He aha ka Spinal Muscular Atrophy (SMA)? E kamaʻilio kākou e pili ana i kēia maʻi laha ʻole ma nā ʻōlelo maʻalahi.

Ua manaʻo paha ʻoe ua palaualelo iki kāu keiki liʻiliʻi, a emi iki paha ka hana ma mua o nā keiki ʻē aʻe? Malia paha he paʻakikī i kāu keiki ke paʻa pono i ko lākou ʻāʻī, a i ʻole ua like ko lākou kino me he mea lā ua wehe ʻia? He mea maʻamau no ka makua a makua paha ke makaʻu i ka wā e ʻike ai lākou i kahi mea e like me kēia. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi laha ʻole e hiki ai ke hoʻoulu i kēia mau hōʻailona, ​​​​akā ʻaʻole i kamaʻilio nui ʻia i loko o ke kaiāulu. ʻO ia ka Spinal Muscular Atrophy, a i ʻole SMA no ka pōkole. Mai makaʻu i kou lohe ʻana i kēia inoa. Ma kēia ʻatikala, e kamaʻilio maʻalahi mākou e pili ana i kēia maʻi, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha maoli ka SMA?

I ka ʻōlelo maʻalahi, ʻo ka Spinal Muscular Atrophy (SMA) he maʻi genetic (hoʻoilina). He maʻi ia e pili ana i ka ʻōnaehana nerve. Ma muli o kēia maʻi, nāwaliwali mālie kekahi o nā ʻiʻo i loko o ko kākou kino a me ka atrophy. E like me kahi mea hana i hoʻohana ʻole ʻia e popo mālie.

E wehewehe iki kākou i kēia. Hoʻouna ko kākou lolo a me ke kaula kuamoʻo i nā leka i nā ʻiʻo o ko kākou kino e haʻi ana iā lākou e neʻe. Lawe ʻia kēia mau leka e kahi ʻano kūikawā o ke kelepona nerve e hana ana e like me ke kaula uila. Kāhea mākou i kēia mau neurons motor haʻahaʻa . ʻO ka mea e hana ʻia ma SMA, ua luku mālie ʻia kēia mau neurons motor. A laila ʻaʻole i loaʻa pono ka leka mai ka lolo i nā ʻiʻo e "neʻe". Ke loaʻa ʻole ka leka, lilo nā ʻiʻo i mea hana ʻole a nāwaliwali mālie.

I kēia maʻi, ua nāwaliwali loa nā ʻiʻo kokoke loa i ke kikowaena o ke kino (nā ʻiʻo proximal). No ka laʻana, nā wahi e like me nā poʻohiwi, nā pūhaka, a me nā ʻūhā. ʻAʻole i hoʻopilikia nui ʻia nā ʻiʻo mamao aku mai ke kikowaena o ke kino (nā ʻiʻo distal), e like me nā manamana lima. Hoʻonui kēia nāwaliwali i ka hala ʻana o ka manawa.

He aha nā ʻano nui o SMA?

ʻAʻole like nā ʻano āpau o SMA. Hoʻokaʻawale nā ​​kauka iā ia i ʻelima mau ʻano nui e pili ana i ka makahiki e hoʻomaka ai nā hōʻailona, ​​​​ke koʻikoʻi o ka maʻi, a me ke ola. ʻO ka hoʻomaopopo ʻana i kēia hoʻokaʻawale ʻana e hiki ke kōkua iā ʻoe e hoʻomaopopo maikaʻi i ka maʻi.

No ke aha e loaʻa ai kēia maʻi SMA? He aha ke kumu?

E like me kā mākou i ʻōlelo ai ma mua, he maʻi hoʻoilina kēia. ʻO ia hoʻi, ua hana ʻia e kahi kīnā i loko o kā mākou mau genes.

Aia kekahi gene i loko o ko kākou kino i kapa ʻia ʻo SMN1 (Survivor Motor Neuron 1) . ʻO ka hana nui o kēia gene, ʻo ia ka hana ʻana i kahi protein (SMN protein) he mea nui no ke ola ʻana o nā neurons motor a kākou i kamaʻilio ai ma mua. Loaʻa i ke kanaka me SMA kahi mutation a kīnā paha i kēia gene SMN1. No laila, ʻaʻole lawa ka protein SMN i ke kino. Me ka ʻole o kēia protein, ʻaʻole hiki i nā neurons motor ke ola. E emi mālie lākou a make.

No laila he aha ka gene SMN2?

ʻO ka mea pōmaikaʻi, he ʻano ʻē aʻe ko ko kākou kino e like me ka ʻano SMN1. ʻO ia ka ʻano SMN2 . Ua like kēia me kahi 'kope' o ka ʻano SMN1. Eia naʻe, ʻo kēia ʻano SMN2 e hana wale i kahi liʻiliʻi loa o ka protein SMN.

Hoʻoholo ʻia ke koʻikoʻi o ka maʻi e ka helu o nā kope o ka gene SMN2. ʻO ka nui o nā kope o ka gene SMN2 i loaʻa i ke kanaka, ʻo ka nui o ka protein SMN e hana ai ke kino. No laila, ʻoiai inā ʻaʻole hana ka gene SMN1, hiki ke hoʻoponopono ʻia ka hemahema i kekahi ʻano. No laila, ʻoi aku ka mālie o nā hōʻailona o ka poʻe me nā kope he nui o SMN2.

Pehea e hoʻoilina ai kēia maʻi i kahi keiki?

Ua hoʻoilina ʻia kēia ma ke ʻano autosomal recessive . ʻO ke ʻano kēia, i mea e loaʻa ai i kahi keiki kēia maʻi, pono i ka makuahine a me ka makuakāne ke hoʻoilina i ka gene SMN1 hemahema.

I ka manawa pinepine, he "mea lawe" nā mākua ʻelua - e lawe ana i hoʻokahi kope o ka gene kīnā. Akā, ʻaʻohe o lākou hōʻailona no ka mea he hoʻokahi gene SMN1 maikaʻi kā lākou. Ke loaʻa i ʻelua mau mākua lawe he keiki,

• Aia he 25% ka manawa e loaʻa ai i ke keiki ka maʻi.
• Aia he 50% ka manawa e lilo ai ke keiki i mea lawe.
• He 25% ka manawa kūpono o ke pēpē e olakino me ke kīnā ʻole.

Pehea e ʻike ʻia ai ka SMA?

Inā kānalua ʻia kāu keiki he SMA, e nīnau mua ke kauka iā ʻoe e pili ana i nā hōʻailona o kāu keiki a me ka mōʻaukala olakino ʻohana. A laila e hana lākou i kahi hoʻokolokolo kino a me ka neurological.

ʻO ka hoʻāʻo nui e hōʻoia i ke alo o SMA, ʻo ia ka hoʻāʻo ʻana i ka genetics. He hoʻāʻo koko maʻalahi kēia. Hiki iā ia ke ʻike pololei i ka SMA i 95% o ka manawa. Ma nā ʻāina i hoʻomohala ʻia, ua hoʻāʻo ʻia nā pēpē hānau hou a pau no kēia maʻi.

I kekahi manawa hiki ke like nā hōʻailona o SMA me nā maʻi neuromuscular ʻē aʻe, e like me ka muscular dystrophy. No laila, inā ʻaʻole kānalua koke kāu kauka iā SMA, hiki iā lākou ke kauoha i nā hoʻokolohua ʻē aʻe e ʻike i ke kumu, e like me:

• Hoʻāʻo koko Creatine Kinase (CK): Hōʻiliʻili kēia enzyme i loko o ke koko ke hōʻino ʻia nā ʻiʻo. Eia nō naʻe, ʻaʻole i kiʻekiʻe pinepine ʻia nā pae CK ma SMA.
• ʻO ke aʻo ʻana i ka Electromyogram (EMG) a me ke alakaʻi ʻana o nā aʻalolo:Ke ana kēia mau hoʻokolohua i ka hana uila o nā ʻiʻo a me nā aʻalolo.
• Biopsy ʻIʻo: ʻAʻole hana pinepine ʻia kēia i kēia manawa. Maanei, lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻiʻo a nānā ʻia.

Hiki ke ʻike ʻia kēia i ka wā hāpai?

ʻAe. Inā loaʻa i kekahi o kou ʻohana ka SMA, hiki iā ʻoe ke hoʻāʻo i kāu pēpē i hānau ʻole ʻia no ka maʻi i ka wā hāpai. ʻElua mau hoʻāʻo nui:

1. Amniocentesis: Ma kēia kaʻina hana, lawe ʻia kahi liʻiliʻi o ka wai amniotic e hoʻopuni ana i ka pēpē i loko o ka ʻōpū me kahi syringe a hoʻokomo ʻia i ka hoʻāʻo genetic.

2. Chorionic Villus Sampling (CVS): Maanei, lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻiʻo mai ka placenta a nānā ʻia.

He aha nā lāʻau lapaʻau no SMA?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no SMA i kēia manawa. Akā, mai hopohopo. Nui nā mea hiki iā ʻoe ke hana e kāohi i nā hōʻailona, ​​​​pale i nā pilikia, a maʻalahi ke ola o kāu keiki. Eia kekahi, ua ʻike ʻia kekahi mau lāʻau lapaʻau maikaʻi loa i hiki ke hoʻololi i ke ala o ka maʻi.

Hiki ke puʻunaue ʻia ka lāʻau lapaʻau i ʻelua ʻāpana nui:

1. Ka mālama ʻana i nā hōʻailona a me ka mālama kākoʻo

Ua hana ʻia kēia mau mea e hōʻemi i ka ʻoluʻolu ʻole i hoʻokumu ʻia e ka maʻi a kōkua i ke keiki e ola i ke ola maikaʻi loa.

• Hoʻōla kino: Kōkua i ka mālama ʻana i ke kūlana pololei, pale i ka ʻoʻoleʻa o nā hono, a hoʻolohi i ka nāwaliwali o nā ʻiʻo.
• Hoʻōla hana: Kōkua i ke keiki e hana i nā hana o kēlā me kēia lā me ke kūʻokoʻa.
• Nā mea kōkua: Pono paha ʻoe e hoʻohana i nā mea kōkua like ʻole, e like me nā pale lima, nā koʻokoʻo, nā mea hele wāwae, a me nā noho huila.
• Lapaʻau ʻōlelo a me ke ale ʻana: Kōkua i nā pilikia o ka ʻōlelo a me ke ale ʻana.
• ʻŌmole hānai: Inā paʻakikī a weliweli paha ka moni ʻana, hiki ke hoʻokomo ʻia kahi ʻōmole ma o ka ihu a i ʻole ka ʻōpū pololei i loko o ka ʻōpū.
• Ka hoʻoulu ʻana i ka ea: Ke pilikia ka hanu ʻana, pono e hoʻohana i nā mīkini kūikawā (nā ventilator).

2. Nā lāʻau lapaʻau e hoʻololi i ke ala o ka maʻi

Mai ka makahiki 2016, ua hoʻolauna ʻia kekahi mau lāʻau lapaʻau i hoʻololi nui i ka mālama ʻana i ka SMA. Hiki i kēia ke hoʻololi nui i ke ala o ka maʻi.

• Lapaʻau Hoʻololi Maʻi: Hana kēia mau lāʻau lapaʻau ma ka hoʻoulu ʻana i ka gene 'backup' a mākou i kamaʻilio ai ma mua, ʻo ia hoʻi ka gene SMN2, a ke kumu e hana ai i ka protein SMN hou aʻe. ʻO Nusinersen (Spinraza®) a me Risdiplam (Evrysdi®) kēia ʻano lāʻau.
• Lapaʻau Hoʻololi Gene: He ʻano lapaʻau holomua loa kēia.Hoʻololi ka lāʻau onasemnogene abeparvovec-xioi (Zolgensma®) i ka gene SMN1 i nalowale a hemahema paha me kahi gene SMN1 e hana ana. He lāʻau lapaʻau hoʻokahi manawa kēia i hāʻawi ʻia ma ke ʻano intravenous (IV).

Ka holomua o ka maʻi SMA a me nā pilikia hiki ke loaʻa

Me ka hala ʻana o ka manawa, hiki i ka nāwaliwali o nā ʻiʻo ke alakaʻi i nā pilikia like ʻole.

• ʻO Scoliosis , ke kuʻe ʻana o ka ʻūhā, nā haki.
• ʻAʻole pono ka meaʻai a me ka make wai ma muli o ka paʻakikī i ke ale ʻana i ka meaʻai.
• ʻO nā maʻi umauma e like me ka pneumonia aspiration i hoʻokumu ʻia e ke komo ʻana o ka meaʻai i loko o ke alaloa.
• Ka nāwaliwali o ka māmā a me ka paʻakikī o ka hanu ʻana.

ʻOkoʻa loa ke ola o ke keiki me SMA ma muli o ke ʻano o ka maʻi. I nā ʻano 3 a me 4, ʻaʻole i hoʻopilikia nui ʻia ke ola. I nā hihia koʻikoʻi e like me ke ʻano 1, ʻoi aku ka nui o nā pilikia. Eia nō naʻe, me nā lāʻau lapaʻau hou i hoʻolauna ʻia, ua piʻi nui ke ola a me ke ʻano o ke ola, ʻoi aku hoʻi no nā keiki ʻano 1. No laila, ʻo ke kanaka maikaʻi loa e ʻike i ka ʻike pololei loa e pili ana i ke kūlana o kāu keiki ʻo ia kāu kauka.