He aha ka Spinal Muscular Atrophy, nā hōʻailona nui a me ka lāʻau

Anter

• Nā hōʻailona nui
• ʻAno I - maʻi maʻi a Werdnig-Hoffmann paha
• ʻAno II - waena a mau paha
• ʻAno III - akahai, ʻōpio a i ʻole maʻi Kugelberg-Welander
• ʻAno IV - makua
• Pehea e hōʻoia ai i ke kuhi
• Pehea e hana ai i ka lāʻau
• 1. Lapaʻau hoʻōla kino
• 2. Hoʻohana o nā pono hana a me ka hoʻomaʻamaʻa hana
• 3. ʻAi kūpono
• Nā koho lapaʻau ʻē aʻe
• He aha ke kumu o ka atrophy muscle

ʻO ka atrophy muscular muscular kahi maʻi maʻi laha ʻole e hoʻopili i nā hunaola nerve i ka iwi kuamoʻo, ke kuleana no ka lawe ʻana i nā stimulus uila mai ka lolo i nā mākala, ka mea e pilikia ai ke kanaka a i ʻole hiki ʻole ke neʻe i nā mākala me ka manawaleʻa ʻole.

He koʻikoʻi kēia maʻi a kumu i ka atrophy a me ka nāwaliwali o nā mākala holomua. I ka manawa mua hiki i nā ʻōuli ke hoʻopili i nā wāwae wale nō, akā a laila hoʻomaka ka maʻi e hoʻopili i nā lima, a ʻo ka hope loa nā mākala o ke kumu.

ʻOiai ʻaʻohe lāʻau lapaʻau no ka atrophy muscular atrophy, hiki ke hana i ka lapaʻau e hoʻopaneʻe i ka ulu ʻana o ka maʻi a hoʻomaikaʻi i ke ʻano o ke ola, e ʻae ana i ke kanaka e noho kūʻokoʻa no ka manawa lōʻihi.

Nā hōʻailona nui

Hoʻololi nā ʻōuli o ke atrophy muscular atrophy i ka ʻano o ka maʻi.

ʻAno I - maʻi maʻi a Werdnig-Hoffmann paha

He ʻano koʻikoʻi ia o ka maʻi i hiki ke ʻike ʻia ma waena o 0 a me 6 mau mahina o ke ola, no ka mea e pili ana i ka ulu maʻamau o ka pēpē, e alakaʻi ana i ka paʻakikī e paʻa i ke poʻo a i ʻole ke noho ʻana me ke kākoʻo ʻole. Eia kekahi, ʻo ka paʻakikī i ka hanu ʻana a me ka ale ʻana he mea maʻamau pū kekahi. Ma mua o 1 mau makahiki, ʻaʻole hiki i ka pēpē ke ale a hānai a me nā pilikia hanu e pono ai, e koi ana i ka haukapila.

ʻO nā pēpē i ʻike ʻia me ka atrophy muscular atrophy koʻikoʻi he mau makahiki wale nō ia, a i kekahi manawa ʻaʻole hoʻopau i ka makahiki 2, akā ua hoʻonui nā mālama kiʻekiʻe i ke ola o ke ola.

ʻAno II - waena a mau paha

ʻO ka maʻa mau ke ʻike ʻia nā ʻōuli ma waena o 6 a 18 mau mahina a pākuʻi i ka noho ʻana, kū a me ka hele hoʻokahi ʻana. Hiki i kekahi mau pēpē ke kū me ke kākoʻo, akā ʻaʻole hiki ke hele wāwae, pilikia paha i ka loaʻa ʻana o ke kaumaha a paʻakikī i ka ʻeha, me ka nui o nā maʻi hanu. Eia kekahi, he haʻalulu maikaʻi maikaʻi kā lākou a he scoliosis paha.

Hoʻololi ka manaʻo o ke ola ma waena o 10 a 40 mau makahiki, ke kaukaʻi ʻia i nā maʻi ʻē aʻe e noho ana, a me ke ʻano o ka mālama ʻia.

ʻAno III - akahai, ʻōpio a i ʻole maʻi Kugelberg-Welander

Mālamalama kēia ʻano a ulu ma waena o ka wā kamaliʻi a me ka ʻōpio a, ʻoiai ʻaʻole ia he kumu e hele a kū paha ka paʻakikī, keakea ia i nā hana ʻoi aku ka paʻakikī e like me ka piʻi ʻana a i ʻole ke iho ʻana i nā ʻanuʻu. Hiki ke hele a paʻakikī kēia paʻakikī, a hiki i ka manawa e pono ai e hoʻohana i kahi noho huila. Hoʻokaʻawale hou ʻia ʻo ia:

• ʻano 3: hoʻomaka o ka maʻi ma mua o ka makahiki 3, hiki ke hele a hiki i ka makahiki 20;
• ʻano 3b: ka helehelena ma hope o 3 mau makahiki, ka mea hiki ke hoʻomau i ka hele wāwae no ke ola.

I ka hala ʻana o ka manawa, loaʻa paha i ke kanaka ka scoliosis a me kona mau makahiki ke ola palena ʻole, noho kokoke i ka maʻamau.

ʻAno IV - makua

ʻAʻohe manaʻo kuʻikahi e pili ana i ka manawa e ʻike ʻia ai, ʻōlelo kekahi mau kānaka noiʻi aia paha ia ma kahi o 10 mau makahiki, a ʻo kekahi e ʻōlelo ana ma kahi o 30 mau makahiki. I kēia hihia, ʻaʻole koʻikoʻi loa ka nalowale kaʻa, ʻaʻohe mea nui e ale ʻia a me nā ʻōnaehana hanu. No laila, aia nā ʻōuli milder e like me ka haʻalulu o nā lima a me nā wāwae, a he mea maʻamau ke kali ʻana o ke ola.

Pehea e hōʻoia ai i ke kuhi

ʻAʻole maʻalahi ka hōʻailona a me ka hoʻomaka ʻana o nā ʻōuli ke kuhi paha ke kauka a kauka pediatrician paha i kahi maʻi o nā maʻi e pili ana i ka ʻōnaehana kaʻa, a me ka atrophy muscular atrophy. No kēia kumu, kauoha paha ke kauka i kekahi mau hoʻokolohua e kāpae i nā kuhiakau ʻē aʻe, e like me ka electromyography, ka biopsy muso a me ka hoʻokalakupua molekino.

Pehea e hana ai i ka lāʻau

Hana ʻia ka mālama ʻana i ka atrophy muscular muscular e kāohi ai i nā ʻōuli a hoʻomaikaʻi i ke ola o ke kanaka, no ka mea, ʻaʻole hiki ke hoʻōla i ka loli i hoʻohuli ʻia i ka maʻi.

No ka hoʻomaʻamaʻa maikaʻi loa ʻana, pono i kahi hui o nā ʻoihana olakino, e like me orthopedists, physiotherapists, nurses, nutrisyists a me therapists ʻoihana hana, e like me nā pilikia a me nā palena o kēlā me kēia kanaka.

ʻO nā ʻano nui o ka mālama ʻana i hoʻohana ʻia:

1. Lapaʻau hoʻōla kino

He mea nui ka Physiotherapy no nā hihia āpau o ka atrophy muscle, no ka mea e ʻae ia e mālama i ke kahe o ke koko, pale i ka paʻa o ka ami, hoʻoliʻiliʻi i ka nalo ʻana o nā mākala a hoʻomaikaʻi i ka maʻalahi.

Ke hāpai nei i nā kaupaona, ke hana nei i nā hana me nā paukū a i ʻole ka hoʻomaʻamaʻa ʻana i nā hoʻomaʻamaʻa hoʻomaʻamaʻa kino kekahi mau hiʻohiʻona o ka mea hiki ke hana inā he atrophy muscular. Akā, pono e alakaʻi ʻia kēia mau hana e ka physiotherapist ma kahi keʻena physiotherapy, no ka laʻana, no ka mea he ʻokoʻa e like me ka palena o kēlā me kēia.

Hoʻohui ʻia, hiki ke hoʻohana ʻia nā hāme uila e hoʻolaulaha i ka hoʻoneʻe ʻana o nā mākala, e like me ka hihia me ke au Lūkini, kahi koho maikaʻi loa e hoʻopiha ai i ka lāʻau.

2. Hoʻohana o nā pono hana a me ka hoʻomaʻamaʻa hana

ʻO kahi ʻoihana ʻoihana he koho maikaʻi loa e hoʻonui i ka maikaʻi o ke ola i nā hihia kahi paʻakikī i ka neʻe ʻana a i ʻole ka hana ʻana i nā hana maʻalahi o kēlā me kēia lā, e like me ka ʻai ʻana a me ka hele wāwae paha, no ka laʻana.

ʻO kēia no ka mea, i nā kau ʻana ʻoihana hana, kōkua ka mea ʻoihana i ke kanaka e hoʻohana i kekahi pono kōkua, e like me ka mea ʻoki kūikawā a i ʻole kahi noho huila, e ʻae iā lākou e hana i nā hana like, ʻoiai ke kau palena ʻia ka maʻi.

3. ʻAi kūpono

He mea nui ka meaʻai kūpono e hōʻoia i ka ulu ʻana o ka poʻe i ʻeha i ka atrophy muscular, keu hoʻi i ka hihia o nā keiki. Eia nō naʻe, paʻakikī ka hapanui i ka nau ʻana a me ka ale ʻana paha, no ka laʻana, a i kēia mau hihia, hiki i ka mea hānai ke hōʻike i nā meaʻai maikaʻi a me nā mea hoʻopiha e kū i nā pono āpau o ke kino.

Hoʻohui ʻia, i nā manawa he nui, pono paha e hoʻohana i kahi paipu hānai a i ʻole kahi paipu liʻiliʻi e hoʻopili ana i ka ʻōpū i ka ʻili o ka ʻōpū, e ʻae iā ʻoe e hānai me ka ʻole o ka nau a ale paha. E ʻike pehea e hoʻohana ai a mālama ai i ka ʻimi ʻai.

Nā koho lapaʻau ʻē aʻe

Ma waho aʻe o nā hana lapaʻau ma mua, pono paha nā ʻano lapaʻau ʻē aʻe, e like me nā ʻōuli a me nā palena o kēlā me kēia kanaka. ʻO kahi laʻana, i nā hihia kahi e hoʻopili ai i nā mākau hanu, pono paha e hoʻohana i nā mea hanu e hoʻoikaika i ka ea i loko o nā akemāne, e hoʻololi i nā mākala.

I nā keiki me nā pilikia o ka mākala ma kahi o ka iwi kuamoʻo, pono paha e ʻoki poepoe e hoʻoponopono i ka scoliosis, ʻoiai ʻo ke kaulike ʻole o ka ikaika o nā mākala e hiki ai i ke kuamoʻo e ulu kūpono ʻole ana.

ʻO kahi lāʻau lapaʻau hou ka hoʻohana ʻana i ka lāʻau Spinraza, i ʻae ʻia i ʻAmelika Hui Pū ʻIa a hoʻohiki e hōʻemi i nā ʻōuli o ke atrophy i hoʻohuli ʻia e ka SMN-1 gen. Hoʻomaopopo i ke ʻano o Spinraza a pehea e hana ai.

Hana pinepine ʻia ka mālama ʻana no ka atrophy muscular muscular me ka hoʻohana ʻana o ka lāʻau, nā meaʻai kūikawā a me ka hoʻoikaika kino.

He aha ke kumu o ka atrophy muscle

Hoʻokumu ʻia ka atrophy musinalular muscular e kahi hoʻololi genetic ma chromosome 5 e kumu i ka ʻole o kahi protein, i ʻike ʻia Ola Motor Neuron-1 (SMN1), mea nui no ka hana pololei ʻana o nā mākala. Aia kekahi mau hihia rarer kahi e kū ai ka loli i nā genes ʻē aʻe e pili pū ana i ka neʻe manawaleʻa ʻana o nā mākala.