E aʻo kākou e pili ana i ka nāwaliwali o nā ʻiʻo hānau (Congenital Myasthenic Syndrome - CMS)

Ua ʻike anei ʻoe i ka luhi koke ʻana o kahi keiki liʻiliʻi, ʻoiai ke pāʻani nei a i ʻole e hana ana i nā hana liʻiliʻi, a manaʻo e like me ka mea ʻaʻohe ona ikaika? Manaʻo paha ʻoe i kekahi manawa he paʻakikī ke ʻai, kamaʻilio, a ʻimo paha? Inā loaʻa iā ʻoe nā hōʻailona e like me kēia, ma muli paha o ka nāwaliwali o nā ʻiʻo hānau a mākou e kamaʻilio ai i kēia lā, ʻo ia hoʻi ka mea i kapa ʻia ʻo `(Congenital Myasthenic Syndrome)` a i ʻole `(CMS)` no ka pōkole. Mai hopohopo, e kamaʻilio kākou e pili ana i kēia me nā kikoʻī, me ka maʻalahi loa.

He aha ka `(Congenital Myasthenic Syndrome - CMS)`?

I ka ʻōlelo maʻalahi, ʻo `(CMS)` he hui o nā kūlana i loaʻa i ka wā hānau. ʻO ka mea nui e hana ʻia ma kēia, ʻo ia ka nāwaliwali o nā ʻiʻo i ka wā o ka hoʻoikaika kino, ʻo ia hoʻi, i ka wā e hana ai i kekahi mea. ʻO ka huaʻōlelo ``congenital`` ʻo ia hoʻi ``hānau ʻia mai ka hānau ʻana mai.''

E noʻonoʻo e pili ana i ia mea, ke hana mau mākou i kahi hoʻoikaika kino e like me ia, he mea maʻamau ke manaʻo iki i ka luhi. Akā no kekahi me ka `(CMS)`, ʻoiai ke hana nei i kahi mea liʻiliʻi, e like me ka hele wāwae a i ʻole ka pāʻani ʻana, lilo nā ʻiʻo i nāwaliwali a lilo i mea paʻakikī ke hoʻomau i kēlā hana. Eia naʻe, ke hoʻōki ʻoe i ka hana ʻana i kēlā hana a hoʻomaha no kekahi manawa, e ʻoi aku ka maikaʻi hou.

ʻO ka mea maʻamau, hoʻopilikia kēia ʻano i nā ʻiʻo o ka maka . ʻO ia hoʻi, nā ʻiʻo a mākou e hoʻohana ai e nau, moni, a ʻimo. Hiki iā ia ke hoʻopilikia i nā ʻiʻo ʻē aʻe (kapa mākou i kēia mau "ʻiʻo iwi") e kōkua iā mākou e neʻe a hele.

Hiki i nā hōʻailona ke akahai loa no kekahi poʻe, a koʻikoʻi loa no kekahi. I nā hihia koʻikoʻi, hiki ke hoʻoweliweli i ke ola, ʻoiai inā pili ia i nā ʻiʻo e kōkua iā ʻoe e hanu.

Ma hea e huikau ai ka leka ma waena o nā aʻalolo a me nā ʻiʻo!

Hana ko kākou mau ʻiʻo ma muli o nā leka mai nā aʻalolo. E like me ka mea e pono ai ke kuapo e hoʻā i ke kukui, pono ka ʻiʻo i kahi leka aʻalolo e hana ai. Aia kahi kūikawā kahi e hui ai kēia mau hunaola a me nā hunaola ʻiʻo a pili. Kāhea nā kauka i kēia ʻo ka "neuromuscular junction". E noʻonoʻo iā ia e like me kahi alahaka liʻiliʻi e hoʻoili i nā leka.

ʻO ka mea e hana ʻia i kekahi me ka `(CMS)` ʻo ia ka pilikia me kēlā alahaka, no laila ʻaʻole hele pono nā leka mai nā hunaola nerve i nā hunaola ʻiʻo. ʻO ia ke kumu e hana pono ʻole ai nā ʻiʻo a lilo i mea nāwaliwali.

Aia kekahi mau ʻano o `(CMS)`?

ʻAe, aia kekahi mau ʻano nui o kēia kūlana "(CMS)". Hoʻokaʻawale nā ​​kauka i kēia mau mea e like me kahi o ka pilikia ma ka "neuromuscular junction" aʻu i ʻōlelo ai ma mua, ʻo ia hoʻi, kahi e hui ai ke aʻalolo a me ka ʻiʻo.

ʻEkolu mau ʻano nui:

1. ʻO ka maʻi myasthenic congenital presynaptic: Aia ka pilikia i loko o ke kelepona nerve e hoʻouna ana i ka leka.

2. ʻO ka synaptic congenital myasthenic syndrome e kū mai ana ma ka hakahaka ma waena o ke kelepona nerve a me ke kelepona muscle:ʻO ka pilikia ma ʻaneʻi, ʻo ia ka hakahaka e like me ke alahaka.

3. Postsynaptic congenital myasthenic syndrome: ʻO ka pilikia ma kēia mea aia i loko o nā ʻiʻo e loaʻa ana ka leka.

Eia kekahi, i loko o kēlā me kēia o kēia mau ʻano, aia kekahi mau ʻano liʻiliʻi e pili ana i nā hemahema ma nā ʻāpana kikoʻī o ke hui, e like me ka "basal lamina" a i ʻole ka "acetylcholine receptor". He mau huaʻōlelo lapaʻau paʻakikī iki kēia, akā eia kahi manaʻo maʻamau.

Pehea ka maʻamau o kēia kūlana `(CMS)`?

He maʻi laha ʻole ka CMS. ʻAʻole nui ka ʻikepili e pili ana i kona maʻamau. Ua ʻike ʻia kahi noiʻi ma UK ua hoʻopilikia ia ma kahi o 9 o kēlā me kēia miliona mau keiki ma lalo o 18 mau makahiki. He helu haʻahaʻa loa kēlā.

He aha ka ʻokoʻa ma waena o `(CMS)` a me `(Myasthenia Gravis)`?

Ua lohe paha ʻoe i ka maʻi ʻo "Myasthenia Gravis." ʻO kēia mau maʻi ʻelua ke kumu o ka nāwaliwali o nā ʻiʻo ma muli o kahi pilikia me ke ʻano o ka hoʻouna ʻana o nā aʻalolo i nā leka i nā ʻiʻo. Akā aia kahi ʻokoʻa nui ma waena o nā mea ʻelua.

• (Congenital Myasthenic Syndrome - CMS): He maʻi hoʻoilina kēia. ʻO ia hoʻi, ua hoʻokumu ʻia e kahi loli hoʻoilina (`mutation`) i loaʻa i ka wā hānau.
• Myasthenia Gravis: He maʻi autoimmune kēia. ʻO ke ʻano kēia, ua kuhihewa ka ʻōnaehana pale ponoʻī o ko mākou kino i ka neuromuscular junction.

I ka ʻōlelo maʻalahi, he "pilikia me ka blueprint" (i loko o nā genes) ʻo CMS. ʻO ka Myasthenia Gravis kahi "kuhihewa" o ka ʻōnaehana pale o ke kino.

He aha nā hōʻailona o kekahi me ka `(CMS)`?

Hiki ke ʻokoʻa iki nā hōʻailona ma muli o ke ʻano o CMS, akā ʻo nā hōʻailona maʻamau ka mea:

• Lilo nā ʻiʻo i ka hana nui ʻana a nāwaliwali ke luhi ʻoe i ke kino. Luhi ʻoe ma hope o ka hana ʻana i kahi hana liʻiliʻi.
• Ka paʻakikī i ka hoʻokele ʻana a i ʻole ka nalowale ʻana o ke kaohi ʻana i nā ʻiʻo .
• Nā lihilihi maka e kulou ana (i kapa ʻia hoʻi he ptosis).
• ʻIke pālua .
• Me he mea lā ua huki ʻia ka maka i kekahi ʻaoʻao (maka palaualelo).
• Paʻakikī i ka ʻōlelo ʻana (hiki ke loli ka leo, hiki ke lilo i ʻōhū).
• Ka paʻakikī i ka ale ʻana i ka meaʻai.

Inā loaʻa i kahi keiki kekahi a ʻoi aku paha o kēia mau hōʻailona, ​​​​he mea nui loa e ʻimi i ke kōkua lapaʻau.

I ka makahiki hea e hoʻomaka pinepine ai nā hōʻailona o ka `(CMS)`?

Hoʻomaka pinepine nā hōʻailona o CMS i ka wā kamaliʻi, i ka wā kamaliʻi a i ʻole ke kamaliʻi . Inā lohi kāu keiki i ka hoʻomohala ʻana i nā mākau motor (no ka laʻana, lohi lākou i ke kolo, kū, a hele paha), he hōʻailona paha kēia o ke kūlana.

Eia nō naʻe, ʻo nā hōʻailona o kekahi mau ʻano `(CMS)`Hiki nō hoʻi ke ʻike ʻia ma hope iki mai, no ka laʻana, i ka wā ʻōpiopio a i ʻole ma hope o ka wā makua.

He aha nā kumu o ka `(CMS)`?

E like me kaʻu i ʻōlelo ai ma mua, ʻo ke kumu nui o ka `(CMS)` he loli genetic, ʻo ia hoʻi, he `(mutation).` Hoʻomalu ʻia nā mea āpau i loko o ko kākou kino e nā genes. No laila, inā he kīnā i loko o nā genes e kuhikuhi ana i ka hana ʻana o nā protein e kōkua ana i ke kaʻina hana o ka lawe ʻana i nā leka mai nā aʻalolo i nā ʻiʻo, e kū mai kēia kūlana `(CMS)`.

Aia kekahi mau genes i pili i kēia. Eia kekahi mau laʻana:

• `(CHRNE)`
• `(RAPSN)`
• `(KĀKĀLELO)`
• `(KOLOKOLO)`
• `(DOK7)`

ʻO kēia mau genes nā mea e kuhikuhi i nā cell e hana i nā protein e pono ai no ka hoʻololi ʻana i nā leka ma ka neuromuscular junction. Inā he `(mutation)` i loko o kēia mau genes, ʻo ia hoʻi, he loli, ʻaʻole loaʻa pono i nā cell nā kuhikuhi. A laila e hoʻopilikia ʻia nā leka ma kēlā alahaka. ʻO ia ke kumu o nā hōʻailona o `(CMS)`.

He mea anei ia i loaʻa mai ka hanauna `(CMS)`?

ʻAe, ʻo `(CMS)` kahi kūlana i hiki ke hoʻoilina ʻia mai kēlā hanauna a kēia hanauna.

Hoʻoilina pinepine ʻia ia ma ke ʻano "autosomal recessive". ʻO ke ʻano kēia, no ke keiki e loaʻa i ke ʻano, pono i nā mākua hānau ʻelua ke hoʻoilina i ka gene kīnā. ʻAʻole paha i loaʻa i nā mākua nā hōʻailona, ​​akā hiki iā lākou ke lilo i mau mea lawe.

Hiki ke hoʻoilina ʻia kekahi mau ʻano CMS ma ke ʻano autosomal dominant . I kēlā hihia, hiki i kahi keiki ke loaʻa i ke kūlana ʻoiai inā hoʻoilina lākou i ka gene kīnā mai hoʻokahi makua olaola wale nō .

Eia kekahi, i kekahi manawa hiki i kahi kanaka ke hoʻomohala i ka CMS ma muli o kahi mutation random , ʻoiai inā ʻaʻohe mea o ka ʻohana i loaʻa i ke ʻano ma mua.

ʻO wai ka mea i ʻoi aku ka pilikia o ka loaʻa ʻana o ka `(CMS)`?

Hiki i kekahi ke hoʻomohala i ka CMS. Eia nō naʻe, inā loaʻa i kekahi o kou ʻohana ke kūlana (mōʻaukala ʻohana biological), ʻoi aku ka nui o kou pilikia o ka loaʻa ʻana iā ia.

He aha nā pilikia i hoʻokumu ʻia e ka `(CMS)`?

Hiki i ke kūlana `(CMS)` ke hana i nā pilikia like ʻole. ʻO kekahi o lākou:

• Ka paʻakikī i ka omo ʻana a i ʻole ka ʻai ʻana (ʻoi aku hoʻi i nā pēpē).
• Nā ʻiʻo paʻakikī .
• Ka lohi o ka hala ʻana i nā hanana koʻikoʻi o ka ulu ʻana (ʻoi aku hoʻi i nā mākau neʻe).
• Ka hiki ʻole ke hele.
• Nā hoʻomaha hanu manawa ʻole (apnea).
• Nā ʻōhū ( like me ke kuʻi )
• Ke kīnā noʻonoʻo - ʻAʻole kēia e hana i nā kānaka a pau, i kekahi mau ʻano wale nō.
• Nā maʻi aʻalolo (neuropathy).
• Nā ʻano ʻē o ka metabolic .

ʻAʻole hiki mai kēia mau pilikia a pau i nā kānaka a pau. Aia ia i ke ʻano o ka CMS, kona koʻikoʻi, a me ka holomua o ka mālama ʻana.

Pehea e ʻike ai i ke kūlana `(CMS)`?

E ʻike pono ke kauka i ka CMS ma ka nānā pono ʻana iā ʻoe a me ka hana ʻana i nā hoʻokolohua ma kāu ʻōnaehana nerve. E nīnau ʻo ia e pili ana i kāu mau hōʻailona a lawe i kahi mōʻaukala olakino piha (e like me ka loaʻa ʻana o kēia maʻi i kekahi o kou ʻohana).

Inā kānalua ʻoe he CMS kou, e noi paha kāu kauka iā ʻoe e hana i kekahi mau hana kino māmā i mua ona (no ka laʻana, piʻi i nā alapiʻi) e ʻike pehea e pane ai kou kino.

Eia kekahi, hiki ke hana ʻia kekahi mau hoʻokolohua e kāpae i nā kūlana ʻē aʻe e hiki ai ke hoʻoulu i nā hōʻailona like:

• Nā hoʻāʻo koko .
• Haʻawina hoʻoili aʻalolo - He hoʻāʻo e ana i ka wikiwiki o ka hele ʻana o nā leka ma o nā aʻalolo.
• Electromyography (EMG) - He hoʻokolohua e ana i ka hana uila o nā ʻiʻo.

Hoʻāʻo ʻana i ka genetics no `(CMS)`

He hoʻāʻo koʻikoʻi loa ka hoʻāʻo ʻana i ka genetics no ka ʻike ʻana i ka CMS. Kōkua ia i ka ʻike ʻana i ka loli kikoʻī o ka gene e hoʻoulu ai i kāu mau hōʻailona. E lawe kāu kauka i kahi hāpana liʻiliʻi o kou koko a hoʻāʻo i ka DNA i loko. ʻO ka ʻike ʻana i ke ʻano o ka CMS āu a me kahi o ka neuromuscular junction ka pilikia hiki ke kōkua i kāu kauka e hoʻolālā i kāu lāʻau lapaʻau.

Pehea e mālama ʻia ai ka `(CMS)`?

ʻAʻohe lāʻau lapaʻau no CMS i kēia manawa. Eia nō naʻe, aia nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a hoʻomaʻalahi i ke ola.

Hoʻohana pinepine ʻia nā lāʻau lapaʻau e mālama a hoʻomaikaʻi paha i ka hana ʻiʻo. Hiki i kāu kauka ke kuhikuhi i nā lāʻau lapaʻau e like me:

• Nā agonists Cholinergic (e.g. pyridostigmine, amifampridine a i ʻole 3,4-diaminopyridine).
• Nā mea ālai kahawai hāmama (e like me fluoxetine a i ʻole quinidine).
• Nā agonists Adrenergic (e.g. salbutamol a i ʻole ephedrine).

He mea nui: Mai hoʻohana i kēia mau lāʻau lapaʻau me ka ʻole o ke aʻo ʻana a ke kauka. Eia kekahi, ʻaʻole hana nā lāʻau lapaʻau āpau no nā ʻano `(CMS)` āpau. No laila, he mea nui ka ʻike kūpono a me ke aʻo ʻana a ke kauka.

ʻOiai paha e hoʻonui ka hana kino i nā hōʻailona, ​​hiki i kāu kauka ke kuhikuhi iā ʻoe i kahi mea hoʻoponopono kino.E ʻike i nā hoʻoikaika kino a me nā hana e palekana, akahai, a kūpono hoʻi iā ʻoe. E kōkua kēia i ka pale ʻana i ka ʻoʻoleʻa o nā ʻiʻo a mālama i ke olakino maikaʻi.

Pono paha kekahi poʻe e hoʻohana i nā mea kōkua e hana i nā hana o kēlā me kēia lā. Eia kekahi laʻana, hiki i ka hoʻohana ʻana i ka noho huila ke kōkua i ka pale ʻana i nā ulia a me ka maʻalahi o ka hele ʻana a puni.

Aia kekahi mau hopena ʻaoʻao o ka lāʻau lapaʻau?

E like me nā lāʻau lapaʻau āpau, hiki i nā lāʻau lapaʻau no ka `(CMS)` ke hana i kekahi mau hopena ʻaoʻao. ʻOkoʻa kēia ma muli o ke ʻano o ka lāʻau lapaʻau. ʻO kekahi o nā hopena ʻaoʻao maʻamau:

• ʻŌpū ʻeha.
• Ka hopena alerika.
• Nā pilikia hanu.
• Ka maʻi pākī.
• Ka luhi nui loa.
• Hoʻonui ʻia ka hana ʻana o ka saliva a i ʻole ka hou.
• Nā loli o ka ʻike.

Ma mua o ka hoʻomaka ʻana i kekahi lāʻau lapaʻau, e kamaʻilio me kāu kauka e pili ana i nā hopena ʻaoʻao a e hoʻomaopopo pono. A laila hiki iā ʻoe ke hana i nā hoʻoholo naʻauao e pili ana i kou olakino.

He aha ka manaʻo no kekahi me `(CMS)`? (Wānana)

ʻOkoʻa loa nā hōʻailona o CMS mai kēlā kanaka a kēia kanaka. Loaʻa paha i kekahi poʻe nā hōʻailona palupalu loa ʻaʻole ia e hoʻopilikia i ko lākou ola. Hiki i kekahi ke ʻike i nā hōʻailona koʻikoʻi e hoʻoweliweli i ke ola, e like me ka paʻakikī o ka hanu ʻana . Hiki i kāu kauka ke hāʻawi iā ʻoe i ka ʻike maikaʻi loa no kou kūlana.

Ke hoʻopilikia nei anei ka `(CMS)` i ke ola o ke kanaka?

Hiki paha i ka CMS ke hoʻopilikia i kou ola a i ʻole ʻaʻole paha. Inā he mau hōʻailona iki kou, ʻaʻole paha he hopena koʻikoʻi ka CMS i kou olakino holoʻokoʻa. Eia nō naʻe, inā hoʻopilikia nā hōʻailona i nā ʻiʻo e kaohi ana i kou hanu ʻana, hiki iā ia ke hoʻopilikia i kou ola a pau. E kōkua kāu hui lapaʻau iā ʻoe e hoʻokele i kāu mau hōʻailona e pale aku i nā pilikia e hoʻoweliweli ana i ke ola.

Hiki ke pale ʻia ka `(CMS)`?

A hiki i kēia manawa, ʻaʻohe ala i loaʻa e pale aku ai i ke kūlana ``(CMS)``.

Inā ʻoe e hoʻolālā ana e hoʻomaka i kahi ʻohana, hiki iā ʻoe ke ʻike i ke kauka no ke aʻoaʻo genetic e aʻo hou e pili ana i ka pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi genetic.

Eia kekahi, inā loaʻa iā ʻoe ka CMS, e haʻi mau i kāu kauka ma mua o ka hoʻomaka ʻana i kekahi lāʻau lapaʻau hou. Hiki i kekahi mau lāʻau lapaʻau (no ka laʻana, kekahi mau antibiotics, nā lāʻau lapaʻau puʻuwai, a me nā lāʻau lapaʻau noʻonoʻo) ke hoʻonui i nā hōʻailona CMS. Inā hana ʻia kēia, hiki i kāu kauka ke kuhikuhi i nā lāʻau lapaʻau ʻē aʻe.

Āhea wau e ʻike ai i ke kauka?

Inā ʻike ʻoe a i ʻole kāu keiki i nā hōʻailona o ka nāwaliwali o nā ʻiʻo (CMS) i ka wā o ka hana kino, e ʻike koke i ke kauka.

No kāu keikiInā ʻaʻole hiki i kāu keiki ke ʻai a i ʻole ua lohi paha i ka hiki ʻana i nā pae hoʻomohala, e haʻi i ke kauka o kāu keiki.

Pilikia! Inā pilikia ke keiki i ka hanu ʻana, a inā paha e lilo ka ʻili, nā lehelehe, a i ʻole nā ​​​​kui lima i keʻokeʻo a polū-hina (`cyanosis`), e kāhea koke i ka 911, a i ʻole e lawe iā lākou i ka ʻoihana pilikia o ka haukapila kokoke loa.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

Ma hope o kou ʻike ʻia ʻana a i ʻole kāu keiki me CMS, nui paha kāu mau nīnau. Mai makaʻu e nīnau i kāu kauka e pili ana iā lākou. Eia kekahi mau laʻana:

• He aha ke ʻano o ka `(CMS)` a kaʻu/kaʻu keiki?
• He aha nā lāʻau lapaʻau āu e paipai nei?
• He aha nā hopena ʻaoʻao o kēia mau lāʻau lapaʻau?
• Inā loaʻa i kaʻu keiki ka `(CMS)`, hiki iā ia ke komo i nā haʻuki a i ʻole nā ​​hana ʻē aʻe?

ʻAʻole like nā hōʻailona o CMS no nā kānaka a pau. I kekahi manawa, hiki i nā mea e like me ka piʻi ʻana i nā alapiʻi a me ka hoʻoikaika kino ke lilo i mea paʻakikī iki. Hiki i kāu kauka ke ʻōlelo aku i ka hoʻohana ʻana i nā mea kōkua, e like me ka noho huila, e kōkua i ka pale ʻana i ka hāʻule ʻana a i ʻole nā ​​​​ʻeha.

ʻO nā keiki i loaʻa i kēia maʻi, e lōʻihi iki paha ka manawa e hoʻomaopopo ai i nā hanana koʻikoʻi o ka ulu ʻana, ʻoiai hoʻi nā mākau neʻe e like me ka hele wāwae, ke hoʻohālikelike ʻia me nā keiki ʻē aʻe o ko lākou mau makahiki. Inā ʻike ʻoe i kēia e hana ana i kāu keiki, e kamaʻilio me kāu kauka.

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

ʻOiai ʻo ka Congenital Myasthenic Syndrome (CMS) kahi maʻi kakaikahi e hoʻoulu ai i ka nāwaliwali o nā mākala i loaʻa i ka wā hānau, me ka ʻike pono ʻana a me ka mālama ʻana, hiki i ka hapa nui o ka poʻe ke ola i ke ola maʻamau.

• E makaʻala i nā hōʻailona: E makaʻala pono i nā mea e like me ka lohi o ka ulu ʻana o nā keiki a me ka luhi nui i ka wā o ka hoʻoikaika kino.
• E ʻimi i ke kōkua lapaʻau: Inā kānalua, he mea nui e ʻike i ke kauka e loaʻa ai kahi hōʻailona kūpono.
• E hahai pono i kāu lāʻau lapaʻau: E hahai pono i nā ʻōlelo aʻoaʻo a kāu kauka a me nā lāʻau lapaʻau. Inā ʻōlelo lākou i nā mea e like me ka hoʻōla kino, mai hōʻalo iā lākou.
• E noho maikaʻi: Hiki ke paʻakikī ke noho me kēia maʻi, akā ʻaʻole ʻoe hoʻokahi. Aia nā kauka, nā mea hoʻōla, a me nā poʻe aloha e hiki ke kōkua iā ʻoe.

ʻO kāu hui lapaʻau kahi kūpono loa e kōkua iā ʻoe e hoʻomaopopo i kou kūlana a me nā lāʻau lapaʻau kūpono iā ʻoe. No laila, mai makaʻu e nīnau i kāu mau nīnau a kaʻana like i kou mau hopohopo.

ʻO ka Congenital Myasthenic Syndrome, CMS, nāwaliwali o nā ʻiʻo, nā maʻi genetic, neuromuscular, nā maʻi pediatric, nā kīnā hānau