He palaualelo anei kou kino a i ʻole ke kino o kāu keiki? He Nemaline Myopathy paha ia?

Ke manaʻo nei ʻoe i kekahi manawa ua nāwaliwali loa kou kino, a i ʻole ke hana nei kāu keiki liʻiliʻi i nā mea ma hope iki o nā keiki ʻē aʻe, a i ʻole me he mea lā ua nele i ka ikaika? Hiki ke hana ʻia kēia mau mea no nā kumu like ʻole. Eia nō naʻe, i kēia lā e kamaʻilio mākou e pili ana i kahi maʻi kakaʻikahi akā koʻikoʻi e pono e makaʻala. ʻO ia ke ʻano i kapa ʻia ʻo Nemaline Myopathy .

He aha ka Nemaline Myopathy?

I ka ʻōlelo maʻalahi, ʻo Nemaline Myopathy kahi maʻi e hoʻopilikia ai i nā ʻiʻo e kōkua i ko mākou kino e neʻe (ʻike ʻia hoʻi he mau ʻiʻo iwi ). Hoʻopilikia kēia i ka nāwaliwali o nā ʻiʻo (myopathy) ma nā ʻāpana like ʻole o ke kino. Hiki ke loaʻa kēia mau hōʻailona i kekahi manawa i ka wā hānau, a i ʻole i ka wā kamaliʻi, a kakaikahi loa i ka wā makua. Hoʻopilikia pinepine kēia nāwaliwali o nā ʻiʻo i:

• I kou alo
• I ka ʻāʻī
• I ka ʻāpana ʻūhā
• I nā poʻohiwi
• No nā lima a me nā wāwae o luna

Aia kekahi mea kūikawā ʻē aʻe e pili ana i kēia nemaline myopathy. ʻO ia hoʻi, ke nānā mākou i nā ʻiʻo (hana mākou i kahi biopsy ), ʻike mākou i nā mea liʻiliʻi e like me ke kaula, e like me ka lāʻau i loko o nā ʻiʻo (ua kapa ʻia kēia he kino nemaline) . ʻO ka huaʻōlelo Helene "nema" ʻo ia hoʻi "e like me ke kaula". No laila ke ʻano o ka loaʻa ʻana o kēia maʻi i kona inoa. Ua kapa ʻia hoʻi ia ma nā inoa ʻē aʻe, ua lohe paha ʻoe iā ia:

• Maʻi koʻokoʻo hānau
• Maʻi kino Nemaline
• ʻO ke koʻokoʻo myopathy

ʻO ka hapa nui o ka poʻe me ka nemaline myopathy ua hānau ʻia me kahi hoʻololi genetic i hoʻoilina ʻia mai ko lākou mau mākua . Eia nō naʻe, he mea kakaikahi loa, hiki ke hana ʻia ke ʻano me ka ʻole o ka mōʻaukala ʻohana, a hiki ke hana ʻia e kahi hoʻololi gene random.

ʻO ka mea nui, ʻaʻohe lāʻau lapaʻau no ka nemaline myopathy. Eia nō naʻe, aia nā ʻano lāʻau like ʻole e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a hoʻomaʻalahi i ke ola. Hiki i ka poʻe me ke ʻano maʻamau o ka nemaline myopathy ke alakaʻi pinepine i nā ola maʻamau a hana.

Aia kekahi mau ʻano like ʻole o ka Nemaline Myopathy?

ʻAe, ʻeono ʻano nui o ka nemaline myopathy. ʻOkoʻa ka manawa o ka hoʻomaka ʻana o nā hōʻailona a me ke koʻikoʻi o ka maʻi ma muli o ke ʻano. 1. ʻO ka myopathy nemaline congenital maʻamau : ʻO kēia ke ʻano maʻamau . Ma kahi o ka hapalua o nā maʻi myopathy nemaline āpau no kēia ʻano. He kūlana kēia i loaʻa i ka wā hānau. 2. ʻO ka myopathy nemaline congenital waena :Ma kēia ʻano, ʻoi aku ka liʻiliʻi o nā hōʻailona ma mua o ke ʻano koʻikoʻi, akā ʻoi aku ka koʻikoʻi ma mua o ke ʻano maʻamau. Ma kahi o 20% o nā maʻi i loaʻa i kēia ʻano. 3. ʻO ka myopathy nemaline hānau hou (neonatal) koʻikoʻi : He ʻano koʻikoʻi kēia i loaʻa i ka wā hānau . Ma kahi o 16% o nā maʻi i loaʻa i kēia ʻano. 4. ʻO ka myopathy nemaline i ka wā kamaliʻi : ʻIke ʻia kēia ʻano ma waena o nā makahiki 10 a me 20. Ma kahi o 10% o nā maʻi i loaʻa i kēia ʻano. 5. ʻO ka myopathy nemaline i ka wā makua: Loaʻa kēia ʻano ma waena o nā makahiki 20 a me 50. Ma kahi o 4% o nā maʻi i loaʻa i kēia ʻano. 6. ʻO ka myopathy nemaline Amish : He ʻano kikoʻī kēia i ʻike ʻia i waena o ke kaiāulu Amish. He mea kākaʻikahi loa ia a hiki ke alakaʻi pinepine i ka make i ka wā kamaliʻi.

ʻO wai ka mea hiki ke hoʻomohala i kēia maʻi?

Hiki i ka Nemaline myopathy ke hoʻopilikia i kekahi, me ka nānā ʻole i ke kāne, ka lāhui, a i ʻole ka hoʻomana. Eia nō naʻe, inā loaʻa i kekahi a i ʻole ʻelua o kou mau mākua ka hoʻololi ʻana o ka gene no ka maʻi, ʻoi aku kou pilikia . ʻOi aku ka nui o ka pilikia o ka poʻe ma ke kaiāulu ʻAmish. He maʻi laha ʻole loa ia. Wahi a nā kānaka noiʻi, loaʻa ka maʻi ma kahi o hoʻokahi i loko o 50,000 mau hānau ola. Eia nō naʻe, ma ke kaiāulu ʻAmish, ua ʻōlelo ʻia hiki ke hoʻopilikia ʻia kekahi i loko o 500 mau kānaka e kēia ʻano.

He aha nā kumu o ka Nemaline Myopathy?

ʻO ka Nemaline myopathy kahi maʻi o ko kākou ʻōnaehana iwi a me nā ʻiʻo . Hoʻokumu pinepine ʻia ia e nā loli i nā genes, i kapa ʻia he gene mutations . Hiki ke hoʻoilina ʻia kēia mau gene mutations mai kekahi a i ʻole nā ​​mākua ʻelua.

• I kekahi manawa, hiki ke hana ʻia kēia ʻano inā loaʻa i nā mākua ʻelua ka gene ʻano ʻē (ʻo ia hoʻi, ua hoʻoilina ʻia ma ke ʻano he ʻano autosomal recessive) .
• I kekahi manawa, hiki ke ulu aʻe inā hoʻokahi wale nō makua e hoʻoilina i ka gene ʻano ʻē (ʻo ia hoʻi, ma ke ʻano he ʻano autosomal dominant ).
• I kekahi manawa, hiki ke kū mai kēia ʻano mai kahi hoʻololi genetic hou i loko o ka sperm a i ʻole ka hua manu.

Hoʻokumu pinepine ʻia kēia e nā mutations i loko o ka gene Nebulin (NEB) a i ʻole ka gene Actin alpha-1 (ACTA1) . ʻO Nebulin lāua ʻo actin ʻelua ʻano protein e kōkua i ko mākou mau ʻiʻo e ʻūlū. E noʻonoʻo iā lākou e like me nā ʻāpana o kahi mīkini. Ke loaʻa kahi pilikia me kēia mau ʻāpana, e pau ka hana pono ʻana o nā ʻiʻo.

He aha nā hōʻailona o kēia maʻi?

ʻO nā hōʻailona nui o ka nemaline myopathy:

• Ka emi ʻana o ke kani o nā ʻiʻo (Hypotonia) : He manaʻo o ka nāwaliwali o ke kino, e like me ka pōpō laholio.
• Ua emi a nalowale paha nā reflexes: Ua emi ka hiki ke hoʻoneʻe i ka wāwae ke kuʻi ke kauka i ke kuli me ka hāmare liʻiliʻi.
• Nāwaliwali o nā ʻiʻo : He manaʻo o ka nāwaliwali i ke kino .

Inā hōʻike kāu pēpē i kēia mau hōʻailona, ​​​​hiki iā ʻoe ke ʻike i nā mea ʻē aʻe e like me:

• He hele wāwae ʻē aʻe (gait disorder) .
• Nā mākau neʻe lohi: Hoʻopaneʻe i nā mea e like me ka noho ʻana, ke kū ʻana, a me ka kaohi ʻana i ke poʻo.
• Paʻakikī i ka ʻōlelo ʻana a me ke ale ʻana (dysarthria a me dysphagia) .
• Ua kau ʻia ka ʻāpana ʻauwae ma hope ma mua o ka maʻamau (retrognathia) .
• Ke lawe nei i ke ʻano o ka helehelena elongated .
• Ke kūlou ʻano ʻē o ka lehelehe luna o ka waha .
• ʻŌlelo ʻino (hana ʻole o ka velopharyngeal) .
• Ka nāwaliwali o ka hanu ʻana i ka wā hiamoe (nocturnal hypoventilation) , hiki ke hoʻonui i nā pae kalapona dioxide i loko o ke koko (hypercarbia) .
• Ka paʻakikī o ka hanu ʻana (dyspnea) .

Hiki i nā poʻe me kēia maʻi ke loaʻa nā hōʻailona ʻē aʻe i ko lākou wā ʻelemakule :

• ʻOʻoleʻa kūpono ʻole o ka iwi kuamoʻo .
• ʻO ke skoliosis .
• Nā ʻaelike hui .
• He pahu poho (pectus excavatum) .

Pehea e ʻike ʻia ai kēia maʻi?

ʻO ka mea mua, e nīnau ke kauka iā ʻoe a i ʻole kāu keiki e pili ana i kāu mau hōʻailona a inā paha ua loaʻa i kekahi o kou ʻohana nā kūlana like. A laila, e hana lākou i kahi hoʻokolokolo kino. Inā kānalua ke kauka i ka nemaline myopathy, e kauoha ʻo ia i kahi biopsy ʻiʻo . Pili kēia i ka wehe ʻana i kahi ʻāpana liʻiliʻi o ka ʻiʻo ʻiʻo i ka wā o ke ʻoki ʻana a me ka nānā ʻana iā ia. Inā loaʻa iā ʻoe a i ʻole kāu keiki kēia kūlana, e ʻike ʻoe i nā ʻano like me ke kaula (nā kino nemaline) i loko o kēlā ʻāpana ʻiʻo. E hana pū ke kauka i ka hoʻāʻo genetic .Hiki ke ʻōlelo ʻia. Hiki i kēia ke hōʻoia i ke kūlana o ka nemaline myopathy.

Pehea e mālama ʻia ai?

E like me ka mea i ʻōlelo ʻia ma mua, ʻaʻohe lāʻau lapaʻau kūikawā no kēia. No laila, ʻo ka manaʻo o ka lāʻau lapaʻau e hōʻemi i nā hōʻailona a kōkua i ka maʻalahi o ke ola . Hiki i ka lāʻau lapaʻau ke komo pū me:

• Kōkua me nā pilikia hanu: Hiki i kēia ke komo pū me ke kau ʻana i kahi tracheostomy , ka hoʻopili ʻana i kahi mīkini hoʻoulu ea mechanical , a i ʻole ka hoʻohana ʻana i kahi mīkini BiPAP .
• Hoʻoikaika kino haʻahaʻa: E mālama i ka ikaika o nā ʻiʻo.
• Lomilomi a me ka hoʻōla kino : Mālama i ka hana o nā ʻiʻo.
• Hoʻōla ʻōlelo : E hōʻemi i nā pilikia o ka ʻōlelo a me ka haʻi ʻōlelo.
• Nā ʻano hana hoʻolōʻihi : Hoʻonui i ka neʻe ʻana o nā ʻiʻo.
• Nā mea kōkua no ka hele wāwae: Nā mea e like me ke koʻokoʻo, nā koʻokoʻo, nā mea pale kuli, a me ka noho huila.

Inā koʻikoʻi nā hōʻailona, ​​a inā he mau pilikia olakino ʻē aʻe, pono paha ʻoe e lawe ʻia i ka haukapila . Hiki i ka mālama ʻana i ka haukapila ke hāʻawi i kēia mau lāʻau lapaʻau:

• Kākoʻo hanu: E like me ka hoʻoulu ʻana i ka ea mechanical e kōkua iā ʻoe e hanu i ka wā hiamoe.
• ʻOki kino : E mālama i nā ʻūmiʻi hui a i ʻole scoliosis .
• ʻO ka meaʻai enteral : Inā pilikia ʻoe i ka ale ʻana i ka meaʻai.

Hiki ke hoʻemi ʻia kēia pilikia?

ʻOiaʻiʻo, ʻaʻohe ala e pale aku ai iā ʻoe iho a i ʻole kāu keiki mai ka loaʻa ʻana o ka nemaline myopathy. Eia nō naʻe, he mea nui loa ia e makaʻala i nā hōʻailona, ​​e ʻimi mua i ke aʻo lapaʻau, a hoʻomaka i ka lāʻau lapaʻau inā pono .

He aha ke ʻano o ka wā e hiki mai ana e hiki i kekahi me kēia maʻi ke manaʻo?

ʻOkoʻa maoli kēia ma muli o ke ʻano o ka maʻi .

• ʻO ka myopathy nemaline congenital maʻamau : ʻO ka nāwaliwali o nā ʻiʻo e mau mau ana i ka hala ʻana o ka manawa. Eia nō naʻe, i kou wā ʻelemakule, hiki ke hoʻonui iki ʻia ka nāwaliwali me ka ulu ʻana.
• ʻO ka myopathy nemaline congenital (neonatal) koʻikoʻi : Hiki i kēia ke hana i nā pilikia . Eia kekahi laʻana:
• He nui nā hono i paʻa i kahi kūlou a i ʻole kahi i hoʻolōʻihi ʻia (Arthrogryposis multiplex congenita) .
• Ka hanu ʻana i ka meaʻai a i ʻole nā ​​​​waiʻO ka niumonia hanu .
• Nā haki.
• ʻO ka maʻi ʻiʻo puʻuwai (Cardiomyopathy) .
• Ka hāʻule ʻana o ka hanu .
• ʻO ka myopathy nemaline congenital waena : Pono paha ka poʻe he nui i ke kōkua hanu a me kahi noho huila.
• ʻO ka myopathy nemaline i ka wā kamaliʻi : Hiki i kēia ke kumu i ka hāʻule ʻana o ka wāwae, ʻo ia ka hiki ʻole ke kulou i ka wāwae ma luna o ka kuʻekuʻe wāwae. Hiki iā ia ke alakaʻi i ka nalowale o ka neʻe ʻana o nā ʻiʻo kuʻekuʻe wāwae a me nā wāwae haʻahaʻa.
• ʻO ka myopathy nemaline i ka wā makua : Hiki i kēia ke hana i nā pilikia :
• Paʻakikī ka hanu ʻana.
• Ke paʻakikī i ka paʻa ʻana i ke poʻo i luna ma muli o ka nāwaliwali o nā ʻiʻo ʻāʻī.
• Nā pilikia maʻi puʻuwai.
• Hoʻonui mālie i ka nāwaliwali o nā ʻiʻo.
• ʻAmish nemaline myopathy : ʻO nā pilikia ma kēia kūlana e pili ana i ka nāwaliwali o nā mākala holomua, ka hāʻule ʻana o ka hanu, a me ka atrophy mākala .

No laila, no ka wā e hiki mai ana, pili ia i ke ʻano o ka maʻi a me ke koʻikoʻi o nā hōʻailona . Hiki i kekahi me ke ʻano maʻalahi loa o ka maʻi (maʻamau congenital nemaline myopathy) ke hele me ke kākoʻo ʻole. Eia nō naʻe, ʻo ka poʻe me ke ʻano koʻikoʻi loa (Amish nemaline myopathy) e ola pinepine no ʻelua mau makahiki.

Akā, mai hopohopo. ʻOiai ʻaʻohe lāʻau lapaʻau, me ka mālama kūpono, hiki i ka poʻe he nui me ka nemaline myopathy ke ola i kahi ola lōʻihi . Ma muli o ke ʻano o ka maʻi, hiki ke piʻi ka manaʻolana ola mai kekahi mau mahina a i ke ola holoʻokoʻa.

Pehea ʻoe e mālama ai iā ʻoe iho a i kāu keiki paha inā loaʻa iā lākou kēia maʻi?

Hiki iā ʻoe ke kōkua i ka hōʻemi ʻana i nā pilikia o kēia ʻano ma ka hana ʻana i kēia mau mea:

• E nānā pinepine i ka hana o kou puʻuwai.
• E ʻimi koke i ke kōkua lapaʻau a me ka lāʻau lapaʻau inā loaʻa iā ʻoe kahi maʻi ʻōpū hanu haʻahaʻa (e like me ka bronchitis , ka ʻūpā o ka umauma, ka pneumonia ).

Inā he mea lawe ʻoe i ka gene no kēia maʻi a ke manaʻolana nei hoʻi ʻoe e loaʻa kahi keiki, he manaʻo maikaʻi e hālāwai me kahi kākāʻōlelo genetic no ka ʻōlelo aʻoaʻo .

E hoʻomanaʻo ma ke ʻano he hōʻuluʻulu manaʻo

He maʻi laha ʻole ka Nemaline Myopathy (NM) e hoʻopilikia ana i nā ʻiʻo iwi. ʻO nā hōʻailona nui ka emi ʻana o ke kani o nā ʻiʻo a me ka nāwaliwali o nā ʻiʻo. Nui nā ʻano o kēia maʻi, kēlā me kēia me kahi ʻokoʻa o ka hoʻomaka ʻana a me ke koʻikoʻi o nā hōʻailona. ʻOiai ʻaʻohe lāʻau lapaʻau kikoʻī, aia nā lāʻau lapaʻau e hōʻemi i nā hōʻailona.. Hiki i ka hapa nui o ka poʻe me ke ʻano maʻamau (maʻamau congenital nemaline myopathy) ke ola kūʻokoʻa me ka mālama kūpono. ʻOkoʻa ka prognosis no nā ʻano ʻē aʻe ma muli o ke koʻikoʻi o nā hōʻailona. No laila, he mea nui loa ia e hahai i nā ʻōlelo aʻoaʻo lapaʻau a loaʻa ka mālama kūpono . Nemaline Myopathy, Nāwaliwali o ka ʻiʻo, nā maʻi genetic, nā maʻi pediatric, nā maʻi neuromuscular, nā pilikia hanu, Muscle Biopsy