Yini i-myasthenia yokuzalwa, izimpawu nokwelashwa

-Delile

• Izimpawu ze-Myasthenia Yokuzalwa
• Ukuxilongwa kwenziwa kanjani
• Ukwelashwa kwe-Congenital Myasthenia
• Ngabe i-myasthenia engokwemvelo ingalapheka?

I-Congenital Myasthenia yisifo esibandakanya ukuhlangana kwe-neuromuscular ngakho-ke sibangela ukuba buthakathaka kwemisipha okuqhubekayo, okuvame ukuholela umuntu ukuthi ahambe ngesihlalo sabakhubazekile. Lesi sifo singatholakala ebusheni noma ebudaleni futhi kuye ngohlobo lokushintshwa kofuzo umuntu anakho, kungelapheka ngokusetshenziswa kwemithi.

Ngaphezu kwemithi ekhonjiswe yisazi sezinzwa, i-physiotherapy nayo iyadingeka ukuthola amandla emisipha nokuxhumanisa ukunyakaza, kepha umuntu angakwazi ukuhamba ngokujwayelekile futhi, ngaphandle kwesidingo sesihlalo sabakhubazekile noma izinduku.

I-myasthenia ezalwa nayo ayifani ncamashi ne-myasthenia gravis ngoba esimweni seMyasthenia Gravis imbangela inguquko kumasosha omzimba womuntu, kuyilapho kuzalwa i-myasthenia imbangela kungukushintshwa kwezakhi zofuzo, okuvame ukwenzeka kubantu bomndeni owodwa.

Izimpawu ze-Myasthenia Yokuzalwa

Izimpawu ze-Congenital Myasthenia zivame ukuvela ezinganeni noma ezineminyaka ephakathi kwengu-3 nengu-7 ubudala, kepha ezinye izinhlobo zivela phakathi kweminyaka engama-20 nengama-40, okungaba:

Enganeni:

• Kunzima ukuncelisa noma ukuncelisa ibhodlela, ukuminyaniswa okulula namandla amancane okuncela;
• I-Hypotonia ezibonakalisa ngobuthakathaka bezingalo nemilenze;
• Ukujikisa ijwabu leso;
• Izinkontileka ezihlangene (i-arthrogryposis yokuzalwa);
• Ukuncipha kobuso;
• Ubunzima bokuphefumula nobunono bomlomo nezindebe;
• Ukubambezeleka kwentuthuko ukuhlala, ukukhasa nokuhamba;
• Izingane ezindala zingakuthola kunzima ukukhuphuka izitebhisi.

Ezinganeni, ebusheni noma kubantu abadala:

• Ubuthakathaka emilenzeni noma ezingalweni ngokuzwa ukuzwa;
• Kunzima ukuhamba unesidingo sokuhlala phansi uphumule;
• Kungaba nobuthakathaka emisipheni yamehlo econsa ijwabu leso;
• Ukukhathala lapho wenza imizamo emincane;
• Kungenzeka kube ne-scoliosis emgogodleni.

Kunezinhlobo ezi-4 ezahlukahlukene ze-myasthenia ezelwe: isiteshi esisheshayo, isiteshi esisheshayo sokusondelana, ukuntuleka okukhulu kwe-AChR noma ukushoda kwe-AChE. Njengoba i-myasthenia ezalwa ngesiteshi sokuhamba kancane ingavela phakathi kweminyaka engama-20 nengama-30 ubudala. Uhlobo ngalunye lunezici zalo kanti futhi nokwelashwa kungahlukahluka kuye ngomunye umuntu ngoba akuzona zonke ezinezimpawu ezifanayo.

Ukuxilongwa kwenziwa kanjani

Ukuxilongwa kweCongenital Myasthenia kufanele kwenziwe ngokuya ngezimpawu ezethulwe futhi kungaqinisekiswa ngokuhlolwa okufana nokuhlolwa kwegazi kweCK nokuhlolwa kofuzo, ukuhlolwa kwamasosha omzimba ukuqinisekisa ukuthi akuyona iMyasthenia Gravis, kanye ne-electromyography ehlola ikhwalithi yokuncipha. imisipha, isibonelo.

Ezinganeni ezindala, intsha kanye nabantu abadala, udokotela noma i-physiotherapist nayo ingenza izivivinyo ezithile ehhovisi ukukhomba ubuthakathaka bemisipha, njengokuthi:

• Bheka uphahla okwemizuzu emi-2, uluqinise bese ubheka ukuthi kukhona ukwanda kobunzima bokugcina izinkophe zivulekile;
• Phakamisa izingalo zakho phambili, kuze kufike ekuphakameni kwehlombe, ubambe lesi sikhundla imizuzu engu-2 bese ubona ukuthi kungenzeka yini ukugcina lokhu kuncipha noma uma izingalo zakho ziwa;
• Phakamisa i-stretcher ngaphandle kosizo lwezingalo zakho ngaphezu kwesikhathi esingu-1 noma phakamisa esihlalweni ngaphezu kwezikhathi ezi-2 ukubona ukuthi ngabe kunobunzima obukhulu ngokwengeziwe ekwenzeni lokhu kuhamba.

Uma ubuthakathaka bemisipha bubonwa futhi kunzima ukwenza lezi zivivinyo, kungenzeka kakhulu ukuthi kube nobuthakathaka bemisipha obujwayelekile, okukhombisa isifo esifana ne-myasthenia.

Ukuhlola ukuthi inkulumo nayo ithintekile yini, ungacela lowo muntu ukuthi acaphune izinombolo ezisuka ku-1 kuye ku-100 bese ubheka ukuthi ngabe kukhona yini ukushintsha kwethoni yezwi, ukwehluleka kwezwi noma ukwanda kwesikhathi phakathi kokubalulwa kwenombolo ngayinye.

Ukwelashwa kwe-Congenital Myasthenia

Ukwelashwa kuyahlukahluka ngohlobo lwe-myasthenia yokuzalwa umuntu anayo kepha kwezinye izimo amakhambi afana ne-acetylcholinesterase inhibitors, i-Quinidine, i-Fluoxetine, i-Ephedrine ne-Salbutamol ingakhonjiswa ngaphansi kwesincomo se-neuropediatrician noma i-neurologist. I-Physiotherapy ikhonjisiwe futhi ingasiza umuntu ukuthi azizwe engcono, ukulwa nobuthakathaka bemisipha nokwenza ngcono ukuphefumula, kepha ngeke kuphumelele ngaphandle kwemithi.

Izingane zingalala ngesifihla-mpilo se-oxygen esibizwa nge-CPAP futhi abazali kumele bafunde ukuhlinzeka ngosizo lokuqala uma kwenzeka beboshwa ngokuphefumula.

Ku-physiotherapy ukuvivinya umzimba kufanele kube kwe-isometric futhi kube nokuphindaphinda okumbalwa kepha kufanele kumboze amaqembu emisipha eminingana, kufaka phakathi lawo okuphefumula futhi awusizo kakhulu ekwandiseni inani le-mitochondria, imisipha, ama-capillaries futhi anciphise ukugxila kwe-lactate, ngamajaqamba amancane.

Ngabe i-myasthenia engokwemvelo ingalapheka?

Ezimweni eziningi, i-myasthenia yokuzalwa ayelapheki, edinga ukwelashwa impilo yonke. Kodwa-ke, imithi ne-physiotherapy kusiza ekuthuthukiseni ikhwalithi yempilo yomuntu, kuliwe nokukhathala nobuthakathaka bemisipha futhi kugweme izinkinga ezifana ne-atrophy yezingalo nemilenze kanye nokuklinya okungavela lapho ukuphefumula kungasebenzi, yingakho, impilo ibalulekile.

Abantu abane-Congenital Myasthenia ebangelwa ukukhubazeka kuhlobo lwe-DOK7 bangathuthuka kakhulu esimeni sabo, futhi ngokusobala 'bangalapheka' ngokusetshenziswa komuthi ovame ukusetshenziswa ukulwa nesifuba somoya, i-salbutamol, kodwa ngesimo samaphilisi noma ama-lozenges. Kodwa-ke, usengadinga ukwelashwa ngokomzimba ngezikhathi ezithile.

Lapho umuntu ene-Congenital Myasthenia futhi engalashwa, kancane kancane bazolahlekelwa amandla emisipheni, baphelelwe amandla, badinga ukuhlala belele embhedeni futhi bangafa ngenxa yokwehluleka ukuphefumula yingakho ukwelashwa kwemitholampilo kanye ne-physiotherapeutic kubaluleke kakhulu ngoba zombili zingathuthuka ikhwalithi yempilo yomuntu nokwelula impilo yakhe.

Eminye imishanguzo eba yimbi kakhulu isimo seCongenital Myasthenia yiCiprofloxacin, Chloroquine, Procaine, Lithium, Phenytoin, Beta-blockers, Procainamide neQuinidine ngakho-ke yonke imithi kufanele isetshenziswe kuphela ngaphansi kwezeluleko zezokwelapha ngemuva kokuhlonza uhlobo lomuntu analo.