Yintoni i-Spinal Muscular Atrophy, iimpawu eziphambili kunye nonyango

Umxholo

• Iimpawu eziphambili
• Uhlobo lwe-I - olubi okanye isifo seWerdnig-Hoffmann
• Uhlobo lwe-II-oluphakathi okanye olungapheliyo
• Uhlobo lwe-III-olunobulali, ulutsha okanye isifo saseKugelberg-Welander
• Uhlobo IV - umntu omdala
• Indlela yokuqinisekisa ukuxilongwa
• Unyango lwenziwa njani
• 1. Ukunyanga ngokwasemzimbeni
• 2. Ukusetyenziswa kwezixhobo kunye nonyango lomsebenzi
• 3. Ukutya okwaneleyo
• Olunye ukhetho lonyango
• Yintoni ebangela i-atrophy yemisipha

Umqolo we-muscular atrophy sisifo esinqabileyo semfuza esichaphazela iiseli zemithambo-luvo kwithambo lomqolo, elinoxanduva lokuhambisa isistim sombane ukusuka kwingqondo siye kwimisipha, ebangela ukuba umntu abenobunzima okanye angabinako ukuhambisa izihlunu ngokuzithandela.

Esi sifo sinzulu kwaye sibangela i-atrophy kunye nobuthakathaka be-muscle buthathaka. Ekuqaleni iimpawu zinokuchaphazela kuphela imilenze, kodwa ke esi sifo siqala ukuchaphazela iingalo, kwaye ekugqibeleni izihlunu zomboko.

Nangona lungekho unyango lwe-spinal muscular atrophy, kunokwenzeka ukuba wenze unyango lokulibazisa ukukhula kwesifo kunye nokuphucula umgangatho wobomi, ukuvumela umntu ukuba azimele ixesha elide.

Iimpawu eziphambili

Iimpawu ze-atrophy ye-spinal muscular atrophy ziyahluka ngohlobo lwesifo:

Uhlobo lwe-I - olubi okanye isifo seWerdnig-Hoffmann

Sisimo esibi sesi sifo esinokuchongwa phakathi kweenyanga ezi-0 ukuya kwezi-6 zobomi, njengoko sichaphazela ukukhula okuqhelekileyo kosana, okukhokelela kubunzima bokubamba intloko okanye ukuhlala ngaphandle kwenkxaso. Ukongeza, ubunzima bokuphefumla nokuginya ziqhelekile. Phambi konyaka omnye ubudala, usana alunakho ukuginya kunye nokondla kunye nobunzima bokuphefumla, obufuna ukulaliswa esibhedlele.

Iintsana ezifunyaniswe zinesifo esibuhlungu somqolo wokuqaqanjelwa yimisipha zineminyaka embalwa kuphela ubudala, kwaye ngamanye amaxesha azigqibi unyaka we-2, kodwa unyango oluphambili lukonyuse ixesha lokuphila.

Uhlobo lwe-II-oluphakathi okanye olungapheliyo

Ngokwesiqhelo iimpawu zokuqala zivela phakathi kweenyanga ezi-6 ne-18 kwaye zibandakanya ubunzima bokuhlala, ukuma okanye ukuhamba wedwa. Iintsana ezithile ziyakwazi ukuma ngenkxaso, kodwa azikwazi ukuhamba, zisenokuba nobunzima ekutyebeni ubunzima kunye nokukhohlela nzima, ngomngcipheko owandileyo wezifo zokuphefumla. Ukongeza, banokungcangcazela okuncinci kwaye banokuba ne-scoliosis.

Ubomi obulindelweyo bohluka phakathi kweminyaka eli-10 ukuya kwengama-40 ubudala, kuxhomekeka kwezinye izifo ezinokubakho, kunye nohlobo lonyango olwenziwayo.

Uhlobo lwe-III-olunobulali, ulutsha okanye isifo saseKugelberg-Welander

Olu hlobo lukhaphukhaphu kwaye luyakhula phakathi kobuntwana kunye nokufikisa kwaye, nangona kungabangeli ubunzima bokuhamba okanye bokuma, kuthintela imisebenzi enzima njengokunyuka okanye ukwehla kwezitepsi. Obu bunzima bunokuba mandundu, kude kube yimfuneko ukusebenzisa isitulo esinamavili. Iphinde yahlelwa njenge:

• Chwetheza i-3a: ukuqala kwesi sifo ngaphambi kweminyaka eyi-3, bayakwazi ukuhamba de kube li-20;
• Uhlobo lwe-3b: ukubonakala emva kweminyaka emi-3 ubudala, ngubani onokuqhubeka nokuhamba ubomi bonke.

Ngokuhamba kwexesha, umntu unokuba ne-scoliosis kunye nobomi bakhe obungapheliyo, uhlala kufutshane nesiqhelo.

Uhlobo IV - umntu omdala

Akukho mvumelwano malunga nokuba kufunyenwe nini, abanye abaphandi bathi kubonakala ngathi baneminyaka eli-10 ubudala, ngelixa abanye bethetha beneminyaka engama-30 ubudala. Kule meko, ilahleko yemoto ayinzima kakhulu, nokuba ukuginya okanye inkqubo yokuphefumla ayichaphazeleki kakhulu. Ke, iimpawu ezinamandla ezinjengokungcangcazela kweengalo nemilenze zikhona, kwaye ixesha lokuphila liqhelekile.

Indlela yokuqinisekisa ukuxilongwa

Ukuxilongwa akukho lula kwaye ukuqala kweempawu ugqirha okanye ugqirha wabantwana unokukrokrela uthotho lwezifo ezichaphazela inkqubo yeemoto, ukongeza kwi-spinal muscular atrophy. Ngesi sizathu, ugqirha unokuyalela kuvavanyo oluninzi ukulawula ezinye ii-hypotheses, kubandakanya i-electromyography, i-biopsy yemisipha kunye nohlalutyo lweemolekyuli.

Unyango lwenziwa njani

Unyango lwe-spinal muscular atrophy lwenziwa ukulawula iimpawu kunye nokuphucula umgangatho wobomi bomntu, kuba okwangoku akukwazeki ukunyanga utshintsho kwimfuza olubangela esi sifo.

Ukwenza olona nyango lusemagqabini, iqela leengcali ezininzi zezempilo, ezinje ngamathambo, ii-physiotherapists, abongikazi, izondlo kunye nabanyangi, umzekelo, kunokuba yimfuneko, ngokobunzima kunye nokusikelwa umda komntu ngamnye.

Ezona ndlela zonyango zisetyenzisiweyo zibandakanya:

1. Ukunyanga ngokwasemzimbeni

I-Physiotherapy ibaluleke kakhulu kuwo onke amatyala e-atrophy yemisipha, kuba ivumela ukugcina ukujikeleza kwegazi okwaneleyo, kuthintele ukuqina ngokudibeneyo, ukunciphisa ukulahleka kwemisipha kunye nokuphucula ukuguquguquka.

Ukuphakamisa iintsimbi, ukwenza imithambo ngeebhendi zerabha okanye ukuziqhelanisa noqeqesho lokuthoba imizimba yeminye yemizekelo yento enokwenziwa kwimeko ye-muscular atrophy Kodwa le mithambo kufuneka ikhokelwe ngugqirha womzimba kwiklinikhi ye-physiotherapy, umzekelo, njengoko zohluka ngokomda womntu ngamnye.

Ukongeza, izixhobo ze-electrostimulation zingasetyenziselwa ukukhuthaza ukunciphisa imithambo, njengoko kunjalo nakwimeko yangoku yaseRussia, enokhetho olukhulu lokuncedisa unyango.

2. Ukusetyenziswa kwezixhobo kunye nonyango lomsebenzi

Unyango emsebenzini lukhetho olukhulu lokunyusa umgangatho wobomi kwiimeko apho kukho ubunzima ekuhambeni okanye ekwenzeni imisebenzi elula yemihla ngemihla, njengokutya okanye ukuhamba, umzekelo.

Kungenxa yokuba, kwiiseshoni zonyango emsebenzini, umntu oyingcali unceda umntu ukuba asebenzise izixhobo ezincedisayo, ezinje ngezikhuselo ezizodwa okanye isitulo esinamavili, esivumela ukuba benze imisebenzi efanayo, nokuba isifo sinqongophele.

3. Ukutya okwaneleyo

Ukutya okwaneleyo kubaluleke kakhulu ekuqinisekiseni ukukhula kwabo banesifo semithambo, ngakumbi kwimeko yabantwana. Nangona kunjalo, uninzi lunobunzima bokuhlafuna okanye ukugwinya, umzekelo, kwaye kwezi meko, ingcali yesondlo ingabonisa okona kutya kulungileyo kunye nezongezo zokuhlangabezana nazo zonke iimfuno zomzimba.

Ukongeza, kwiimeko ezininzi, kunokuba yimfuneko ukusebenzisa ityhubhu yokondla okanye ityhubhu encinci edibanisa isisu kulusu lwesisu, ikuvumela ukuba wondle ngaphandle kokuhlafuna okanye ukuginya. Jonga ukuba ungayisebenzisa njani kwaye uyikhathalele iprosesa yokondla.

Olunye ukhetho lonyango

Ukongeza kwiindlela zonyango zangaphambili, ezinye iintlobo zonyango zinokufuneka, ngokweempawu kunye nokusikelwa umda komntu ngamnye. Umzekelo, kwimeko apho izihlunu zokuphefumla zichaphazelekayo, kunokuba yimfuneko ukusebenzisa izixhobo zokuphefumla ezinyanzela umoya emiphungeni, endaweni yemisipha.

Kubantwana abaneengxaki zemisipha kufutshane nomqolo, kunokuba yimfuneko ukwenza utyando ukulungisa i-scoliosis, kuba ukungalingani kwamandla emisipha kungakhokelela ekubeni umqolo ukhule ngokungafanelekanga.

Olunye unyango olutsha kukusetyenziswa kweyeza i-Spinraza, esele ivunyiwe e-United States kwaye ithembisa ukunciphisa iimpawu ze-atrophy ezibangelwa lutshintsho kuhlobo lwe-SMN-1. Qonda ukuba yintoni iSpinraza kwaye isebenza njani.

Unyango lwe-atrophy yemisipha yomqolo ihlala isenziwa ngokusetyenziswa kwamayeza, ukutya okukhethekileyo kunye nonyango lomzimba.

Yintoni ebangela i-atrophy yemisipha

Umqolo we-muscular atrophy ubangelwa kukutshintsha kwemfuza kwi-chromosome 5 ebangela ukungabikho kweprotein, eyaziwa njenge Ukusinda kweMoto yeNeuron-1 (SMN1), ibalulekile ekusebenzeni ngokuchanekileyo kwezihlunu. Kukho iimeko ezinqabileyo apho ukuvela kwemfuza kwenzeka kwezinye iintlobo zemfuza ezinxulumene nokuhamba ngokuzithandela kwezihlunu.