Yintoni myasthenia lokuzalwa, iimpawu kunye nonyango

Umxholo

• Iimpawu zoKuzalwa kweMyasthenia
• Uxilongo lwenziwa njani
• Unyango lweConastital Myasthenia
• Ngaba ukunyanga kwe-myasthenia kunganyangeka?

I-Congenital Myasthenia sisifo esibandakanya ukudibana kwe-neuromuscular kwaye ke oko kubangela ukuba buthathaka kwezihlunu eziqhubela phambili, zihlala zikhokelela umntu ukuba ahambe kwisitulo esinamavili. Esi sifo sinokufunyanwa kwinqanaba lokufikisa okanye ebudaleni kwaye ngokuxhomekeke kuhlobo lotshintsho lwemfuzo umntu analo, sinokunyangeka ngokusetyenziswa kwamayeza.

Ukongeza kumayeza aboniswe yi-neurologist, i-physiotherapy iyafuneka kwakhona ukufumana amandla emisipha kunye nokulungelelanisa iintshukumo, kodwa umntu unokuhamba ngesiqhelo kwakhona, ngaphandle kwesitulo esinamavili okanye iintonga.

I-myasthenia ye-Congenital ayifani ncam ne-myasthenia gravis kuba kwimeko ye-Myasthenia Gravis unobangela wotshintsho kwinkqubo yomzimba yokuzikhusela, ngelixa kwi-congenital myasthenia unobangela kukutshintsha kwemfuza, okuxhaphakileyo ebantwini kusapho olunye.

Iimpawu zoKuzalwa kweMyasthenia

Iimpawu zokuzalwa kwe-Myasthenia zihlala zivela kwiintsana okanye phakathi kweminyaka emi-3 ukuya kwe-7 ubudala, kodwa ezinye iintlobo zivela phakathi kweminyaka engama-20 ukuya kwengama-40, ezinokuthi:

Emntwaneni:

• Ubunzima bokuncancisa okanye ukuncancisa ibhotile, ukukrwitshwa ngokulula kunye namandla amancinci okuncancisa;
• IHypotonia ezibonakalisa ngobuthathaka beengalo nemilenze;
• Ukujikisa ijwabu leso;
• Izivumelwano ezihlangeneyo (i-arthrogryposis yokuzalwa);
• Ukuncipha kobuso;
• Ubunzima bokuphefumla kunye nokuhombisa iminwe kunye nemilebe;
• Ukulibaziseka kophuhliso lokuhlala, ukukhasa nokuhamba;
• Abantwana abadala basenokukufumanisa kunzima ukunyuka izitepsi.

Kubantwana, abakwishumi elivisayo okanye abantu abadala:

• Ubuthathaka emilenzeni okanye kwiingalo ngovalo;
• Kunzima ukuhamba kunye nesidingo sokuhlala phantsi uphumle;
• Kusenokubakho ubuthathaka kwizihlunu zamehlo eziwisa ijwabu leso;
• Ukudinwa xa usenza iinzame ezincinci;
• Kukho i-scoliosis emgodini.

Kukho iintlobo ezi-4 ezahlukeneyo ze-myasthenia yokuzalwa: ishaneli esicothayo, ishaneli esondeleleneyo esheshayo, ukusilela kwe-AChR okanye ukusilela kwe-AChE. Kuba i-myasthenia yokuzalwa engacacanga inokuvela phakathi kweminyaka engama-20 ukuya kwengama-30 ubudala. Uhlobo ngalunye luneempawu zalo kwaye unyango lungahluka ukusuka komnye umntu ukuya komnye kuba ayizizo zonke ezineempawu ezifanayo.

Uxilongo lwenziwa njani

Ukuchongwa kweConitalital Myasthenia kufuneka kwenziwe ngokusekwe kwiimpawu ezibonisiweyo kwaye kunokuqinisekiswa ngovavanyo olunje ngovavanyo lwegazi lweCK kunye novavanyo lwemfuzo, iimvavanyo zokulwa isifo ukuze kuqinisekiswe ukuba ayisiyo iMyasthenia Gravis, kunye ne-electromyography evavanya umgangatho wesivumelwano. umsipha, umzekelo.

Kubantwana abadala, abakwishumi elivisayo kunye nabantu abadala, ugqirha okanye i-physiotherapist inokwenza iimvavanyo ezithile eofisini ukuchonga ubuthathaka bemisipha, njengale:

• Jonga isilingi kangangemizuzu emi-2, uzinzise kwaye uqaphele ukuba kukho ukwanda kobunzima bokugcina iinkophe zivulekile;
• Phakamisa iingalo zakho phambili, ukuya kuthi xhaxhe egxalabeni, ubambe esi sikhundla imizuzu emi-2 kwaye ubone ukuba kunokwenzeka ukugcina olu thintelo okanye iingalo zakho ziyawa;
• Phakamisa isilula ngaphandle koncedo lweengalo zakho ngaphezulu kwexesha eli-1 okanye uphakamise esihlalweni ngaphezulu kwamaxesha ama-2 ukubona ukuba kukho ubunzima ngakumbi nangakumbi ekwenzeni ezi ntshukumo.

Ukuba ubuthathaka bemisipha buqwalaselwe kwaye kunzima ukwenza olu vavanyo, kunokwenzeka ukuba kukho ubuthathaka obuqhelekileyo bemisipha, obonisa isifo esifana ne-myasthenia.

Ukuvavanya ukuba intetho iyachaphazeleka na, ungacela umntu ukuba acaphule amanani ukusuka ku-1 ukuya ku-100 kwaye ajonge ukuba ngaba kukho utshintsho kwilizwi, ukusilela kwelizwi okanye ukwanda kwexesha phakathi kokucatshulwa kwenombolo nganye.

Unyango lweConastital Myasthenia

Unyango luyahluka ngohlobo lwe-myasthenia yokuzalwa umntu anayo kodwa kwezinye iimeko amayeza anje nge-acetylcholinesterase inhibitors, iQuinidine, iFluoxetine, i-Ephedrine kunye neSalbutamol inokuboniswa phantsi kwengcebiso yonyango lwe-neuropediatrician okanye ye-neurologist. I-Physiotherapy ibonakalisiwe kwaye inokunceda umntu ukuba azive engcono, ukulwa nobuthathaka bemisipha kunye nokuphucula ukuphefumla, kodwa ayizukusebenza ngaphandle kwamayeza.

Abantwana banokulala ngesigqumathelo seoksijini esibizwa ngokuba yi-CPAP kwaye abazali kufuneka bafunde ukubonelela ngoncedo lokuqala kwimeko yokubanjwa kokuphefumla.

Kwi-physiotherapy umthambo kufuneka ube yi-isometric kwaye ube nokuphindaphinda okumbalwa kodwa kufuneka kugubungele amaqela emisipha aliqela, kubandakanya nawokuphefumla kwaye aluncedo kakhulu ekwandiseni inani le-mitochondria, izihlunu, ii-capillaries kunye nokunciphisa uxinzelelo lwe-lactate, kunye neekram ezingephi.

Ngaba ukunyanga kwe-myasthenia kunganyangeka?

Kwiimeko ezininzi, i-myasthenia yokuzalwa ayinyangeki, ifuna unyango lobomi. Nangona kunjalo, amayeza kunye ne-physiotherapy zinceda ukuphucula umgangatho wobomi bomntu, ukulwa nokudinwa kunye nobuthathaka bemisipha kwaye kuthintele iingxaki ezinje nge-atrophy yeengalo nemilenze kunye nokukrwitshwa okunokuvela xa ukuphefumla kuphazamisekile, yiyo loo nto ubomi bubalulekile.

Abantu abane-Myasthenia yeCongenital ebangelwa sisiphene kwi-DOK7 gene banokuphucuka kakhulu kwimeko yabo, kwaye kubonakala ngathi 'banokunyangwa' kusetyenziswa amayeza aqhelekileyo asetyenziswa ngokuchasene nesifuba, i-salbutamol, kodwa ngohlobo lweepilisi okanye i-lozenges. Nangona kunjalo, usenokufuna ukwenza unyango lomzimba manqaphanqapha.

Xa umntu enesifo sokuzalwa seMyasthenia kwaye engafumani nyango, baya kuphulukana namandla emisipha ngokuthe chu, babe buthathaka, bafune ukuhlala belele ebhedini kwaye bangafa ngenxa yokusilela kokuphefumla kwaye yiyo loo nto unyango lweklinikhi kunye ne-physiotherapeutic lubaluleke kakhulu kuba zombini zinokuphucula umgangatho wobomi bomntu kunye nobomi obude.

Amanye amayeza ayenza mandundu imeko ye-Congenital Myasthenia yi-Ciprofloxacin, Chloroquine, Procaine, Lithium, Phenytoin, Beta-blockers, Procainamide kunye neQuinidine kwaye ke onke amayeza kufuneka asetyenziswe phantsi kweengcebiso zonyango emva kokuchongwa kohlobo umntu analo.