya: Chengetedza simba remhasuru.
• Kurapa nekukwiza muviri : Kuchengetedza kushanda kwemhasuru.
• Kurapa kwekutaura : Kuderedza matambudziko ekutaura uye kukakama.
• Maitiro ekutambanudza : Wedzera kufamba kwemhasuru.
• Zvinhu zvinobatsira pakufamba: Zvinhu zvakaita setsvimbo, madondoro, masimbi ekutsigira mabvi, uye wiricheya.

Kana zviratidzo zvakomba, kana paine mamwe matambudziko ehutano, ungangoda kuenda kuchipatara . Kurapwa muchipatara kunogona kukupa mishonga inotevera:

• Rutsigiro rwekufema: Zvakadai sekufemereka kwemuchina kuti zvikubatsire kufema panguva yekurara.
• Kuvhiyiwa : Rapai majoini akabatana kana kuti scoliosis .
• Kudya kwemuviri : Kana uchinetseka kumedza chikafu.

Njodzi iyi inogona kuderedzwa here?

Kutaura chokwadi, hapana nzira yekudzivirira iwe kana mwana wako kubva mukuva ne nemaline myopathy. Zvisinei, zvakakosha kuziva zviratidzo, kutsvaga mazano echiremba nekukurumidza, uye kutanga kurapwa kana zvichidikanwa .

Munhu ane chirwere ichi angatarisira remangwana rerudzii?

Izvi zvinosiyana zvakanyanya zvichienderana nerudzi rwechirwere .

• Kushaya simba kwetsandanyama kwakajairika panguva yekuzvarwa: Kushaya simba kwetsandanyama kunowanzo gara kwakadaro nekufamba kwenguva. Zvisinei, sezvaunokura, kushaya simba kunogona kuwedzera zvishoma nekukura.
• Nemaline myopathy yakanyanya yekuzvarwa nayo : Izvi zvinogona kukonzera matambudziko . Semuenzaniso:
• Majoini mazhinji anonamira panzvimbo yakakombama kana yakareba (Arthrogryposis multiplex congenita) .
• Kufema chikafu kana zvinwiwaMabayoniya ekufema .
• Kutyoka kwemapfupa.
• Chirwere chetsandanyama dzemwoyo (Cardiomyopathy) .
• Kutadza kufema zvakanaka .
• Chirwere chepfungwa chepakati pekuzvarwa nacho chinonzi nemaline myopathy: Vanhu vazhinji vangada rubatsiro rwekufema uye chigaro chevatakuri.
• Kutanga kwevana vane chirwere chemarine chinonzi nemaline myopathy: Izvi zvinogona kukonzera kudonha kwetsoka, uko kunokonzerwa nekusakwanisa kukotama tsoka pamusoro pegumbo. Zvinogonawo kukonzera kurasikirwa nekufamba kwetsandanyama dzegumbo netsoka dzepasi.
• Nemaline myopathy inotanga kukura : Izvi zvinogona kukonzerawo matambudziko :
• Kutadza kufema zvakanaka.
• Kuomerwa nekubata musoro wakatwasuka nekuda kwekusasimba kwemhasuru dzemutsipa.
• Matambudziko ezvirwere zvemwoyo.
• Kushaya simba kwetsandanyama kunowedzera zvishoma nezvishoma.
• Amish nemaline myopathy : Matambudziko ari muchirwere ichi anosanganisira kushaya simba kwetsandanyama, kutadza kufema, uye kupera simba kwetsandanyama .

Saka, kana zviri zveramangwana, zvinoenderana nerudzi rwechirwere uye kuoma kwezviratidzo . Munhu ane chirwere chisina kunyanya kuoma (typical congenital nemaline myopathy) anogona kufamba asina rutsigiro. Zvisinei, vanhu vane chirwere chakanyanya kuoma (Amish nemaline myopathy) vanowanzorarama kwemakore maviri.

Asi musazvidya moyo. Kunyange hazvo pasina mushonga, kana mukarapa zvakanaka, vanhu vazhinji vane nemaline myopathy vanogona kurarama hupenyu hurefu . Zvichienderana nerudzi rwechirwere, tarisiro yekurarama inogona kubva pamwedzi mishoma kusvika kuhupenyu hwese.

Unozvitarisira sei iwe kana mwana wako kana achitambura nechirwere ichi?

Unogona kuderedza matambudziko echirwere ichi nekuita zvinotevera:

• Tarisa mashandiro emoyo wako nguva nenguva.
• Tsvaga rubatsiro rwechiremba nekukasika kana ukatanga kufema zvisina kunaka (semuenzaniso bronchitis , kuzara kwechipfuva, pneumonia ).

Kana uri mutakuri wejini rechirwere ichi uye uchitarisirawo kuva nemwana, zvakanaka kusangana nenyanzvi yezvemajini kuti ikupe mazano .

Rangarira sechidimbu

Nemaline Myopathy (NM) chirwere chisingawanzoitiki chinokanganisa tsandanyama dzemapfupa. Zviratidzo zvikuru kudzikira kwesimba retsandanyama uye kushaya simba kwetsandanyama. Kune mhando dzakasiyana dzechirwere ichi, chimwe nechimwe chine kutanga kwakasiyana uye kuoma kwezviratidzo. Kunyangwe pasina mushonga chaiwo, kune mishonga yekuderedza zviratidzo.Vanhu vazhinji vane chirwere cherudzi rwakajairika (chakajairika chekuzvarwa nemaline myopathy) vanogona kurarama hupenyu hwavo vega kana vachirapwa zvakanaka. Kufanotaura kwemamwe marudzi kunosiyana zvichienderana nekuoma kwezviratidzo. Nokudaro, zvakakosha kutevedzera mazano echiremba uye kuwana rubatsiro rwakakodzera . Nemaline Myopathy, Kushaya Simba kwetsandanyama, Zvirwere zvemajini, Zvirwere zvevana, Zvirwere zveNeuromuscular, Matambudziko ekufema, Kuongororwa kwetsandanyama