He aha ka myasthenia hānau, nā ʻōuli a me nā lāʻau

Anter

• Nā Hōʻailona o Congenital Myasthenia
• Pehea e hana ʻia ai ke kuhi
• Hoʻomaʻamaʻa no Congenital Myasthenia
• Hiki ke hoʻōla i ka myasthenia kongenital?

ʻO ka Congenital Myasthenia kahi maʻi e pili ana i ka hui neuromuscular a no laila ke kumu o ka nāwaliwali o nā mākala holomua, alakaʻi pinepine i ke kanaka e hele i kahi noho huila. Hiki ke ʻike ʻia kēia maʻi i ka wā ʻōpio a i ʻole ke makua ʻana a kaukaʻi ʻia i ke ʻano o ka loli i loaʻa i ke kanaka, hiki ke hoʻōla ʻia me ka hoʻohana ʻana o nā lāʻau.

Ma waho aʻe o nā lāʻau i hōʻike ʻia e ka neurologist, koi ʻia ka physiotherapy e hoʻōla i ka ikaika o nā mākala a hoʻohui i nā neʻe, akā hiki i ke kanaka ke hele maʻamau hou, me ka ʻole o ka noho huila a me nā koʻokoʻo.

ʻAʻole like ka myasthenia Congenital me ka myasthenia gravis no ka mea ma ka hihia o Myasthenia Gravis ke kumu e loli ai ka ʻōnaehana pale o ke kanaka, ʻoiai ma ka myasthenia kūpuna ke kumu he mutation genetic, ka mea pinepine i nā poʻe i ka ʻohana like.

Nā Hōʻailona o Congenital Myasthenia

Hōʻike pinepine ʻia nā ʻōuli o Congenital Myasthenia i nā pēpē a i ʻole ma waena o 3 a me 7 mau makahiki o ka makahiki, akā ʻike ʻia kekahi ʻano ma waena o 20 a 40 mau makahiki, a hiki i:

I ka pēpē:

• Ka paʻakikī i ka hānai ʻana i ka waiū a i ʻole ka hānai ʻōmole, maʻalahi a me ka ikaika iki e omo;
• Hypotonia e hōʻike iā ia iho ma o ka nāwaliwali o nā lima a me nā wāwae;
• ʻŌniu maka eyelid;
• ʻO nāʻaelike hoʻohui (arthrogryposis congenital);
• Hoʻohaʻahaʻa helehelena;
• Ka hanu paʻakikī a me ka manamana lima a me nā lehelehe;
• Hoʻolālā hoʻolālā e noho, kolo a hele wāwae;
• He paʻakikī paha i nā keiki makua ke piʻi i ke alapiʻi.

I nā keiki, ʻōpio a i ʻole nā ​​mākua:

• Ka nāwaliwali i nā wāwae a i ʻole nā ​​lima me ke kani tingling;
• Hele ka paʻakikī me ka pono e noho i lalo e hoʻomaha;
• Loaʻa paha ka nāwaliwali i nā mākala o ka maka e hāʻule i ka lihilihi;
• Ka luhi ke hana i nā hana liʻiliʻi;
• Aia paha he scoliosis ma ka iwi kuamoo.

Aia he 4 ʻano ʻokoʻa o ka myasthenia hikiwawe: ke ala lohi, ke kahawai wikiwiki haʻahaʻa, ka hemahema AChR nui a me ka hemahema AChE. Ma muli o ka hiki ke hōʻike ʻia myasthenia lohi lohi ma waena o 20 a 30 mau makahiki. He ʻano ponoʻī ko kēlā me kēia ʻano a ʻokoʻa hoʻi ka mālama ʻana mai kekahi kanaka a i kekahi no ka mea ʻaʻole like nā ʻōuli āpau.

Pehea e hana ʻia ai ke kuhi

Pono e hoʻokumu ʻia ke kuhi o ka Congenital Myasthenia e pili ana i nā ʻōuli i hōʻike ʻia a hiki ke hōʻoia ʻia e nā hoʻokolohua e like me ka hoʻokolohua ʻana o ke koko a me nā hoʻokolohua genetic, nā hōʻoia antibody e hōʻoia ʻaʻole ia ʻo Myasthenia Gravis, a me kahi electromyography e nānā ana i ka maikaʻi o ka pāʻina ʻana. Muscle, ʻo kahi laʻana.

I nā keiki makua, ʻōpio a me nā mākua, hiki i ke kauka a i ʻole physiotherapist ke hana i kekahi mau hoʻokolohua ma ke keʻena e ʻike i ka nāwaliwali o nā mākala, e like me:

• E nānā i ke kaupaku no 2 mau minuke, hoʻopaʻa a nānā inā aia ke kaumaha o ka paʻakikī i ka mālama ʻana i nā lihilihi maka.
• E hāpai i kou mau lima i mua, a hiki i ke kiʻekiʻe o ka poʻohiwi, e paʻa ana i kēia kūlana no 2 mau minuke a ʻike inā hiki ke mālama i kēia contraction a i ʻole inā hāʻule kou mau lima;
• E hoʻokiʻekiʻe i ke kīʻaha me ke kōkua ʻole o kou mau lima ma mua o 1 manawa a hāpai paha mai ka noho ma mua o 2 mau manawa e ʻike ai inā ʻoi aku ka paʻakikī o ka hana ʻana i kēia mau neʻe.

Inā ʻike ʻia ka nāwaliwali o nā mākala a paʻakikī e hana i kēia mau hoʻokolohua, aia paha he nāwaliwali nā mākala ākea, e hōʻike ana i kahi maʻi e like me myasthenia.

I mea e loiloi ai i ka hopena o ka ʻōlelo, hiki iā ʻoe ke noi i ke kanaka e ʻōlelo i nā helu mai ka 1 a i ka 100 a nānā inā aia kahi hoʻololi o ke kani o ka leo, ka leo ʻole a i ʻole ka hoʻonui ʻana o ka manawa ma waena o ka helu o kēlā me kēia helu.

Hoʻomaʻamaʻa no Congenital Myasthenia

Hoʻololi nā mālama ʻana e like me ke ʻano o ka myasthenia hānau i loaʻa i ke kanaka akā i kekahi mau hanana e like me nā mea kāohi acetylcholinesterase, Quinidine, Fluoxetine, Ephedrine a me Salbutamol e hōʻike ʻia ma lalo o ka ʻōlelo a ka neuropediatrician a i ʻole neurologist. Hōʻike ʻia ka Physiotherapy a hiki ke kōkua i ke kanaka e noʻonoʻo maikaʻi, e hakakā ana i ka nāwaliwali o nā mākala a hoʻomaikaʻi i ka hanu ʻana, akā ʻaʻole ia e maikaʻi me ka ʻole o nā lāʻau.

Hiki i nā keiki ke hiamoe me kahi mask oxygen i kapa ʻia ʻo CPAP a pono i nā mākua e aʻo e hoʻolako i ke kōkua mua inā loaʻa ka hanu i ka hanu.

I ka physiotherapy pono ka isometric i nā hoʻoikaika kino a he mau repetitions kā lākou akā pono lākou e uhi i nā hui muscle, e like me nā hanu hanu a pono nui e hoʻonui i ka nui o ka mitochondria, nā mākala, nā capillaries a hoʻēmi i ka nui o ka lactate, me ka liʻiliʻi o ka cramp.

Hiki ke hoʻōla i ka myasthenia kongenital?

I ka hapanui o nā hihia, ʻaʻole hiki ke hoʻōla ʻia ka myasthenia hānau, e koi ana i ka lāʻau no ke ola. Eia nō naʻe, kōkua nā lāʻau a me ka physiotherapy e hoʻomaikaʻi i ke ola o ke kanaka, e hakakā i ka luhi a me nā nāwaliwali o nā mākala a pale i nā pilikia e like me ke atrophy o nā lima a me nā wāwae a me ke ʻeha e hiki ke ala aʻe inā hanu ka hanu, ʻo ia ke kumu, pono ke ola.

ʻO nā kānaka me ka Congenital Myasthenia i hoʻokumu ʻia e kahi kīnā ma ka gen DOK7 hiki ke hoʻomaikaʻi maikaʻi i ko lākou kūlana, a hiki ke "hoola ʻia" me ka hoʻohana ʻana i kahi lāʻau i hoʻohana pinepine ʻia e kūʻē i ka hānō, salbutamol, akā i ke ʻano o nā papa a i ʻole nā ​​lozenges. Eia nō naʻe, pono paha ʻoe e hana sporadically i ka hoʻoikaika kino kino.

Ke loaʻa ka Congenital Myasthenia a hana ʻole i ka lāʻau, e lilo lākou i ka ikaika i nā mākala, lilo i atrophied, pono e noho moe a make paha i ka hanu ʻole o ka hanu a no laila he mea nui ka lapaʻau a me ka physiotherapeutic lapaʻau no ka mea hiki i nā mea ʻelua ke hoʻomaikaʻi. ke ola o ke kanaka a hoʻolōʻihi i ke ola.

ʻO kekahi mau lāʻau e hōʻino ai i ke ʻano o ka Congenital Myasthenia ʻo Ciprofloxacin, Chloroquine, Procaine, Lithium, Phenytoin, Beta-blockers, Procainamide a me Quinidine a no laila e hoʻohana wale ʻia nā lāʻau āpau ma lalo o ka ʻōlelo aʻoaʻo lapaʻau ma hope o ka ʻike ʻana i ke ʻano o ke kanaka.