Spinal Muscular Atrophy

Anter

• Hōʻuluʻulu Manaʻo
• He aha ka atrophy muscular musophy (SMA)?
• He aha nā ʻano o ka atrophy muscular atrophy (SMA) a he aha nā hōʻailona o lākou?
• He aha ke kumu o ke atrophy muscular atrophy (SMA)?
• Pehea e ʻike ʻia ai ka atrophy muscular atrophy (SMA)?
• He aha nā ʻano lāʻau no ka atrophy muscular atrophy (SMA)?

Hōʻuluʻulu Manaʻo

He aha ka atrophy muscular musophy (SMA)?

ʻO ka atrophy musinalular atrinal (SMA) kahi hui o nā maʻi genetics e hōʻino a pepehi i nā neurons kaʻa. ʻO nā neurons moto kahi ʻano o nā aʻa aʻa i loko o ka iwi kuamoo a me ka ʻaoʻao haʻahaʻa o ka lolo. Kaohi lākou i ka neʻe ʻana i kou mau lima, nā wāwae, ka maka, ka umauma, ka ʻāʻī, a me ke alelo.

I ka make ʻana o nā neurons kaʻa, hoʻomaka kou nāʻiʻo e nāwaliwali a hoʻoneʻe (neoneo). Hele a māino ka ʻino o ka mākala ma ka holo ʻana o ka manawa a hiki ke hoʻopili i ka ʻōlelo ʻana, ka hele wāwae, ʻānai ʻana, a me ka hanu ʻana.

He aha nā ʻano o ka atrophy muscular atrophy (SMA) a he aha nā hōʻailona o lākou?

Aia nā ʻano like ʻole o SMA. Hoʻokumu ʻia lākou i ke ʻano o ka maʻi a i ka wā e hoʻomaka ai nā ʻōuli.

• ʻAno l ua kapa ʻia ʻo Werdnig-Hoffman maʻi a i ʻole SMA ke hoʻomaka keiki ʻana. ʻO ia ka ʻano ʻoi loa. ʻO ia ka mea maʻamau. Hōʻike pinepine nā pēpē me kēia ʻano i nā hōʻailona o ka maʻi ma mua o 6 mau makahiki o ka makahiki. I nā hihia ʻoi loa, hōʻike ʻia nā hōʻailona ma mua a ma hope paha o ka hānau ʻana (ʻAno 0 a 1A). Pilikia paha nā pēpē i ka ale ʻana a me ka hanu ʻana a ʻaʻole hoʻi e neʻe a puni. Loaʻa iā lākou ka hoʻopōkole pinepine ʻana o nā mākala a i ʻole nā ​​tendons (i kapa ʻia he ʻaelike). ʻAʻole hiki iā lākou ke noho me ke kōkua ʻole. Me ka mālama ʻole ʻia, make nā keiki he nui me kēia ʻano ma mua o 2 mau makahiki.
• ʻAno ll he ʻano kaulike a paʻakikī paha o SMA. ʻIke pinepine ia ma waena o 6 a me 18 mau makahiki o ka makahiki. Hiki i ka hapa nui o nā keiki me kēia ʻano ke noho me ke kākoʻo ʻole akā ʻaʻole hiki ke kū a hele wāwae paha me ke kōkua ʻole. Pilikia paha lākou i ka hanu ʻana. Hiki iā lākou ke noho maʻamau i ka wā ʻōpio a i ʻole ke ʻano ʻōpio ʻōpio.
• ʻAno lll ua kapa ʻia ʻo Kugelberg-Welander maʻi. ʻO ia ka ʻano akahai e hoʻopili i nā keiki. Hōʻike pinepine ʻia nā ʻōuli o ka maʻi ma hope o ka piha ʻana o nā makahiki 18. Hiki i nā keiki me kēia ʻano ke hele wāwae iā lākou iho akā loaʻa paha iā lākou ka pilikia i ka holo ʻana, e ala aʻe ana mai kahi noho, a i ka piʻi ʻana paha i nā ʻanuʻu. Loaʻa iā lākou kekahi scoliosis (curvature o ka spine), nā ʻaelike, a me nā maʻi hanu.Me ka mālama ʻana, loaʻa i ka hapa nui o nā keiki me kēia ʻano ke ola maʻamau.
• ʻAno IV laha ʻole a ʻoluʻolu pinepine hoʻi. Hoʻokumu pinepine ia i nā hōʻailona ma hope o 21 mau makahiki. Hoʻopili nā ʻōuli me ka palupalu i ka nāwaliwali o ka ʻūhā o ka wāwae, haʻalulu, a me nā pilikia hanu ʻoluʻolu. Lōʻihi ka hōʻino o nā ʻōuli ma mua o ka manawa. Loaʻa i nā poʻe me kēia ʻano SMA ka lōʻihi o ke ola.

He aha ke kumu o ke atrophy muscular atrophy (SMA)?

Hoʻokumu ʻia ka hapa nui o nā SMA e ka hoʻololi o ka moʻokūʻauhau SMN1. He kuleana ko kēia ʻaoʻao no ka hana ʻana i kahi protein e pono ai nā kaʻa neurons ke ola a me ka hana. Akā i ka nalo ʻana o kahi ʻāpana o ka ʻāpana SMN1 a i ʻole kūpono ʻole paha, ʻaʻole lawa ka protein no nā neurons kaʻa. ʻO kēia ke kumu e make ai nā neurons kaʻa.

ʻO ka hapanui o nā kānaka he ʻelua kope o ka moʻokūʻauhau SM1 - hoʻokahi mai kēlā me kēia mākua. Kū wale ka SMA ke hoʻololi ʻia ka ʻaoʻao o nā kope ʻelua. Inā hoʻokahi wale nō kope i loaʻa ka loli, ʻaʻole maʻa mau nā ʻōuli. Akā hiki ke hoʻoili ʻia kēlā ʻaoʻao mai ka makua a ke keiki.

Hoʻokumu ʻia kekahi o nā ʻano liʻiliʻi o ka SMA e nā loli i nā genes ʻē aʻe.

Pehea e ʻike ʻia ai ka atrophy muscular atrophy (SMA)?

E hoʻohana paha kāu mea mālama ola i nā pono hana he nui e ʻike pono iā SMA:

• He hoʻāʻo kino
• ʻO kahi moʻolelo olakino, me ka nīnau ʻana e pili ana i ka mōʻaukala ʻohana
• Ke hoʻāʻo nei i nā genetic e nānā no nā loli kūʻē i kumu iā SMA
• Hiki ke hana ʻia nā haʻawina electromyography a me nā nerve conduction a me kahi biopsy muso, keu hoʻi inā ʻaʻole i loaʻa nā loli

Makemake paha nā mākua i loaʻa ka moʻolelo o ka ʻohana o SMA e hana i kahi hōʻike prenatal e nānā ai inā paha he loli SMN1 kā lākou pēpē. ʻO kahi amniocentesis a i ʻole i kekahi mau hihia kahi chorionic villi sampling (CVS) i hoʻohana ʻia e kiʻi i kahi hāpana no ka hoʻāʻo ʻana.

I kekahi mau mokuʻāina, ʻo ka hoʻāʻo genetic no SMA kahi ʻāpana o nā hoʻokolohua loiloi hānau hānau hou.

He aha nā ʻano lāʻau no ka atrophy muscular atrophy (SMA)?

ʻAʻohe mea ola no SMA. Hiki i nā mālama ke kōkua i ka mālama ʻana i nā ʻōuli a pale i nā pilikia. Pākuʻi paha lākou

• ʻO nā lāʻau e kōkua i ke kino e hana hou i nā protein i makemake ʻia e nā neurons kaʻa
• ʻO ka gen therapy no nā keiki ma lalo o 2 mau makahiki
• ʻO ke olakino, ʻoihana, a me ka hoʻōla rehabilitation e kōkua i ka hoʻomaikaʻi ʻana i ke kūlana a me ka neʻe o nā hono. Hiki i kēia mau hoʻoponopono ke hoʻomaikaʻi i ke kahe o ke koko a hoʻolōʻihi i ka nāwaliwali o nā mākala a me ke atrophy. Pono paha kekahi poʻe i ka lāʻau no ka pilikia i ka ʻōlelo ʻana, ka nau ʻana, a me ka ale ʻana.
• Nā hāmeʻa kōkua e like me ke kākoʻo a i ke kākoʻo paha, nā orthotics, nā synthesizer ʻōlelo, a me nā noho huila e kōkua i ka poʻe e noho kūʻokoʻa hou aʻe.
• ʻO ka meaʻai maikaʻi a me ka papaʻai kaulike e kōkua i ka mālama ʻana i ke kaupaona a me ka ikaika. Pono paha i kekahi poʻe i kahi pūʻai hānai i mea e loaʻa ai ka meaʻai e pono ai.
• Kākoʻo hanu no ka poʻe i nāwaliwali i ka ʻāʻī, ka ʻāʻī, a me ka umauma. Pākuʻi paha ke kākoʻo i nā hāmeʻa e kōkua i ka hanu ʻana i ka lā a pale i ka hiamoe hiamoe i ka pō. Pono paha kekahi poʻe e noho i ka ea.

NIH: National Institute of Neurological Disorder a me ka hahau