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He aha ka maʻi Charcot-Marie-Tooth (CMT)? E kamaʻilio maʻalahi kākou e pili ana!

He aha ka maʻi Charcot-Marie-Tooth (CMT)? E kamaʻilio maʻalahi kākou e pili ana!

Ke manaʻo nei ʻoe i kekahi manawa ua mae iki kou mau lālā, a ua nāwaliwali iki paha kou mau ʻiʻo? Malia paha ua hihia kou mau wāwae i kou hele ʻana, a i ʻole ke manaʻo nei ʻoe he loli iki ke ʻano o kou mau wāwae? ʻO kekahi o nā kumu o kēia mau mea ʻo ia ka maʻi Charcot-Marie-Tooth (CMT) , a mākou e kamaʻilio nei i kēia lā. He mea ʻē paha kēia inoa, akā he mea nui loa ia e ʻike e pili ana i ia mea.

No laila, he aha kēia Shako-Marie-Tooth (CMT)?

I ka ʻōlelo maʻalahi, ʻo CMT kahi maʻi e hoʻopilikia ai i nā aʻalolo e kāohi ana i nā ʻiʻo o ko mākou kino. Hoʻokumu nui ʻia ia e kahi hoʻololi genetic. ʻO ia hoʻi, hiki iā ʻoe ke hoʻoilina i kēia gene mai kou makuahine, kou makuakāne, a i ʻole nā ​​​​mea ʻelua.

ʻO CMT kekahi o nā neuropathy peripheral genetic maʻamau. ʻO "nā aʻalolo peripheral" e pili ana i nā aʻalolo āpau e puka mai ana mai ko mākou lolo a me ke kaula spinal (ʻo ia hoʻi, ka ʻōnaehana nerve waena). Ua like kēia mau aʻalolo me nā alanui e alakaʻi ana mai nā kūlanakauhale nui o ko mākou ʻāina a i nā wahi mamao. ʻO kēia mau aʻalolo ka mea e lawe i nā manaʻo i ko mākou mau lālā, nā manamana lima, a me nā ʻiʻo.

ʻO wai ka mea i hoʻopilikia nui ʻia e kēia maʻi?

Hiki i kēia maʻi i kapa ʻia ʻo CMT ke hoʻopilikia i nā kānaka o kēlā me kēia lāhui a i ʻole ka lāhui. Hoʻopilikia like ia i nā kāne a me nā wahine. Eia nō naʻe, ua manaʻo ʻia he maʻi laha ʻole ia ma ka honua holoʻokoʻa. Hōʻike ka noiʻi ua kokoke i hoʻokahi miliona mau kānaka ma ka honua holoʻokoʻa e ʻeha nei i kēia maʻi.

Pehea ka hopena o CMT i ko mākou kino?

No ka hoʻomaopopo ʻana i kēia, pono mua mākou e ʻike iki e pili ana i kā mākou mau hunaola nerve, a i ʻole neurons . Ua like nā neurons me nā ʻelele liʻiliʻi e lawe ana i ka ʻike a puni ko mākou kino.

He mea hou aʻe e pili ana i nā neurons

He nui nā ʻāpana nui o kēlā me kēia neuron:

  • Kino kelepona: Ua like kēia me ke kikowaena mana nui o ka neuron.
  • ʻAxon: ʻO kēia ka ʻāpana lōʻihi e like me ka lima e puka ana mai ke kino o ke kelepona. E noʻonoʻo e like me ka uea uila. ʻO kēia kahi e hele ai nā hōʻailona uila. Ma ka hopena o ka axon he mau ʻano liʻiliʻi e like me nā manamana lima i kapa ʻia ʻo synapses . Hoʻololi kēia mau synapses i nā hōʻailona uila i nā hōʻailona kemika a hoʻouna i ka ʻike i nā neurons kokoke ʻē aʻe.
  • Nā Dendrites: He mau ʻano liʻiliʻi kēia, e like me nā lālā e puka mai ana mai ke kino o ke kelepona. Ua kapa ʻia lākou pēlā no ka mea ua like lākou me nā lālā o kahi lāʻau. Loaʻa i kēia mau dendrites nā hōʻailona kemika mai nā neurons ʻē aʻe.
  • Myelin: ʻO kēia ka ʻūpā momona pale e hoʻopuni ana i nā axons o ka hapa nui o nā neurons. Ua like ia me ka uhi plastik a puni kahi uea uila. ʻAe kēia ʻūpā myelin i nā hōʻailona e hele wikiwiki ma ke axon.

I kēia manawa, i ka maʻi CMT, ua hōʻino ʻia kēia mau neurons ma nā ʻano nui ʻelua.

1. Ka nalowale o ka Myelin:Hiki i ka CMT ke hōʻino i kēia ʻupena myelin i kekahi manawa. A i ʻole ʻaʻole paha e hana pono ʻia ka myelin ma kahi mua. Eia nō naʻe, hoʻolohi kēia i ka wikiwiki o ka hele ʻana o nā hōʻailona aʻalolo. Ua like ia me kahi uea me kahi uhi plastik haki e kahe ana ke au.

2. Nā pilikia axon: Ke hoʻomaka ka emi ʻana a nāwaliwali paha o nā axon ma muli o CMT, e emi ana ka ikaika o nā hōʻailona e hele ana ma o kēlā neuron.

I kekahi mau ʻano CMT, ua emi iki ka wikiwiki o nā hōʻailona aʻalolo, akā ua lawa kēlā e hōʻike i nā hōʻailona. Akā, paʻakikī ke ʻōlelo maopopo inā paha ka pilikia me ka myelin a i ʻole ka axon. Ua kapa ʻia kēia mau ʻano e nā loea he "waena".

ʻAʻole like ka lōʻihi a i ʻole ka nui o nā neurons āpau i loko o ko kākou kino. ʻO nā neurons lōʻihi loa e holo ana ma ko kākou kaula kuamoʻo a hiki i ko kākou mau wāwae a me nā wāwae, ʻo ia nā mea i hoʻopilikia mua ʻia ma CMT . Hiki ke hoʻopilikia ʻia nā lima a me nā lima, akā ʻaʻole kēia e hana pinepine ʻia i ka wā mua o ka maʻi.

He aha nā hōʻailona o ka maʻi CMT?

Hoʻomaka pinepine nā hōʻailona o CMT i ka wā ʻōpio, ma kahi o ka makahiki he ʻumi a ʻumikūmālua paha . Eia nō naʻe, hiki iā lākou ke hoʻomaka ma mua, i ka wā kamaliʻi, a i ʻole i ka makahiki waena. ʻIke mālie ʻia nā hōʻailona, ​​e piʻi mālie ana i ka hala ʻana o ka manawa.

ʻElua ʻano nui o nā hōʻailona ma CMT, ma muli o nā hōʻailona aʻalolo i hoʻopilikia ʻia. Ua kapa ʻia kēia mau hōʻailona he motor a me he sensory .

  • Nā hōʻailona mīkini: ʻO kēia nā hōʻailona e hele mai ko mākou lolo a i ko mākou mau ʻiʻo. Ke haʻi aku nei kēia mau hōʻailona i ko mākou mau ʻiʻo e "neʻe i ʻaneʻi a i ʻaneʻi." No laila, i ka wā e pilikia ai ka hoʻoili ʻana o kēia mau hōʻailona mīkini, ʻaʻole hiki iā mākou ke hoʻomalu pono i ko mākou mau ʻiʻo. ʻOi loa aku hoʻi i ko mākou mau lālā.
  • Ka nāwaliwali o nā ʻiʻo.
  • Malia paha nā kūlana e like me ka maʻi lolo .
  • ʻO ka atrophy o nā uaua ka emi ʻana o nā ʻiʻo uaua .
  • Ua emi a nalowale paha nā reflexes.
  • ʻO nā kīnā o ka manamana wāwae, no ka laʻana, kahi kūlana i kapa ʻia ʻo nā hammertoes .
  • Hāʻule ka wāwae , ʻo ia hoʻi ka hiki ʻole ke hāpai i ke kapuwaʻi o ka wāwae a hāʻule i lalo, a i ʻole ke piʻo o ka wāwae e piʻi ana i luna loa.
  • Nā hele pinepine a me nā hāʻule ʻana ma muli o nā loli i ke ʻano o ka hele wāwae ( nā maʻi gait ).
  • Nā ʻeha pinepine o ke kuʻekuʻe wāwae .
  • Paʻakikī ka hanu ʻana (ʻike pinepine ʻia kēia i nā hihia koʻikoʻi).
  • Nā hōʻailona sensory: ʻO kēia nā hōʻailona e hele i ka lolo mai nā ʻāpana like ʻole o ko mākou kino. Ke haʻi aku nei kēia mau hōʻailona i ka lolo, "Penei ke ʻano o kēia." No laila, i ka wā e loaʻa ai kahi pilikia me kēia mau hōʻailona sensory, ʻike mākou i nā loli i nā manaʻo ma ko mākou mau wāwae haʻahaʻa, nā wāwae, a me nā lima.
  • Ka mae a me ke ʻāʻī ʻana paha .
  • Ka nalowale ʻana o ka manaʻo o ka mehana a i ʻole ka ʻeha ma nā wāwae lalo, nā kapuaʻi wāwae, a i ʻole nā ​​poho lima.
  • He manaʻo e like me kekahi mea e kolo ana ma kuʻu mau wāwae.
  • ʻEha mau loa .
  • Ka emi ʻana a i ʻole ka nalowale ʻana o ka ʻike ma nā ʻano ʻē aʻe, ʻoiai ka ʻike a me ka lohe (ʻaʻole maʻamau kēia mau mea, ʻike wale ʻia ma kekahi mau ʻano o CMT).

He aha ke kumu o CMT?

Loaʻa i kēlā me kēia ʻaʻalolo i loko o ko kākou kino kahi mea i kapa ʻia ʻo DNA . Ua like kēia DNA me kahi puke kuhikuhi. ʻO kēia DNA ka mea e hāʻawi i nā ʻōlelo kuhikuhi i nā ʻaʻalolo e hana pono i kā lākou hana. Ua like ka hoʻololi ʻana o ka genetic me kahi hewa i loko o kahi leka i loko o kēia puke kuhikuhi DNA. Hahai pololei kā mākou mau ʻaʻalolo i nā kuhikuhi i loko o kēia DNA. No laila, ma muli o ia mau hoʻololi ʻana, hoʻomaka nā ʻaʻalolo e hana hewa. Pēlā e ulu ai ʻo CMT.

Hiki ke hoʻokumu ʻia ʻo CMT e nā mutations i loko o hoʻokahi gene a i ʻole e nā mutations i loko o nā genes he nui. Ua ʻike nā kānaka noiʻi i nā ʻumi o nā mutations genetic e hoʻoulu ai i nā ʻano CMT like ʻole.

ʻElua mau ala nui e hiki ai iā ʻoe ke loaʻa kahi mutation DNA:

  • Hoʻoilina: Loaʻa iā ʻoe kēia mau hoʻololi DNA mai kou makuahine, kou makuakāne, a i ʻole nā ​​​​mea ʻelua.
  • Kū koke: Hana ʻia kēia mau hoʻololi ʻana i kou wā e ulu ana ma ke ʻano he fetus i loko o ka ʻōpū o kou makuahine. I kekahi manawa ua kapa ʻia kēia mau hoʻololi "de novo", ʻo ia hoʻi "hou."

Aia kekahi mau ʻano like ʻole o CMT?

ʻAe, ʻehiku mau ʻano nui o CMT. Eia nō naʻe, ʻo ke ʻano CMT 1 (CMT1) a me ke ʻano CMT 2 (CMT2) nā mea maʻamau. ʻOi aku ka kakaikahi o nā ʻano ʻē aʻe.

  • ʻAno CMT 1 (CMT1): Hoʻopilikia kēia ʻano i ka myelin, no laila hele mālie nā hōʻailona. ʻIke pinepine ʻia nā hōʻailona ma waena o nā makahiki 10 a me 40. Eia nō naʻe, hiki i kekahi poʻe ke noho me ka ʻole o nā hōʻailona no nā makahiki he ʻumi. ʻO kēia ke ʻano maʻamau o CMT. ʻOi aku ka pinepine o ia ma mua o CMT2.
  • CMT2: Hoʻopilikia kēia ʻano i nā axons. He nāwaliwali nā hōʻailona aʻalolo a hiki ke hele mālie iki. Ma kahi o ka hapakolu o nā maʻi CMT e hāʻule i kēia ʻano.

Ma waho aʻe o kēia, aia kekahi mau ʻano ʻē aʻe o CMT:

  • ʻO CMT3 (i kapa ʻia hoʻi ʻo ka maʻi ʻo Dejerine-Sottas ).
  • CMT X-linked (CMTX).
  • CMT Waena Dominant (CMTDI).
  • ʻO ka CMT waena recessive (CMTRI).

He maʻi lele anei kēia?

ʻAʻole, ʻaʻole he maʻi lele ʻo CMT. ʻAʻole hiki ke laha mai kekahi kanaka a i kekahi kanaka.

Pehea e ʻike pololei ʻia ai ka maʻi CMT?

No ka ʻike pono ʻana i ke ʻano o ka CMT āu a me kona koʻikoʻi, pono ke kauka e hoʻohana i kekahi mau ʻano hana, me ka hoʻokolokolo kino a me ka neurological ., nā hoʻokolohua hoʻokolohua, nā hoʻokolohua kiʻi, a me nā hoʻokolohua diagnostics ʻē aʻe. E nīnau pū ke kauka e pili ana i kou mōʻaukala olakino ʻohana, kou mau hōʻailona, ​​a me ka ʻike e pili ana i ke ʻano o ka nohona.

He aha nā ʻano hoʻokolohua i hana ʻia no kēia?

Inā manaʻo ʻoe he CMT kou, ʻoi aku ka nui o kēia mau hoʻokolohua iā ʻoe:

  • ʻO ka Electromyogram (EMG) , ʻo ia hoʻi nā hoʻāʻo hoʻoili aʻalolo , e ana i ka wikiwiki a me ka ikaika o kou mau aʻalolo e alakaʻi i nā hōʻailona.
  • Ka hoʻāʻo ʻana i ka genetic: Hiki i kēia ke ʻike inā he mau hoʻololi genetic e hoʻoulu ai iā CMT.
  • ʻO ke kī ʻana o ka iwi kuamoʻo / lumbar puncture: Hoʻohana ʻia kēia e nānā i ka wai cerebrospinal. ʻAʻole hana ʻia kēia no nā mea āpau.
  • Kiʻi Hoʻohui Makeneka (MRI) .
  • Hoʻokolokolo ʻana o ka ultrasound .
  • Nā hoʻokolohua hiki ke hoʻāla ʻia: Kōkua kēia i ka ʻike inā he mau ʻano like ʻole o CMT, ʻoiai nā mea e pili ana i ka lohe a me ka ʻike.
  • ʻO ka biopsy aʻalolo: ʻAʻole hana pinepine ʻia kēia. Pili ia i ka lawe ʻana i kahi ʻāpana liʻiliʻi mai kahi aʻalolo a nānā iā ia.

He aha nā lāʻau lapaʻau no CMT? Hiki ke ho'ōla loa ʻia?

I ka ʻoiaʻiʻo, ʻaʻohe ala e hoʻōla loa ai i ka CMT a i ʻole e mālama pololei i ka maʻi . Eia nō naʻe, hiki ke mālama ʻia nā hōʻailona a me nā hopena i hoʻokumu ʻia e kēia maʻi.

He aha ke ʻano o ka lāʻau lapaʻau/lāʻau lapaʻau e hoʻohana ʻia nei?

ʻO nā lāʻau lapaʻau i hoʻohana pinepine ʻia no CMT:

  • Hoʻoikaika kino a me ka hoʻoikaika hana: Hiki i kēia ke kōkua iā ʻoe e hoʻoikaika i kou mau ʻiʻo, hoʻomaikaʻi i kou kaulike, a maʻalahi i nā hana o kēlā me kēia lā.
  • Nā mea kōkua neʻe e like me nā pale wāwae , nā mea hele wāwae , a me nā noho huila .
  • Nā kāmaʻa kūikawā e hoʻololi i nā loli i ke ʻano o nā wāwae.
  • ʻO ke ʻoki kino e hoʻoponopono i nā loli i ke ʻano o nā lima, nā wāwae, nā pūhaka, a i ʻole ke kua.
  • Nā lāʻau lapaʻau no kekahi mau hōʻailona, ​​ʻoi aku ka ʻeha mau.

Aia kekahi mau lāʻau lapaʻau ʻē aʻe i loaʻa no CMT, akā ʻokoʻa lākou ma muli o ke ʻano kikoʻī o ka maʻi. Hiki i kāu kauka ke aʻo iā ʻoe i nā lāʻau lapaʻau e kōkua nui loa iā ʻoe, no ka mea hiki iā lākou ke hoʻopilikino i ka ʻike i kou kūlana a me nā pono kikoʻī.

E haʻi aku nō hoʻi kāu kauka iā ʻoe e pili ana i nā hopena ʻaoʻao a me nā pilikia e hiki mai ana me nā ʻano lāʻau like ʻole, a me ka lōʻihi o ka manawa e hoʻōla ai a hoʻi i ke ola maʻamau.

He aha kāu e manaʻo ai i ka wā e noho pū ai me CMT? He aha ka mea e hiki mai ana?

Ma keʻano laulā, ʻaʻole he kūlana weliweli loa ʻo CMT.Akā, hiki i kekahi o nā ʻano ʻoi aku ka koʻikoʻi o ka maʻi ke hoʻoweliweli i ke ola. He nui ka poʻe me CMT e pilikia ana i ka hele ʻana, ka neʻe ʻana, a i ʻole ka ʻike ʻana i kekahi mau manaʻo. Akā, ʻaʻole pinepine kēia mau mea e hoʻopōkole i ko lākou ola. Me nā mea kōkua kūikawā, ʻoiai nā pale wāwae a me nā kuʻekuʻe wāwae a i ʻole nā ​​kāmaʻa, hiki i ka poʻe he nui me CMT ke ola i kahi ola maʻamau a alakaʻi i nā ola hauʻoli a hoʻokō.

E hoʻomanaʻo, hiki iā ʻoe ke ola i kahi ola maikaʻi me CMT. ʻO ka mea wale nō āu e pono ai he ʻōlelo aʻoaʻo lapaʻau kūpono a me ke kākoʻo.

I nā ʻano koʻikoʻi o ka maʻi, ʻo ka mea weliweli loa ka nāwaliwali o nā ʻiʻo e kāohi ana i ka hanu ʻana a me ke ale ʻana. Hiki i kēia ke alakaʻi i ka hāʻule ʻana o ka hanu , ka maʻi pneumonia, a me nā kūlana hoʻoweliweli ola. ʻOi aku ka nui o ka hiki ʻana mai o kēia mau kūlana koʻikoʻi inā hoʻomaka nā hōʻailona CMT i ka wā mua o ke ola, ʻoi aku hoʻi i ka wā kamaliʻi.

Pehea ka lōʻihi o ka manawa e mau ai ʻo CMT?

He maʻi mau loa ʻo CMT no ke ola holoʻokoʻa . Hānau ʻia ʻoe me ia, akā ʻaʻole ka hapa nui o ka poʻe e loaʻa nā hōʻailona a hiki i ko lākou wā makua. ʻAʻohe lāʻau lapaʻau i kēia manawa, a ʻaʻole ia e hoʻomaikaʻi iā ia iho.

Aia kekahi ala e pale aku ai i ka ulu ʻana o CMT?

ʻO ka maʻi Shaklo-Marie-Tooth kahi mea āu e hoʻoilina ai a i ʻole kahi mea i hiki koke ʻole ʻia. No laila, ʻaʻohe ala e pale aku ai a hōʻemi paha i ka pilikia o ka loaʻa ʻana .

ʻOiai ʻaʻole hiki ke pale ʻia ka CMT, hiki i ka hoʻāʻo ʻana i ka genetic a me ke aʻo ʻana ke kōkua iā ʻoe e ʻike inā pilikia kāu mau keiki i ka loaʻa ʻana. Hiki i kāu kauka a i ʻole ke kākāʻōlelo genetic ke haʻi hou aku iā ʻoe e pili ana i kēia.

He aha ka mea e hana ai inā hāpai kekahi me CMT?

Hiki i ka hapa nui o ka poʻe me CMT ke loaʻa nā keiki. Eia nō naʻe, hiki ke loaʻa kekahi mau pilikia a ʻoi aku paha ka nui o ka hiki ke loaʻa. Pono paha ka nui o nā wahine hāpai me CMT i ka mālama hou aku i ka wā hāpai a hānau keiki paha. Loaʻa iā lākou kahi pilikia kiʻekiʻe iki o ke kahe ʻana o ke koko ma hope o ka hānau ʻana.

E haʻi aku kāu kauka iā ʻoe i nā mea hou aʻe e pili ana i kēia iā ʻoe a me nā mea hiki iā ʻoe ke hana. Hiki iā lākou ke kuhikuhi iā ʻoe i nā loea, ʻoiai nā kauka lapaʻau makuahine-fetus e loea ana i nā hāpai paʻakikī.

Pehea e hiki ai iaʻu ke mālama iaʻu iho a hoʻokele i kaʻu mau hōʻailona?

Inā loaʻa iā ʻoe ʻo CMT, ʻo kāu kauka ke kumu maikaʻi loa o ka ʻike e pili ana i nā mea hiki iā ʻoe ke hana a me nā mea e pono ai ke hana e mālama iā ʻoe iho a hoʻokele i kēia kūlana. Hiki iā lākou ke nānā i ka holomua o kou kūlana a hāʻawi i nā ʻōlelo aʻoaʻo a i ʻole nā ​​​​​​hoʻolālā e kōkua iā ʻoe.

ʻO ka maʻamau, pono ʻoe e hana i kēia mau mea:

  • E ʻike i kāu kauka e like me ka mea i ʻōlelo ʻia. He mea nui loa kēia no ka mea hiki i kāu kauka ke ʻike i ke ʻano o ka holomua ʻana o kou kūlana a pehea kona hopena iā ʻoe. Hiki paha iā lākou ke hoʻololi i kāu hoʻolālā lapaʻau a hāʻawi i nā manaʻo e pili ana i nā mea e kōkua paha iā ʻoe.
  • E hahai pono i kāu hoʻolālā lapaʻau. ʻO ia hoʻi ka lawe ʻana i kāu mau lāʻau lapaʻau a me ka hoʻohana ʻana i kāu mau lako lapaʻau e like me ke kauoha a kāu kauka. He mea nui loa kēia mau mea, no ka mea hiki iā lākou ke kōkua iā ʻoe e hōʻoluʻolu i kāu mau hōʻailona a i ʻole e hoʻolohi i ka wikiwiki o ka ʻino ʻana o kekahi mau hōʻailona.
  • E pale i nā lāʻau lapaʻau a i ʻole nā ​​mea e hōʻino ai i ka ʻōnaehana nerve (nā mea neurotoxic). ʻO kēia nā mea he nui ka pilikia o ka hōʻino ʻana i kāu ʻōnaehana nerve. E haʻi aku paha kāu kauka iā ʻoe e kaupalena a hoʻōki paha i ka inu ʻana i ka waiʻona. No ka mea, ʻo ka inu nui ʻana i ka waiʻona hiki ke hōʻino i ka ʻōnaehana nerve.

Āhea ʻoe e ʻike ai i ke kauka? Āhea ka manawa e pono ai ka mālama ʻana i ka pilikia?

E hoʻonohonoho kāu kauka i nā kipa hahai maʻamau e nānā i kou kūlana a me nā hōʻailona. Eia kekahi, inā ʻike ʻoe i kekahi mau loli i kāu mau hōʻailona, ​​​​ʻoiai inā hoʻopilikia lākou i kāu mau hana maʻamau, pono ʻoe e ʻike i kāu kauka.

Āhea ʻoe e hele ai i ka haukapila (ETU) no ka mālama ʻana i ka pilikia?

ʻAʻole pono ka hapa nui o ka poʻe me CMT i ka mālama ʻana i ka pilikia, ke ʻole lākou e pilikia i ka hoʻomalu ʻana i ko lākou mau ʻiʻo wāwae a hāʻule. Inā hāʻule ʻoe, pono ʻoe e ʻimi i ke kōkua lapaʻau inā he pilikia o ka hōʻeha ʻana i kou poʻo , ʻāʻī, a i ʻole ke kua . ʻO kēia no ka mea hiki i ka CMT ke hoʻoulu i nā pilikia koʻikoʻi inā ua hōʻino ʻia kekahi ʻāpana o kāu ʻōnaehana nerve waena.

He mau nīnau liʻiliʻi hou aʻe...

He ʻano maʻi like anei ka maʻi Shaklo-Marie-Tooth me ka Multiple Sclerosis (MS)?

ʻAʻole. ʻO ka sclerosis lehulehu (MS) kahi kūlana kahi e pehu ai ka ʻūpā myelin a puni nā neurons i loko o ka lolo a me ke kaula spinal. Loaʻa i kekahi mau ʻano CMT nā hōʻailona like, akā ma waho aʻe o kēlā, he mau kūlana ʻokoʻa loa nā mea ʻelua.

He maʻi autoimmune anei ʻo CMT?

ʻAʻole, ʻaʻole he maʻi autoimmune ʻo CMT. Eia nō naʻe, ʻo kekahi mau mutations i loko o ka gene PMP22, ka mea e hoʻoulu pinepine ai i ka CMT, hiki ke hoʻonui i ka pilikia o ka hoʻomohala ʻana i kekahi mau maʻi autoimmune.

Ke hoʻopilikia nei ka maʻi CMT i ka lolo?

Ma keʻano laulā, ʻaʻole pili pololei ka CMT i ka lolo . Hoʻopilikia nui ka CMT i nā neurons lōʻihi a me nā olonā nerve. Loaʻa kēia mau mea i loko o ke kaula spinal a me nā aʻalolo peripheral, ʻaʻole i loko o ka lolo. Hiki i kekahi mau ʻano o CMT ke hana i nā loli liʻiliʻi i ke ʻano o ka lolo, akā ʻaʻole i ʻike nā loea he hopena koʻikoʻi a hopohopo kēia i ka hana o ka lolo.

Nā mea nui e hoʻomanaʻo mai nā mea a mākou i kūkākūkā ai (Leka Lawe-Home)

ʻO ka maʻi Chaucer-Marie-Tooth (CMT) he hui o nā maʻi e hoʻopilikia i kāu ʻōnaehana nerve peripheral, ka pūnaewele o nā aʻalolo e hoʻopili ai i kou lolo a me ke kaula spinal. Hoʻopilikia nui ke ʻano i kou hiki ke kāohi i ka neʻe ʻana o nā ʻiʻo a me ke ʻano o kou manaʻo a me kou ʻike ʻana i ke ao a puni ʻoe. Pono ka nui o ka poʻe me kēia ʻano i nā mea kōkua a i ʻole nā ​​​​​​mea hana. Pono kekahi i ke ʻoki kino a i ʻole nā ​​​​​​mea e like me ka hoʻōla kino a i ʻole ka hoʻōla hana.

Eia nō naʻe, ʻaʻole maʻamau ka CMT he maʻi weliweli a hoʻoweliweli paha i ke ola. ʻO ka hapa nui o ka poʻe me ia e ola nei i kahi ola maʻamau, a ke ola nei i nā ola hauʻoli a hoʻokō. ʻO ka mea nui e hoʻomanaʻo ʻaʻole ʻoe hoʻokahi a hiki iā ʻoe ke loaʻa ke kōkua e ola kūleʻa me kēia maʻi. Inā he mau nīnau a hopohopo paha kāu e pili ana i kēia, e kamaʻilio me ke kauka.


ʻO Shako-Marie-Tooth, CMT, Nā maʻi Neurological, Nā maʻi Genetic, Nāwaliwali o nā ʻiʻo, Peripheral neuropathy, Neurons

⚠️ Important: The medical articles and information on Nirogi Lanka are for general awareness only, and are by no means a substitute for professional medical advice, diagnosis, or treatment. For any medical problem you have, consult a qualified physician immediately.

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He aha ka maʻi Charcot-Marie-Tooth (CMT)? E kamaʻilio maʻalahi kākou e pili ana!

He aha ka maʻi Charcot-Marie-Tooth (CMT)? E kamaʻilio maʻalahi kākou e pili ana!

Ke manaʻo nei ʻoe i kekahi manawa ua mae iki kou mau lālā, a ua nāwaliwali iki paha kou mau ʻiʻo? Malia paha ua hihia kou mau wāwae i kou hele ʻana, a i ʻole ke manaʻo nei ʻoe he loli iki ke ʻano o kou mau wāwae? ʻO kekahi o nā kumu o kēia mau mea ʻo ia ka maʻi Charcot-Marie-Tooth (CMT) , a mākou e kamaʻilio nei i kēia lā. He mea ʻē paha kēia inoa, akā he mea nui loa ia e ʻike e pili ana i ia mea.

No laila, he aha kēia Shako-Marie-Tooth (CMT)?

I ka ʻōlelo maʻalahi, ʻo CMT kahi maʻi e hoʻopilikia ai i nā aʻalolo e kāohi ana i nā ʻiʻo o ko mākou kino. Hoʻokumu nui ʻia ia e kahi hoʻololi genetic. ʻO ia hoʻi, hiki iā ʻoe ke hoʻoilina i kēia gene mai kou makuahine, kou makuakāne, a i ʻole nā ​​​​mea ʻelua.

ʻO CMT kekahi o nā neuropathy peripheral genetic maʻamau. ʻO "nā aʻalolo peripheral" e pili ana i nā aʻalolo āpau e puka mai ana mai ko mākou lolo a me ke kaula spinal (ʻo ia hoʻi, ka ʻōnaehana nerve waena). Ua like kēia mau aʻalolo me nā alanui e alakaʻi ana mai nā kūlanakauhale nui o ko mākou ʻāina a i nā wahi mamao. ʻO kēia mau aʻalolo ka mea e lawe i nā manaʻo i ko mākou mau lālā, nā manamana lima, a me nā ʻiʻo.

ʻO wai ka mea i hoʻopilikia nui ʻia e kēia maʻi?

Hiki i kēia maʻi i kapa ʻia ʻo CMT ke hoʻopilikia i nā kānaka o kēlā me kēia lāhui a i ʻole ka lāhui. Hoʻopilikia like ia i nā kāne a me nā wahine. Eia nō naʻe, ua manaʻo ʻia he maʻi laha ʻole ia ma ka honua holoʻokoʻa. Hōʻike ka noiʻi ua kokoke i hoʻokahi miliona mau kānaka ma ka honua holoʻokoʻa e ʻeha nei i kēia maʻi.

Pehea ka hopena o CMT i ko mākou kino?

No ka hoʻomaopopo ʻana i kēia, pono mua mākou e ʻike iki e pili ana i kā mākou mau hunaola nerve, a i ʻole neurons . Ua like nā neurons me nā ʻelele liʻiliʻi e lawe ana i ka ʻike a puni ko mākou kino.

He mea hou aʻe e pili ana i nā neurons

He nui nā ʻāpana nui o kēlā me kēia neuron:

  • Kino kelepona: Ua like kēia me ke kikowaena mana nui o ka neuron.
  • ʻAxon: ʻO kēia ka ʻāpana lōʻihi e like me ka lima e puka ana mai ke kino o ke kelepona. E noʻonoʻo e like me ka uea uila. ʻO kēia kahi e hele ai nā hōʻailona uila. Ma ka hopena o ka axon he mau ʻano liʻiliʻi e like me nā manamana lima i kapa ʻia ʻo synapses . Hoʻololi kēia mau synapses i nā hōʻailona uila i nā hōʻailona kemika a hoʻouna i ka ʻike i nā neurons kokoke ʻē aʻe.
  • Nā Dendrites: He mau ʻano liʻiliʻi kēia, e like me nā lālā e puka mai ana mai ke kino o ke kelepona. Ua kapa ʻia lākou pēlā no ka mea ua like lākou me nā lālā o kahi lāʻau. Loaʻa i kēia mau dendrites nā hōʻailona kemika mai nā neurons ʻē aʻe.
  • Myelin: ʻO kēia ka ʻūpā momona pale e hoʻopuni ana i nā axons o ka hapa nui o nā neurons. Ua like ia me ka uhi plastik a puni kahi uea uila. ʻAe kēia ʻūpā myelin i nā hōʻailona e hele wikiwiki ma ke axon.

I kēia manawa, i ka maʻi CMT, ua hōʻino ʻia kēia mau neurons ma nā ʻano nui ʻelua.

1. Ka nalowale o ka Myelin:Hiki i ka CMT ke hōʻino i kēia ʻupena myelin i kekahi manawa. A i ʻole ʻaʻole paha e hana pono ʻia ka myelin ma kahi mua. Eia nō naʻe, hoʻolohi kēia i ka wikiwiki o ka hele ʻana o nā hōʻailona aʻalolo. Ua like ia me kahi uea me kahi uhi plastik haki e kahe ana ke au.

2. Nā pilikia axon: Ke hoʻomaka ka emi ʻana a nāwaliwali paha o nā axon ma muli o CMT, e emi ana ka ikaika o nā hōʻailona e hele ana ma o kēlā neuron.

I kekahi mau ʻano CMT, ua emi iki ka wikiwiki o nā hōʻailona aʻalolo, akā ua lawa kēlā e hōʻike i nā hōʻailona. Akā, paʻakikī ke ʻōlelo maopopo inā paha ka pilikia me ka myelin a i ʻole ka axon. Ua kapa ʻia kēia mau ʻano e nā loea he "waena".

ʻAʻole like ka lōʻihi a i ʻole ka nui o nā neurons āpau i loko o ko kākou kino. ʻO nā neurons lōʻihi loa e holo ana ma ko kākou kaula kuamoʻo a hiki i ko kākou mau wāwae a me nā wāwae, ʻo ia nā mea i hoʻopilikia mua ʻia ma CMT . Hiki ke hoʻopilikia ʻia nā lima a me nā lima, akā ʻaʻole kēia e hana pinepine ʻia i ka wā mua o ka maʻi.

He aha nā hōʻailona o ka maʻi CMT?

Hoʻomaka pinepine nā hōʻailona o CMT i ka wā ʻōpio, ma kahi o ka makahiki he ʻumi a ʻumikūmālua paha . Eia nō naʻe, hiki iā lākou ke hoʻomaka ma mua, i ka wā kamaliʻi, a i ʻole i ka makahiki waena. ʻIke mālie ʻia nā hōʻailona, ​​e piʻi mālie ana i ka hala ʻana o ka manawa.

ʻElua ʻano nui o nā hōʻailona ma CMT, ma muli o nā hōʻailona aʻalolo i hoʻopilikia ʻia. Ua kapa ʻia kēia mau hōʻailona he motor a me he sensory .

  • Nā hōʻailona mīkini: ʻO kēia nā hōʻailona e hele mai ko mākou lolo a i ko mākou mau ʻiʻo. Ke haʻi aku nei kēia mau hōʻailona i ko mākou mau ʻiʻo e "neʻe i ʻaneʻi a i ʻaneʻi." No laila, i ka wā e pilikia ai ka hoʻoili ʻana o kēia mau hōʻailona mīkini, ʻaʻole hiki iā mākou ke hoʻomalu pono i ko mākou mau ʻiʻo. ʻOi loa aku hoʻi i ko mākou mau lālā.
  • Ka nāwaliwali o nā ʻiʻo.
  • Malia paha nā kūlana e like me ka maʻi lolo .
  • ʻO ka atrophy o nā uaua ka emi ʻana o nā ʻiʻo uaua .
  • Ua emi a nalowale paha nā reflexes.
  • ʻO nā kīnā o ka manamana wāwae, no ka laʻana, kahi kūlana i kapa ʻia ʻo nā hammertoes .
  • Hāʻule ka wāwae , ʻo ia hoʻi ka hiki ʻole ke hāpai i ke kapuwaʻi o ka wāwae a hāʻule i lalo, a i ʻole ke piʻo o ka wāwae e piʻi ana i luna loa.
  • Nā hele pinepine a me nā hāʻule ʻana ma muli o nā loli i ke ʻano o ka hele wāwae ( nā maʻi gait ).
  • Nā ʻeha pinepine o ke kuʻekuʻe wāwae .
  • Paʻakikī ka hanu ʻana (ʻike pinepine ʻia kēia i nā hihia koʻikoʻi).
  • Nā hōʻailona sensory: ʻO kēia nā hōʻailona e hele i ka lolo mai nā ʻāpana like ʻole o ko mākou kino. Ke haʻi aku nei kēia mau hōʻailona i ka lolo, "Penei ke ʻano o kēia." No laila, i ka wā e loaʻa ai kahi pilikia me kēia mau hōʻailona sensory, ʻike mākou i nā loli i nā manaʻo ma ko mākou mau wāwae haʻahaʻa, nā wāwae, a me nā lima.
  • Ka mae a me ke ʻāʻī ʻana paha .
  • Ka nalowale ʻana o ka manaʻo o ka mehana a i ʻole ka ʻeha ma nā wāwae lalo, nā kapuaʻi wāwae, a i ʻole nā ​​poho lima.
  • He manaʻo e like me kekahi mea e kolo ana ma kuʻu mau wāwae.
  • ʻEha mau loa .
  • Ka emi ʻana a i ʻole ka nalowale ʻana o ka ʻike ma nā ʻano ʻē aʻe, ʻoiai ka ʻike a me ka lohe (ʻaʻole maʻamau kēia mau mea, ʻike wale ʻia ma kekahi mau ʻano o CMT).

He aha ke kumu o CMT?

Loaʻa i kēlā me kēia ʻaʻalolo i loko o ko kākou kino kahi mea i kapa ʻia ʻo DNA . Ua like kēia DNA me kahi puke kuhikuhi. ʻO kēia DNA ka mea e hāʻawi i nā ʻōlelo kuhikuhi i nā ʻaʻalolo e hana pono i kā lākou hana. Ua like ka hoʻololi ʻana o ka genetic me kahi hewa i loko o kahi leka i loko o kēia puke kuhikuhi DNA. Hahai pololei kā mākou mau ʻaʻalolo i nā kuhikuhi i loko o kēia DNA. No laila, ma muli o ia mau hoʻololi ʻana, hoʻomaka nā ʻaʻalolo e hana hewa. Pēlā e ulu ai ʻo CMT.

Hiki ke hoʻokumu ʻia ʻo CMT e nā mutations i loko o hoʻokahi gene a i ʻole e nā mutations i loko o nā genes he nui. Ua ʻike nā kānaka noiʻi i nā ʻumi o nā mutations genetic e hoʻoulu ai i nā ʻano CMT like ʻole.

ʻElua mau ala nui e hiki ai iā ʻoe ke loaʻa kahi mutation DNA:

  • Hoʻoilina: Loaʻa iā ʻoe kēia mau hoʻololi DNA mai kou makuahine, kou makuakāne, a i ʻole nā ​​​​mea ʻelua.
  • Kū koke: Hana ʻia kēia mau hoʻololi ʻana i kou wā e ulu ana ma ke ʻano he fetus i loko o ka ʻōpū o kou makuahine. I kekahi manawa ua kapa ʻia kēia mau hoʻololi "de novo", ʻo ia hoʻi "hou."

Aia kekahi mau ʻano like ʻole o CMT?

ʻAe, ʻehiku mau ʻano nui o CMT. Eia nō naʻe, ʻo ke ʻano CMT 1 (CMT1) a me ke ʻano CMT 2 (CMT2) nā mea maʻamau. ʻOi aku ka kakaikahi o nā ʻano ʻē aʻe.

  • ʻAno CMT 1 (CMT1): Hoʻopilikia kēia ʻano i ka myelin, no laila hele mālie nā hōʻailona. ʻIke pinepine ʻia nā hōʻailona ma waena o nā makahiki 10 a me 40. Eia nō naʻe, hiki i kekahi poʻe ke noho me ka ʻole o nā hōʻailona no nā makahiki he ʻumi. ʻO kēia ke ʻano maʻamau o CMT. ʻOi aku ka pinepine o ia ma mua o CMT2.
  • CMT2: Hoʻopilikia kēia ʻano i nā axons. He nāwaliwali nā hōʻailona aʻalolo a hiki ke hele mālie iki. Ma kahi o ka hapakolu o nā maʻi CMT e hāʻule i kēia ʻano.

Ma waho aʻe o kēia, aia kekahi mau ʻano ʻē aʻe o CMT:

  • ʻO CMT3 (i kapa ʻia hoʻi ʻo ka maʻi ʻo Dejerine-Sottas ).
  • CMT X-linked (CMTX).
  • CMT Waena Dominant (CMTDI).
  • ʻO ka CMT waena recessive (CMTRI).

He maʻi lele anei kēia?

ʻAʻole, ʻaʻole he maʻi lele ʻo CMT. ʻAʻole hiki ke laha mai kekahi kanaka a i kekahi kanaka.

Pehea e ʻike pololei ʻia ai ka maʻi CMT?

No ka ʻike pono ʻana i ke ʻano o ka CMT āu a me kona koʻikoʻi, pono ke kauka e hoʻohana i kekahi mau ʻano hana, me ka hoʻokolokolo kino a me ka neurological ., nā hoʻokolohua hoʻokolohua, nā hoʻokolohua kiʻi, a me nā hoʻokolohua diagnostics ʻē aʻe. E nīnau pū ke kauka e pili ana i kou mōʻaukala olakino ʻohana, kou mau hōʻailona, ​​a me ka ʻike e pili ana i ke ʻano o ka nohona.

He aha nā ʻano hoʻokolohua i hana ʻia no kēia?

Inā manaʻo ʻoe he CMT kou, ʻoi aku ka nui o kēia mau hoʻokolohua iā ʻoe:

  • ʻO ka Electromyogram (EMG) , ʻo ia hoʻi nā hoʻāʻo hoʻoili aʻalolo , e ana i ka wikiwiki a me ka ikaika o kou mau aʻalolo e alakaʻi i nā hōʻailona.
  • Ka hoʻāʻo ʻana i ka genetic: Hiki i kēia ke ʻike inā he mau hoʻololi genetic e hoʻoulu ai iā CMT.
  • ʻO ke kī ʻana o ka iwi kuamoʻo / lumbar puncture: Hoʻohana ʻia kēia e nānā i ka wai cerebrospinal. ʻAʻole hana ʻia kēia no nā mea āpau.
  • Kiʻi Hoʻohui Makeneka (MRI) .
  • Hoʻokolokolo ʻana o ka ultrasound .
  • Nā hoʻokolohua hiki ke hoʻāla ʻia: Kōkua kēia i ka ʻike inā he mau ʻano like ʻole o CMT, ʻoiai nā mea e pili ana i ka lohe a me ka ʻike.
  • ʻO ka biopsy aʻalolo: ʻAʻole hana pinepine ʻia kēia. Pili ia i ka lawe ʻana i kahi ʻāpana liʻiliʻi mai kahi aʻalolo a nānā iā ia.

He aha nā lāʻau lapaʻau no CMT? Hiki ke ho'ōla loa ʻia?

I ka ʻoiaʻiʻo, ʻaʻohe ala e hoʻōla loa ai i ka CMT a i ʻole e mālama pololei i ka maʻi . Eia nō naʻe, hiki ke mālama ʻia nā hōʻailona a me nā hopena i hoʻokumu ʻia e kēia maʻi.

He aha ke ʻano o ka lāʻau lapaʻau/lāʻau lapaʻau e hoʻohana ʻia nei?

ʻO nā lāʻau lapaʻau i hoʻohana pinepine ʻia no CMT:

  • Hoʻoikaika kino a me ka hoʻoikaika hana: Hiki i kēia ke kōkua iā ʻoe e hoʻoikaika i kou mau ʻiʻo, hoʻomaikaʻi i kou kaulike, a maʻalahi i nā hana o kēlā me kēia lā.
  • Nā mea kōkua neʻe e like me nā pale wāwae , nā mea hele wāwae , a me nā noho huila .
  • Nā kāmaʻa kūikawā e hoʻololi i nā loli i ke ʻano o nā wāwae.
  • ʻO ke ʻoki kino e hoʻoponopono i nā loli i ke ʻano o nā lima, nā wāwae, nā pūhaka, a i ʻole ke kua.
  • Nā lāʻau lapaʻau no kekahi mau hōʻailona, ​​ʻoi aku ka ʻeha mau.

Aia kekahi mau lāʻau lapaʻau ʻē aʻe i loaʻa no CMT, akā ʻokoʻa lākou ma muli o ke ʻano kikoʻī o ka maʻi. Hiki i kāu kauka ke aʻo iā ʻoe i nā lāʻau lapaʻau e kōkua nui loa iā ʻoe, no ka mea hiki iā lākou ke hoʻopilikino i ka ʻike i kou kūlana a me nā pono kikoʻī.

E haʻi aku nō hoʻi kāu kauka iā ʻoe e pili ana i nā hopena ʻaoʻao a me nā pilikia e hiki mai ana me nā ʻano lāʻau like ʻole, a me ka lōʻihi o ka manawa e hoʻōla ai a hoʻi i ke ola maʻamau.

He aha kāu e manaʻo ai i ka wā e noho pū ai me CMT? He aha ka mea e hiki mai ana?

Ma keʻano laulā, ʻaʻole he kūlana weliweli loa ʻo CMT.Akā, hiki i kekahi o nā ʻano ʻoi aku ka koʻikoʻi o ka maʻi ke hoʻoweliweli i ke ola. He nui ka poʻe me CMT e pilikia ana i ka hele ʻana, ka neʻe ʻana, a i ʻole ka ʻike ʻana i kekahi mau manaʻo. Akā, ʻaʻole pinepine kēia mau mea e hoʻopōkole i ko lākou ola. Me nā mea kōkua kūikawā, ʻoiai nā pale wāwae a me nā kuʻekuʻe wāwae a i ʻole nā ​​kāmaʻa, hiki i ka poʻe he nui me CMT ke ola i kahi ola maʻamau a alakaʻi i nā ola hauʻoli a hoʻokō.

E hoʻomanaʻo, hiki iā ʻoe ke ola i kahi ola maikaʻi me CMT. ʻO ka mea wale nō āu e pono ai he ʻōlelo aʻoaʻo lapaʻau kūpono a me ke kākoʻo.

I nā ʻano koʻikoʻi o ka maʻi, ʻo ka mea weliweli loa ka nāwaliwali o nā ʻiʻo e kāohi ana i ka hanu ʻana a me ke ale ʻana. Hiki i kēia ke alakaʻi i ka hāʻule ʻana o ka hanu , ka maʻi pneumonia, a me nā kūlana hoʻoweliweli ola. ʻOi aku ka nui o ka hiki ʻana mai o kēia mau kūlana koʻikoʻi inā hoʻomaka nā hōʻailona CMT i ka wā mua o ke ola, ʻoi aku hoʻi i ka wā kamaliʻi.

Pehea ka lōʻihi o ka manawa e mau ai ʻo CMT?

He maʻi mau loa ʻo CMT no ke ola holoʻokoʻa . Hānau ʻia ʻoe me ia, akā ʻaʻole ka hapa nui o ka poʻe e loaʻa nā hōʻailona a hiki i ko lākou wā makua. ʻAʻohe lāʻau lapaʻau i kēia manawa, a ʻaʻole ia e hoʻomaikaʻi iā ia iho.

Aia kekahi ala e pale aku ai i ka ulu ʻana o CMT?

ʻO ka maʻi Shaklo-Marie-Tooth kahi mea āu e hoʻoilina ai a i ʻole kahi mea i hiki koke ʻole ʻia. No laila, ʻaʻohe ala e pale aku ai a hōʻemi paha i ka pilikia o ka loaʻa ʻana .

ʻOiai ʻaʻole hiki ke pale ʻia ka CMT, hiki i ka hoʻāʻo ʻana i ka genetic a me ke aʻo ʻana ke kōkua iā ʻoe e ʻike inā pilikia kāu mau keiki i ka loaʻa ʻana. Hiki i kāu kauka a i ʻole ke kākāʻōlelo genetic ke haʻi hou aku iā ʻoe e pili ana i kēia.

He aha ka mea e hana ai inā hāpai kekahi me CMT?

Hiki i ka hapa nui o ka poʻe me CMT ke loaʻa nā keiki. Eia nō naʻe, hiki ke loaʻa kekahi mau pilikia a ʻoi aku paha ka nui o ka hiki ke loaʻa. Pono paha ka nui o nā wahine hāpai me CMT i ka mālama hou aku i ka wā hāpai a hānau keiki paha. Loaʻa iā lākou kahi pilikia kiʻekiʻe iki o ke kahe ʻana o ke koko ma hope o ka hānau ʻana.

E haʻi aku kāu kauka iā ʻoe i nā mea hou aʻe e pili ana i kēia iā ʻoe a me nā mea hiki iā ʻoe ke hana. Hiki iā lākou ke kuhikuhi iā ʻoe i nā loea, ʻoiai nā kauka lapaʻau makuahine-fetus e loea ana i nā hāpai paʻakikī.

Pehea e hiki ai iaʻu ke mālama iaʻu iho a hoʻokele i kaʻu mau hōʻailona?

Inā loaʻa iā ʻoe ʻo CMT, ʻo kāu kauka ke kumu maikaʻi loa o ka ʻike e pili ana i nā mea hiki iā ʻoe ke hana a me nā mea e pono ai ke hana e mālama iā ʻoe iho a hoʻokele i kēia kūlana. Hiki iā lākou ke nānā i ka holomua o kou kūlana a hāʻawi i nā ʻōlelo aʻoaʻo a i ʻole nā ​​​​​​hoʻolālā e kōkua iā ʻoe.

ʻO ka maʻamau, pono ʻoe e hana i kēia mau mea:

  • E ʻike i kāu kauka e like me ka mea i ʻōlelo ʻia. He mea nui loa kēia no ka mea hiki i kāu kauka ke ʻike i ke ʻano o ka holomua ʻana o kou kūlana a pehea kona hopena iā ʻoe. Hiki paha iā lākou ke hoʻololi i kāu hoʻolālā lapaʻau a hāʻawi i nā manaʻo e pili ana i nā mea e kōkua paha iā ʻoe.
  • E hahai pono i kāu hoʻolālā lapaʻau. ʻO ia hoʻi ka lawe ʻana i kāu mau lāʻau lapaʻau a me ka hoʻohana ʻana i kāu mau lako lapaʻau e like me ke kauoha a kāu kauka. He mea nui loa kēia mau mea, no ka mea hiki iā lākou ke kōkua iā ʻoe e hōʻoluʻolu i kāu mau hōʻailona a i ʻole e hoʻolohi i ka wikiwiki o ka ʻino ʻana o kekahi mau hōʻailona.
  • E pale i nā lāʻau lapaʻau a i ʻole nā ​​mea e hōʻino ai i ka ʻōnaehana nerve (nā mea neurotoxic). ʻO kēia nā mea he nui ka pilikia o ka hōʻino ʻana i kāu ʻōnaehana nerve. E haʻi aku paha kāu kauka iā ʻoe e kaupalena a hoʻōki paha i ka inu ʻana i ka waiʻona. No ka mea, ʻo ka inu nui ʻana i ka waiʻona hiki ke hōʻino i ka ʻōnaehana nerve.

Āhea ʻoe e ʻike ai i ke kauka? Āhea ka manawa e pono ai ka mālama ʻana i ka pilikia?

E hoʻonohonoho kāu kauka i nā kipa hahai maʻamau e nānā i kou kūlana a me nā hōʻailona. Eia kekahi, inā ʻike ʻoe i kekahi mau loli i kāu mau hōʻailona, ​​​​ʻoiai inā hoʻopilikia lākou i kāu mau hana maʻamau, pono ʻoe e ʻike i kāu kauka.

Āhea ʻoe e hele ai i ka haukapila (ETU) no ka mālama ʻana i ka pilikia?

ʻAʻole pono ka hapa nui o ka poʻe me CMT i ka mālama ʻana i ka pilikia, ke ʻole lākou e pilikia i ka hoʻomalu ʻana i ko lākou mau ʻiʻo wāwae a hāʻule. Inā hāʻule ʻoe, pono ʻoe e ʻimi i ke kōkua lapaʻau inā he pilikia o ka hōʻeha ʻana i kou poʻo , ʻāʻī, a i ʻole ke kua . ʻO kēia no ka mea hiki i ka CMT ke hoʻoulu i nā pilikia koʻikoʻi inā ua hōʻino ʻia kekahi ʻāpana o kāu ʻōnaehana nerve waena.

He mau nīnau liʻiliʻi hou aʻe...

He ʻano maʻi like anei ka maʻi Shaklo-Marie-Tooth me ka Multiple Sclerosis (MS)?

ʻAʻole. ʻO ka sclerosis lehulehu (MS) kahi kūlana kahi e pehu ai ka ʻūpā myelin a puni nā neurons i loko o ka lolo a me ke kaula spinal. Loaʻa i kekahi mau ʻano CMT nā hōʻailona like, akā ma waho aʻe o kēlā, he mau kūlana ʻokoʻa loa nā mea ʻelua.

He maʻi autoimmune anei ʻo CMT?

ʻAʻole, ʻaʻole he maʻi autoimmune ʻo CMT. Eia nō naʻe, ʻo kekahi mau mutations i loko o ka gene PMP22, ka mea e hoʻoulu pinepine ai i ka CMT, hiki ke hoʻonui i ka pilikia o ka hoʻomohala ʻana i kekahi mau maʻi autoimmune.

Ke hoʻopilikia nei ka maʻi CMT i ka lolo?

Ma keʻano laulā, ʻaʻole pili pololei ka CMT i ka lolo . Hoʻopilikia nui ka CMT i nā neurons lōʻihi a me nā olonā nerve. Loaʻa kēia mau mea i loko o ke kaula spinal a me nā aʻalolo peripheral, ʻaʻole i loko o ka lolo. Hiki i kekahi mau ʻano o CMT ke hana i nā loli liʻiliʻi i ke ʻano o ka lolo, akā ʻaʻole i ʻike nā loea he hopena koʻikoʻi a hopohopo kēia i ka hana o ka lolo.

Nā mea nui e hoʻomanaʻo mai nā mea a mākou i kūkākūkā ai (Leka Lawe-Home)

ʻO ka maʻi Chaucer-Marie-Tooth (CMT) he hui o nā maʻi e hoʻopilikia i kāu ʻōnaehana nerve peripheral, ka pūnaewele o nā aʻalolo e hoʻopili ai i kou lolo a me ke kaula spinal. Hoʻopilikia nui ke ʻano i kou hiki ke kāohi i ka neʻe ʻana o nā ʻiʻo a me ke ʻano o kou manaʻo a me kou ʻike ʻana i ke ao a puni ʻoe. Pono ka nui o ka poʻe me kēia ʻano i nā mea kōkua a i ʻole nā ​​​​​​mea hana. Pono kekahi i ke ʻoki kino a i ʻole nā ​​​​​​mea e like me ka hoʻōla kino a i ʻole ka hoʻōla hana.

Eia nō naʻe, ʻaʻole maʻamau ka CMT he maʻi weliweli a hoʻoweliweli paha i ke ola. ʻO ka hapa nui o ka poʻe me ia e ola nei i kahi ola maʻamau, a ke ola nei i nā ola hauʻoli a hoʻokō. ʻO ka mea nui e hoʻomanaʻo ʻaʻole ʻoe hoʻokahi a hiki iā ʻoe ke loaʻa ke kōkua e ola kūleʻa me kēia maʻi. Inā he mau nīnau a hopohopo paha kāu e pili ana i kēia, e kamaʻilio me ke kauka.


ʻO Shako-Marie-Tooth, CMT, Nā maʻi Neurological, Nā maʻi Genetic, Nāwaliwali o nā ʻiʻo, Peripheral neuropathy, Neurons

⚠️ Important: The medical articles and information on Nirogi Lanka are for general awareness only, and are by no means a substitute for professional medical advice, diagnosis, or treatment. For any medical problem you have, consult a qualified physician immediately.

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