He nāwaliwali nā ʻiʻo hānau o kāu pēpē? E aʻo kākou e pili ana i ka Congenital Myopathy.

Ua manaʻo paha ʻoe ua ʻōʻō iki kāu keiki liʻiliʻi, me he mea lā ua make? A i ʻole ua ʻōlelo mai nā kauka i kekahi mea e pili ana i ko lākou mau ʻiʻo ma hope koke iho o ko lākou hānau ʻia ʻana? He mea maʻamau ke manaʻo iki i ka makaʻu ke lohe ʻoe i nā mea e like me kēia. I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi genetic e hiki ai ke hoʻoulu i kēia mau hōʻailona, ​​akā ʻaʻole ia he mea maʻamau.

He aha ka Myopathy Congenital?

I ka ʻōlelo maʻalahi, he maʻi genetic kakaikahi loa ka Congenital Myopathy. Hoʻonāwaliwali kēia i ko mākou mau ʻiʻo. ʻO ke ʻano o ka huaʻōlelo 'Congenital' ʻo ia hoʻi 'mai ka hānau ʻana mai'. ʻO ke ʻano o 'Myopathy' ʻo ia hoʻi 'maʻi o nā ʻiʻo'. No laila, i ka wā e hānau ʻia ai nā pēpē me kēia maʻi, haʻahaʻa ke kani o ko lākou mau ʻiʻo. Manaʻo lākou ua palupalu ko lākou kino. Kāhea pū mākou i kēia ʻo 'Hypotonia' ma nā ʻōlelo lapaʻau.

Ma waho aʻe o kēia nāwaliwali o nā ʻiʻo, hiki ke ʻike ʻia nā hōʻailona ʻē aʻe. Eia kekahi laʻana:

• Nā pilikia iwi (e like me nā iwi nāwaliwali a i ʻole nā ​​​​iwi i kūpono ʻole)
• Paʻakikī ka hanu ʻana
• Ka paʻakikī i ka hānai ʻana i ka waiū a me ka ʻai ʻana

Hiki ke ʻike ʻia kēia mau hōʻailona i kekahi manawa i ka wā hānau. A i ʻole, hiki ke ʻike ʻia i ka wā kamaliʻi a i ʻole ka wā kamaliʻi. E noʻonoʻo i ka makaʻu o ka makuahine a i ʻole ka makuakāne inā ʻike lākou i kahi pēpē hānau hou e moe ana me ka neʻe ʻole a me ke ola ʻole.

He aha nā ʻano nui o ka myopathy congenital?

Aia ma kahi o ʻeono ʻano nui o ka myopathy hānau. Aia kekahi mau ʻano ʻē aʻe, kakaikahi loa i ʻike ʻia. Hiki i kēlā me kēia ʻano ke ʻokoʻa ma ke ʻano o nā hōʻailona, ​​​​ke koʻikoʻi o ka maʻi, nā koho lapaʻau, a me ka wānana no ka mea maʻi.

I kēia manawa, e nānā kākou i kēia mau ʻano nui ʻeono me nā kikoʻī hou aku.

Maʻi Waena o ke Kino

ʻO kēia ke ʻano maʻamau o ka myopathy hānau. ʻO ka maʻi Central Core kahi ʻano myopathy i kapa ʻia ʻo Core Myopathy. ʻO ka maʻamau, hānau ʻia nā pēpē me ka limp, a i ʻole hypotonia. Hiki i kēia mau keiki ke lohi i ka hoʻomohala ʻana i nā milestones (e like me ke noho ʻana a me ka ʻōwili ʻana). Loaʻa paha iā lākou ka nāwaliwali iki i ko lākou mau lima a me nā wāwae. ʻO ka nūhou maikaʻi, ʻaʻole ʻike ʻia kēia nāwaliwali e ʻoi aku ka ʻino i ka hala ʻana o ka manawa. Hoʻokumu ʻia ka maʻi Central Core e kahi mutation i loko o ka gene i kapa ʻia ʻo RYR1.

Maʻi Minicore/Multicore

ʻO kēia kekahi ʻano myopathy e pili ana i ka māhele like me ka 'Core Myopathy' i ʻōlelo mua ʻia. Loaʻa iā ia kekahi mau ʻano like ʻole. Ua kapa ʻia hoʻi ʻo ia ʻo "Minicore Disease" a i ʻole "Multicore Disease". I loko o ka nui o kēia mau ʻano like ʻole, ʻike ʻia ka nāwaliwali nui ma nā lima a me nā wāwae.Eia kekahi, ʻike pinepine ʻia ke kūlou ʻana o ka iwi kuamoʻo, ʻo ia hoʻi, ʻo `(Scoliosis)`. He mea maʻamau nō hoʻi ka paʻakikī o ka hanu ʻana, a hiki ke hoʻopilikia ʻia ka neʻe ʻana o nā maka. Hiki ke hana ʻia kēia e kahi mutation i loko o ka gene `(RYR1)` i ʻōlelo mua ʻia a i ʻole kekahi gene ʻē aʻe.

ʻO ka Nemaline Myopathy

ʻO Nemaline Myopathy kekahi myopathy hānau maʻamau. ʻO nā pēpē me kēia maʻi e paʻakikī pinepine i ka hanu ʻana a me ka hānai ʻana. Loaʻa pinepine iā lākou ka nāwaliwali ma ko lākou helehelena, ʻāʻī, lima, a me nā wāwae. Eia kekahi, hiki iā lākou ke hoʻomohala i nā pilikia iwi e like me ka scoliosis. Hoʻokumu ʻia ʻo Nemaline Myopathy e kahi mutation i loko o kekahi o nā genes, me NEM2, ACTA1, a me TPM2.

ʻO ka Myopathy Centronuclear

He ʻano myopathy hānau kakaikahi loa kēia. ʻO nā hōʻailona o ka `(Centronuclear Myopathy)` e komo pū me ka nāwaliwali o nā lima, nā wāwae, a me ke alo o kāu pēpē, nā lihilihi maka e kūlou ana, a me nā pilikia me ka neʻe ʻana o nā maka. ʻO ka mea pōʻino, e lilo kēia nāwaliwali i mea ʻino i ka hala ʻana o ka manawa. Hoʻokumu ʻia ia e kahi mutation i loko o nā genes `(DNM2)`, `(BIN1)`, a i ʻole `(RYR1)`.

ʻO ka Myopathy Myotubular

ʻO ka Myotubular Myopathy kahi myopathy hānau kakaikahi e pili pinepine ana i nā pēpē kāne wale nō. I kēia hihia, lilo ke kino i palupalu loa a nāwaliwali. He mea maʻamau nō hoʻi ka paʻakikī o ka hanu ʻana a me ke ale ʻana. Eia kekahi, he mea maʻamau kahi maʻi i kapa ʻia ʻo osteopenia. ʻO ka mea kaumaha, ʻaʻole ola ka nui o nā keiki i ka makahiki mua o ko lākou ola. Hoʻokumu ʻia kēia e kahi mutation i loko o ka gene i kapa ʻia ʻo MTM1.

ʻO ka Myopathy Disproportion ʻAno Fiber Congenital

He maʻi laha ʻole nō hoʻi kēia. Hoʻomaka pū ka `(Congenital Fiber-Type Disproportion Myopathy)` me ka ʻōʻō. ʻO nā hōʻailona e komo pū me ka nāwaliwali ma ka maka, nā lima, a me nā wāwae, me ka paʻakikī o ka hanu ʻana. ʻOiai ua pilikia nui ka hapa nui o nā pēpē, hiki ke hoʻomaikaʻi iki kā lākou hana hanu me ka makahiki. Ua ʻike ʻia nā loli i loko o nā genes `(TPM3)`, `(ACTA1)`, `(TPM2)`, `(MYH7)`, a me `(RYR1)` i nā keiki me kēia maʻi.

He aha nā hōʻailona maʻamau o ka myopathy congenital?

E like me kā mākou i kūkākūkā ai ma mua, hiki ke ʻokoʻa nā hōʻailona o kēia mau myopathies congenital ma muli o ke ʻano. Eia kekahi, hiki ke ʻike ʻia i ka wā hānau a i ʻole e ʻike ʻia i ka wā kamaliʻi a i ʻole ka wā kamaliʻi. Eia nō naʻe, aia kekahi mau hōʻailona maʻamau i ʻike pinepine ʻia. ʻO lākou:

• Hypotonia: Manaʻo nā ʻiʻo o kāu keiki ua nāwaliwali a make. Hiki i kēia ke hoʻonui i ka hala ʻana o ka manawa, a i kekahi mau hihia, hiki ke emi iho.
• Nāwaliwali o nā ʻiʻo: ʻoi aku hoʻi i nā keikiʻO nā ʻiʻo ma ka ʻāʻī, nā poʻohiwi, a me nā pūhaka (nā ʻiʻo proximal) nā mea i hoʻonāwaliwali pinepine ʻia.
• Paʻakikī ka hanu ʻana: I ka nāwaliwali ʻana o nā ʻiʻo e kōkua iā ʻoe e hanu, hiki iā ʻoe ke paʻakikī i ka hanu ʻana a me ke ʻano o ka paʻa i kou umauma.
• Nā lohi o ka ulu ʻana: ʻO nā pae holomua o ka ulu ʻana o kahi pēpē, e like me ka noho ʻana, ke kolo ʻana, ke kū ʻana, a me ka hele wāwae ʻana, ʻaʻole ia e hana i ka manawa i manaʻo ʻia. No ka laʻana, hiki i kēia pēpē ke paʻakikī i ka hāpai ʻana i ko lākou poʻo i luna ke hana nei nā pēpē ʻē aʻe o ko lākou mau makahiki pēlā.
• Nā pilikia hānai: Paʻakikī i ka omo ʻana mai ka nipple a i ʻole ka ʻōmole, paʻakikī i ka ʻai ʻana me ka puna, ka nau ʻana i ka meaʻai, a i ʻole ka inu ʻana i ka wai. Hiki i kēia ke alakaʻi i ka pohō kaumaha.
• Hāʻule/Kuʻia: I kou wā ʻelemakule, hiki iā ʻoe ke hāʻule a kuʻia pinepine i ka wā e hele ana ma muli o ka nāwaliwali o nā ʻiʻo.

He aha nā kumu o ka myopathy hānau?

ʻO kaʻoiaʻiʻo, ʻo ke kumu nui o ka hapa nui o kēia mau myopathies congenital, ʻo ia nā loli i nā genes kikoʻī, i kapa ʻia ʻo mutations. Ua like kēia mau genes me kahi hoʻonohonoho liʻiliʻi o nā kuhikuhi e kāohi ana i nā mea āpau i loko o ko mākou kino. E noʻonoʻo iā ia e like me kahi meaʻai. Inā he hewa i kekahi ʻāpana o kēlā meaʻai, hiki ke hōʻino ʻia ke kīʻaha holoʻokoʻa, ʻeā? Pēlā nō ia me nā loli i nā genes. Ke loli kēia mau genes, hiki ke hoʻopilikia i nā ʻiʻo o ke keiki, nā aʻalolo e hoʻoulu ai i nā ʻiʻo, a i kekahi manawa i ka lolo o ke keiki. ʻO ia ke kumu e loaʻa ai kēlā mau nāwaliwali o nā ʻiʻo.

Pehea e ʻike ʻia ai ka myopathy congenital?

I ka wā e hānau ai kāu pēpē, e nānā pinepine ʻia lākou e ke kauka loea ma ka ʻāpana neonatal (`Neonatologist`) a i ʻole he pediatrician (`Pediatrician`). Inā kānalua lākou i kahi maʻi, hiki iā lākou ke kauoha i kekahi mau hoʻokolohua e hōʻoia i ka hōʻailona. Hiki iā lākou ke kuhikuhi i kāu pēpē i kahi loea i ka neurology (`Neurologist`) a malia paha he loea i ka genetics (`Geneticist`).

Hiki i kēia mau hoʻokolohua ke komo pū me:

• Hoʻāʻo koko: Hiki i kēia ke nānā i ka piʻi ʻana o ka nui o kahi enzyme i kapa ʻia ʻo "Creatine Kinase", kahi i hoʻokuʻu ʻia i loko o ke koko ke hōʻino ʻia nā ʻiʻo.
• Hoʻāʻo Electromyogram (EMG): Hiki i kahi EMG ke ana i ka hana uila o nā ʻiʻo o kāu keiki. Ana kēia i ka maikaʻi o ka hana ʻana o nā ʻiʻo.
• ʻO ka Biopsy ʻIʻo: Pili kēia i ka lawe ʻana i kahi ʻāpana liʻiliʻi loa o ka ʻiʻo o kāu keiki a nānā iā ia ma lalo o kahi microscope. Hiki i kēia ke kōkua i ka ʻike ʻana i nā loli i loko o nā ʻiʻo. Ua like kēia me kahi hana liʻiliʻi, akā ʻaʻohe mea e hopohopo ai.
• Hoʻāʻo Genetic:ʻO kēia ka hoʻāʻo e kōkua pinepine ai i ka ʻike maopopo ʻana i ka maʻi. Hiki iā ia ke ʻike i nā loli, a i ʻole nā ​​​​mutation, i loko o nā genes e hoʻoulu ai i ka myopathy.

He aha nā lāʻau lapaʻau no ka myopathy congenital?

ʻO ka ʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no kēia mau maʻi myopathy congenital. He mea kaumaha paha kēia, akā he ʻoiaʻiʻo. Eia nō naʻe, aia nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a kōkua i kāu keiki e ola i ke ola maikaʻi e like me ka hiki.

No kekahi mau ʻano, e like me ka "Central Core Disease" a me ka "Minicore Disease", aia kekahi mau hihia kahi e hoʻohana ʻia ai kahi lāʻau i kapa ʻia ʻo "Albuterol". ʻOiai aia nō kēia i ke kahua noiʻi, ua ʻike ʻia e kōkua i ka hōʻemi ʻana i ka nāwaliwali a ke keiki e ʻike ai i kekahi ʻano. Akā e hoʻomanaʻo, ʻaʻole kēia he lāʻau lapaʻau no ka maʻi.

ʻO ka mālama ʻana no nā ʻano ʻē aʻe a pau e pili ana i ka mālama ʻana i nā hōʻailona o ke keiki. Pono e komo pū kēia lāʻau lapaʻau me:

• Lapaʻau Orthopedic: Inā pono, ka mālama ʻana i nā pilikia iwi. No ka laʻana, pono paha ke ʻoki kino a i ʻole ka hoʻohana ʻana i nā mea kākoʻo no nā mea e like me ka scoliosis.
• Hoʻōla Kino: He mea nui loa kēia. Ke aʻo nei ia i nā hoʻomaʻamaʻa a me nā ʻano hana like ʻole e hoʻoikaika i nā ʻiʻo, hoʻomaikaʻi i ka neʻe ʻana, a hoʻomaikaʻi i ke kaulike o ke keiki.
• Hoʻōla Hana: Pili kēia i ke kōkua ʻana i ke keiki e hana i nā hana o kēlā me kēia lā me ke kūʻokoʻa. Eia kekahi laʻana, ke kōkua ʻana me nā mea e like me ke komo ʻana i ke kapa, ka ʻai ʻana, ka pāʻani ʻana, a me ka heluhelu ʻana a me ke kākau ʻana.
• Lapaʻau ʻŌlelo: E kōkua i nā pilikia ʻōlelo a me nā pilikia ale.

ʻO ka mea nui loa, ʻo ia ka hoʻopilikino ʻia ʻana o kēia mau lāʻau lapaʻau a pau i nā pono o ke keiki, ma lalo o ke alakaʻi ʻana a nā kauka loea a me nā mea hoʻōla, a mālama ʻia ma ke ʻano he hui.

Eia kekahi, ke hoʻomohala ʻia nei nā lāʻau lapaʻau hoʻokolohua ʻē aʻe, e like me nā therapies gene, a ke manaʻolana nei mākou e loaʻa nā hopena maikaʻi i kēia mau mea i ka wā e hiki mai ana.

Aia kekahi ala e pale aku ai i kaʻu keiki mai ka hoʻomohala ʻana i ka myopathy congenital?

He nīnau paʻakikī loa kēia. ʻOiai ʻo ka myopathy congenital ke kumu o kahi mutation genetic, ʻaʻohe ala e pale aku ai i kēia maʻi mai ka hanana ʻana.

Eia nō naʻe, inā hopohopo ʻoe a kānalua paha he keiki kāu me kahi maʻi genetic, ʻo ka mea maikaʻi loa hiki iā ʻoe ke hana, ʻo ia ke kamaʻilio me kāu kauka e pili ana i ke aʻo ʻana i ka genetic a, inā pono, ka hoʻāʻo ʻana i ka genetic.He mea nui loa ia e kamaʻilio e pili ana i kēia ma mua o kou loaʻa ʻana o kahi keiki, ʻoiai inā loaʻa i kekahi o kou ʻohana kahi myopathy a i ʻole kekahi maʻi genetic ʻē aʻe. Hiki i kahi kākāʻōlelo genetic ke haʻi hou aku iā ʻoe e pili ana i kēia a loiloi i kou pilikia.

He aha ka mea e hiki mai ana inā loaʻa i kaʻu keiki ka Congenital Myopathy?

He mea paʻakikī ke hāʻawi i hoʻokahi pane i kēia nīnau, no ka mea, hiki ke ʻokoʻa loa ka prognosis ma muli o ke ʻano o ka myopathy congenital i loaʻa i ke keiki a me ke koʻikoʻi o ka maʻi.

Hiki i ka myopathy i hoʻoilina ke hana i nā pilikia iwi lōʻihi, e like me:

• Ka emi ʻana o ka neʻe ʻana o nā hono.
• Nā pilikia o ka ʻūhā.

Eia kekahi, ʻokoʻa ke ola o ke kanaka mai kēlā kanaka a kēia kanaka. Inā pilikia nui ka hanu ʻana o kāu pēpē, hiki iā ia ke loaʻa i ka hāʻule ʻana o ka hanu a i ʻole nā ​​​​pilikia e like me ka maʻi pneumonia. I nā hihia koʻikoʻi, hiki i kēia ke hoʻoweliweli i ke ola.

Eia nō naʻe, hiki i kekahi mau keiki me nā maʻi ʻoluʻolu ke ulu a lilo i mea maʻamau a ola i ke ola piha. Hiki iā lākou ke hele i ke kula, pāʻani, a hana i kā lākou mau hana ponoʻī.

No laila, he mea nui e kamaʻilio ākea me ke kauka o kāu keiki e pili ana i ko lākou kūlana kikoʻī. E hiki iā lākou ke hāʻawi iā ʻoe i ka ʻike pololei loa a pane i nā nīnau āu e loaʻa ai.

He aha ka ʻokoʻa ma waena o ka Congenital Myopathy a me ka Muscular Dystrophy?

Ua lohe paha ʻoe i kahi maʻi i kapa ʻia ʻo muscular dystrophy. He maʻi genetic nō hoʻi ia e hoʻonāwaliwali ai i nā ʻiʻo. Eia nō naʻe, aia kekahi mau ʻokoʻa koʻikoʻi ma waena o nā mea ʻelua.

• Ka manawa e hoʻomaka ai nā hōʻailona: I ka myopathy congenital, ʻike ʻia nā hōʻailona i ka wā hānau a i ʻole i ka wā kamaliʻi/kamaliʻi. Eia nō naʻe, i ka muscular dystrophy, loaʻa i kekahi poʻe nā hōʻailona i ka wā hānau, aʻo kekahi poʻe e loaʻa paha nā hōʻailona i ka wā kamaliʻi, ʻōpio, a i ʻole ka wā makua.
• He aha ka mea e hana ʻia i nā ʻiʻo: I ka muscular dystrophy, e palupalu mālie nā ʻiʻo a hana hou. Eia kekahi, he maʻi holomua ka muscular dystrophy, ʻo ia hoʻi e ʻoi aku ka ʻino o nā hōʻailona i ka hala ʻana o ka manawa. I nā myopathies congenital, ʻo ka nāwaliwali o nā ʻiʻo he paʻa mau a ulu mālie paha (me kekahi mau ʻokoʻa).
• Nā hopena ma nā ʻōpū ʻē aʻe: Hiki i ka muscular dystrophy ke hoʻopilikia i ka puʻuwai a me nā māmā i ka hala ʻana o ka manawa. ʻAʻole kēia i maʻamau i nā myopathies congenital (koe wale nō kekahi mau ʻano).
• ʻIkepili: Hiki i nā kauka ke hoʻokaʻawale maopopo ma waena o kēia mau maʻi ʻelua ma o nā hoʻokolohua lab like ʻole, ʻoiai kahi biopsy muscle.

I ka ʻōlelo maʻalahi, i nā myopathies hānau ʻia, ʻo ka nāwaliwali o nā ʻiʻo e mau like ia i ka hala ʻana o ka manawa, a i ʻole e hoʻomaikaʻi iki paha (koe wale nō kekahi mau ʻano koʻikoʻi). Eia nō naʻe, ʻo ka "Muscular Dystrophy" kahi maʻi e lilo pinepine i mea ʻino.

ʻO ka mea hope loa, nā mea e pono ai ʻoe e hoʻomanaʻo (Leka Lawe-Home)

Maopopo iaʻu he mea kaumaha nui a he mea hoʻohoka hoʻi ka lohe ʻana he maʻi hānau kakaʻikahi ko kāu pēpē, a he mea paʻakikī ke haʻi aku i nā huaʻōlelo. He mea paʻakikī loa ke hoʻomaopopo iā ia.

Akā e hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Aia kahi hui nui o nā loea, me nā kauka, nā physiotherapists, nā therapists occupational, a me nā therapists ʻōlelo, eia lākou e kōkua iā ʻoe a me kāu keiki. ʻO kā lākou pahuhopu ke kōkua i kāu keiki e ola i ka lōʻihi e like me ka hiki, a e kōkua iā lākou e noho ʻoluʻolu a hana e like me ka hiki.

Aia nā lawelawe kākoʻo i loaʻa iā ʻoe a me kou ʻohana e kōkua iā ʻoe e hoʻoponopono i nā pilikia o ke ola ʻana me kahi maʻi e like me kēia. I kekahi manawa, loaʻa pū kēia mau lawelawe e kōkua iā ʻoe e hoʻoponopono i ka nalowale o kahi keiki. Aia paha he mau hui ma Sri Lanka e kōkua ana i nā keiki a me nā ʻohana e like me kēia, no laila e nānā iā lākou.

ʻOiaʻiʻo, inā ua loaʻa i kekahi o kou ʻohana ka myopathy a ke hāpai nei ʻoe i kahi keiki, e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic ma mua o kou hāpai ʻana. Hiki iā lākou ke kōkua iā ʻoe e hoʻoholo i kou pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi genetic.

ʻOiai he paʻakikī kēia huakaʻi, me ka ʻike kūpono, nā ʻōlelo aʻoaʻo lapaʻau kūpono, a me ke kākoʻo o nā mea aloha, e loaʻa iā ʻoe ka ikaika e kū ai i mua. Mai hoʻokuʻu i ka manaʻolana. E loaʻa iā ʻoe ka ikaika e hana i nā mea āpau hiki iā ʻoe no kāu keiki!

ʻO ka Myopathy hānau, ka nāwaliwali o nā ʻiʻo, nā maʻi kamaliʻi, nā maʻi genetic, hypotonia, ka hoʻāʻo genetic, ka lāʻau lapaʻau kino