Ua manaʻo paha ʻoe ua hele ʻoe ma waho o ke kaohi, ua mae kou mau lālā, a ua paʻakikī paha kāu mau ʻōlelo i kāu ʻōlelo ʻana? ʻOiai ke ʻano o kēia mau mea he mau mea maʻamau, hiki iā lākou ke lilo i mau hōʻailona o kahi maʻi. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi i paʻakikī iki, akā he mea nui loa e ʻike. ʻO ia ka maʻi Machado-Joseph (MJD) .
He aha ka maʻi Machado-Joseph (MJD)?
I ka ʻōlelo maʻalahi, ʻo ka maʻi Machado-Joseph (MJD) kahi maʻi hoʻoilina e hoʻopilikia ai i kā mākou ʻōnaehana nerve . Hāʻule ia i loko o kahi māhele i kapa ʻia ʻo ataxia . He huaʻōlelo hou paha ʻo "Ataxia" iā ʻoe. ʻO ia hoʻi, e emi mālie ana ka hiki o ko mākou kino ke kāohi i nā ʻiʻo . E noʻonoʻo e like me ka nalowale ʻana o ka hoʻonohonoho ʻana. Hiki i kēia ke lilo i ke kaulike a nalowale ka mana o ko mākou mau lālā.
I loko o ka MJD, ʻoi aku hoʻi, aia kahi nalowale mālie o ka hoʻonohonoho ʻana i ko mākou mau lima a me nā wāwae. ʻO kēia ke kumu o ka hele ʻana o nā mea maʻi ma ke ʻano ʻokoʻa a kūlou . Hiki i kekahi poʻe ke paʻakikī i ka ale ʻana a me ka ʻōlelo ʻana.
ʻO kēia maʻi MJD kekahi inoa ʻē aʻe, ʻo ia hoʻi ʻo Spinocerebellar Ataxia type 3. ʻO ka ʻoiaʻiʻo, ʻo kēia MJD ke ʻano maʻamau o kēia hui o nā maʻi i kapa ʻia ʻo spinocerebellar ataxia.
Aia kekahi mau ʻano like ʻole o ka maʻi Machado-Joseph (MJD)?
ʻAe, hiki ke hoʻokaʻawale ʻia ka maʻi Machado-Joseph i ʻekolu ʻano nui. Hoʻokumu ʻia kēia mau hoʻokaʻawale ʻana ma muli o ka makahiki o ka hoʻomaka ʻana a me ke koʻikoʻi o nā hōʻailona.
- ʻAno I (MJD-I): Hoʻomaka pinepine kēia ʻano ma waena o nā makahiki 10 a me 30. Hiki i nā hōʻailona ke koʻikoʻi loa a holomua koke .
- ʻAno II (MJD-II): Hoʻomaka kēia ma waena o nā makahiki 20 a me 50. Hoʻonui mālie nā hōʻailona i ka hala ʻana o ka manawa.
- ʻAno III (MJD-III): Hoʻomaka kēia ʻano ma waena o nā makahiki 40 a me 70. Hoʻonui mālie nā hōʻailona i ka hala ʻana o ka manawa .
I kēia manawa ua maopopo paha iā ʻoe he ʻokoʻa ke ʻano o ka hoʻomaka ʻana o nā hōʻailona a me ko lākou ʻano no kēlā me kēia ʻano ʻekolu.
He aha nā hōʻailona o ka maʻi Machado-Joseph (MJD)?
ʻO nā hōʻailona āu e ʻike ai e pili ana i ke ʻano o MJD āu.
Nā hōʻailona ʻAno I (MJD-I)
He koʻikoʻi nā hōʻailona o kēia ʻano a ulu koke. Hiki iā lākou ke komo pū me:
- ʻO nā ʻūmiʻi ʻiʻo i kāohi ʻole ʻia ma nā lima a me nā wāwae (dystonia) .
- ʻOʻoleʻa o nā ʻiʻo (rigidity) .
- Loaʻa ka nui o ke kani o nā ʻiʻo (hypertonia) .
- Nā neʻe kino ʻano ʻē a kāohi ʻole ʻia (ataxia) .
- He hele kūlou, he hele wāwae ʻole.
- ʻŌlelo pahee, ʻōlelo pahee.
- Ka paʻakikī i ka ale ʻana i ka meaʻai (dysphagia) .
- Nā maka e ʻō aku ana (proptosis) .
Nā hōʻailona ʻano II (MJD-II)
ʻOi aku ka ʻino o nā hōʻailona o kēia ʻano i ka hala ʻana o ka manawa. Hiki iā lākou ke komo pū me:
- ʻO ka ʻūmiʻi mau ʻana o nā ʻiʻo i kāohi ʻole ʻia (spasticity) .
- Paʻakikī i ka hele wāwae ma muli o ka ʻūmiʻi ʻana o nā ʻiʻo (spastic gait).
- Ka nāwaliwali o nā reflexes.
- Ke paʻakikī i ka hoʻonohonoho ʻana i nā neʻe ʻana o nā lima a me nā wāwae (ataxia) .
Nā hōʻailona ʻano III (MJD-III)
ʻO nā hōʻailona o kēia ʻano e lilo i mea ʻino aʻe i ka hala ʻana o ka manawa. Hiki iā lākou ke komo pū me:
- ʻŪmiʻi ʻiʻo.
- ʻO ka maneʻo, ke ʻāʻī, ka ʻeha, a me ka maneʻo ʻana i nā lima, nā wāwae, nā wāwae, a me nā wāwae (neuropathy) .
- Ka nalo ʻana o nā ʻiʻo (ka nalowale ʻana o nā ʻiʻo - atrophy ).
- Ka hele wāwae paʻa ʻole.
Nā hōʻailona maʻamau ʻē aʻe
Ma waho aʻe o kēia mau ʻano, hiki i nā maʻi MJD ke loaʻa i kekahi mau hōʻailona ʻē aʻe:
- ʻIke pālua (diplopia) .
- ʻAʻole hiki ke kāohi i ka neʻe ʻana o nā maka (nystagmus) .
- Haʻalulu ka lima.
- Nā pilikia me ke kaulike a me ka hoʻonohonoho ʻana.
- ʻŪmiʻumi a ʻoni paha ka helehelena.
- Nā maʻi hiamoe.
- ʻEha mau o ke kua haʻahaʻa.
He mea nui: Ke hui pū ʻia kēia mau hōʻailona, e noʻonoʻo paha ʻoe inā he mau hōʻailona ia o kahi maʻi neurological ʻē aʻe, e like me ka sclerosis maha a i ʻole ka maʻi Parkinson . No laila, inā loaʻa iā ʻoe nā hōʻailona hou a inā e ʻoi aku ka ʻino o kahi hōʻailona e kū nei, ʻoiai inā pili lākou i kāu neʻe ʻana a me ka hoʻohana ʻana i kou kino, e ʻike koke i ke kauka.
He aha ke kumu o ka maʻi Machado-Joseph (MJD)?
ʻO ke kumu nui o kēia maʻi he mutation i loko o kā mākou mau genes . Ua like ia me kahi hewa liʻiliʻi i loko o kahi code kamepiula hiki ke hoʻopilikia i ka papahana holoʻokoʻa.
ʻO ke kikoʻī, hana ʻia kēia mutation i loko o kahi gene i kapa ʻia ʻo ATXN3 ma kā mākou chromosome 14. Ma kahi ʻāpana o ka DNA i loko o kēia gene, aia nā trinucleotide repeats i kapa ʻia ʻo "CAG".ʻO kahi mea i ʻōlelo ʻia e hana hou ʻia i nā manawa he nui ma ke ʻano ʻē. ʻO CAG ke kū nei no nā hui kemika ʻekolu ʻo Cytosine-Adenine-Guanine.
I loko o ka DNA o kekahi me ka ʻole o MJD, hana hou ʻia kēia hana hou ʻana o CAG ma waena o 12 a me 43 mau manawa. Eia nō naʻe, i loko o ka DNA o kekahi me MJD, hana hou ʻia kēia hana hou ʻana o CAG ma waena o 56 a me 86 mau manawa. ʻO ka makahiki e hoʻomaka ai ʻoe e hoʻomohala i nā hōʻailona a me ke koʻikoʻi o ka maʻi e pili pono ana i ka helu o nā hana hou ʻana o CAG.
Ua hoʻoilina ʻia ke kūlana ma ke ʻano autosomal dominant . ʻO ke ʻano kēia, hoʻokahi wale nō makua e pono ai i ke keiki e loaʻa ka gene no ka ulu ʻana o ka maʻi. Inā loaʻa iā ʻoe ka MJD, he 50% ka manawa e loaʻa ai i kāu keiki ka maʻi.
ʻO wai ka mea i ʻoi aku ka nui o ka pilikia o ka hoʻomohala ʻana i ka maʻi Machado-Joseph (MJD)?
ʻO ka MJD ka mea maʻamau i nā kānaka o ka lāhui Azorean a i ʻole Pukiki . Ma ka mokupuni ʻo Flores ma Azores, ua hōʻike ʻia he hoʻokahi i loko o 140 mau kānaka i loaʻa i ka maʻi. Eia naʻe, ʻaʻole kēia manaʻo ʻaʻole i hoʻopilikia ʻia nā hui lāhui ʻē aʻe. Hiki iā ia ke hoʻopilikia i nā kānaka o kekahi hui lāhui.
Pehea e ʻike ʻia ai ka maʻi Machado-Joseph (MJD)?
Ke ʻike ʻoe i ke kauka, e nīnau ʻo ia e pili ana i kāu mau hōʻailona a hana i kahi hoʻokolokolo kino. ʻOiai ke holo nei kēia maʻi i loko o nā ʻohana, he mea nui e kamaʻilio e pili ana i kou mōʻaukala ʻohana pili kino. Inā loaʻa i kekahi o kou ʻohana kēia mau hōʻailona, he mea nui hoʻi e nīnau e pili ana i ka wā i hoʻomaka ai ko lākou mau hōʻailona a pehea ka wikiwiki o ko lākou holomua ʻana.
No ka hōʻoia ʻana i ka maʻi, hiki i kāu kauka ke ʻōlelo aku i ka hoʻāʻo genetic no ka maʻi Machado-Joseph . Hiki i kēia hoʻāʻo genetic ke nānā i ka helu o nā hana hou CAG triplet kānalua ma kāu chromosome 14.
Pehea e mālama ʻia ai ka maʻi Machado-Joseph (MJD)?
ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi Machado-Joseph. ʻO ka mālama ʻana no MJD e pili ana i ka hoʻokele ʻana i nā hōʻailona āu e loaʻa nei. Hiki i nā lāʻau lapaʻau ke komo pū me:
- ʻO nā lāʻau lapaʻau e like me Baclofen (Lioresal®) a i ʻole Botulinum toxin (Botox®) e kōkua i ka hōʻemi ʻana i ka dystonia i ʻōlelo ʻia ma luna a me nā spasms muscle.
- Kōkua ka lāʻau lapaʻau ʻo Levodopa i ka hōʻemi ʻana i ka lohi a me ka ʻoʻoleʻa i nā neʻe kino.
Eia kekahi, hiki i ka hoʻōla kino a me nā lako kōkua ke kōkua i nā mea maʻi e hana i nā hana o kēlā me kēia lā a neʻe a puni. No nā pilikia ʻike maka, hiki i nā aniani prism ke kōkua i ka hōʻemi ʻana i ka ʻike pālua a i ʻole ka ʻike pōwehiwehi.
E nīnau i kāu kauka e pili ana i nā hoʻokolohua lapaʻau no kēia maʻi.
He aha ke kūlana o ke ola o kekahi me ka maʻi Machado-Joseph (MJD)?
ʻO ke ola o ka poʻe me MJD e pili ana i ke ʻano o ka maʻi i loaʻa iā lākou. ʻOi aku ka pōkole o ke ola o ka poʻe me ke ʻano I, malia paha ma waena o 30 mau makahiki. Eia nō naʻe, ʻo ka poʻe me ke ʻano II a i ʻole ke ʻano III e ola mau ana i kahi ola maʻamau.
Hiki ke pale ʻia ka maʻi Machado-Joseph (MJD)?
No ka mea, he maʻi hoʻoilina ka MJD, ʻaʻole hiki ke pale ʻia. Inā hopohopo ʻoe e hoʻoilina paha kāu mau keiki i ka maʻi, he mea nui e kamaʻilio me kahi kākāʻōlelo hoʻoilina ma mua o ka hoʻolālā ʻana i ka hāpai ʻana. Aia paha kekahi mau ala e pale aku ai i ka hāʻawi ʻia ʻana o ka MJD i kāu mau keiki ma o ka hoʻāʻo hoʻoilina me In Vitro Fertilization (IVF) .
Āhea wau e ʻike ai i ke kauka?
Inā loaʻa iā ʻoe kekahi mau hōʻailona o ka maʻi Machado-Joseph, e ʻike i ke kauka. Inā loaʻa i kekahi o kou ʻohana ka maʻi, he manaʻo maikaʻi e kamaʻilio me kāu kauka e pili ana i kou pilikia o ka loaʻa ʻana o ka maʻi.
He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?
Inā ua ʻike ʻia ʻoe me MJD, makemake paha ʻoe e nīnau i kāu kauka e like me:
- He aha ke ʻano maʻi i loaʻa iaʻu?
- E ʻoi aku ka ʻino o koʻu mau hōʻailona i ka hala ʻana o ka manawa?
- He aha ke ʻano o ka lāʻau lapaʻau āu e paipai nei?
- E hoʻoilina anei kaʻu mau keiki iā MJD mai iaʻu?
He mea maʻamau ka loaʻa ʻana o ka nui o nā nīnau a me nā manaʻo ke loaʻa iā ʻoe kahi maʻi e like me ka maʻi Machado-Joseph (MJD). E noi i ke kākoʻo mai ka poʻe kokoke iā ʻoe. Eia kekahi, e lilo i mea komo ikaika i kāu lāʻau lapaʻau - e mālama i kāu mau manawa i hoʻopaʻa ʻia, e hahai i nā ʻōlelo a kāu kauka, a e nīnau i nā nīnau. Hiki iā ʻoe ke kamaʻilio me kahi kākāʻōlelo olakino noʻonoʻo e aʻo pehea e kū ai i kēia kūlana. Mai kāohi i kou mau manaʻo. E kamaʻilio me nā hoaaloha, he kākāʻōlelo, a i ʻole kahi hui kākoʻo. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi.
Leka Lawe-Home
ʻO ka maʻi Machado-Joseph (MJD) kahi maʻi hoʻoilina e hoʻopilikia i kā mākou ʻōnaehana nerve. Hiki iā ia ke hoʻopilikia i nā mea e like me ke kaulike a me ka kaohi ʻana i nā ʻiʻo. ʻOkoʻa nā hōʻailona ma muli o ke ʻano o ka maʻi.
ʻOiai ʻaʻohe lāʻau lapaʻau no kēia, aia nā lāʻau lapaʻau e hiki ke kōkua i ka hoʻokele ʻana i nā hōʻailona. Hiki i nā mea e like me ka hoʻōla kino a me nā mea kōkua ke maʻalahi i ke ola. Inā loaʻa iā ʻoe kēia mau hōʻailona, a i ʻole inā loaʻa i kekahi o kou ʻohana kēia maʻi, ʻoi aku ka maikaʻi o ka ʻimi ʻana i ka ʻōlelo aʻoaʻo lapaʻau i ka wā hikiwawe. E hoʻomanaʻo, me ka ʻike kūpono a me ke kākoʻo, hiki iā ʻoe ke kū i kēia maʻi.
ʻO ka maʻi Machado-Joseph, MJD, Spinocerebellar ataxia, ataxia, nā maʻi neurological, nā maʻi genetic, nā maʻi hoʻoilina
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