Maʻi ma ka pae ana o aaiaoe? - Joubert maʻi pale

Me ke kaumaha, me ka naʻe o ka hooulu ana a pau o ka oihana lapaau, noho maʻi hoolaia ana mākou hiki ole. No ka laʻana, Joubert maʻi pale a me na mea he nui, i ka ike pono i ka nani inoa me ke akaka ano, a me keia mea he aaiaoe maʻi o ka cerebellum ka heluna i ke ola a me ka ola o ke kanaka. Ia mea, he ona e inoino pomaikai a me ka maʻi e hiki ke Hāʻule maila lākou? Malia paha ia anei ke hoola ia paha ma ka liʻiliʻi loa, e hōʻike i kekahi kakahiaka nui ke kahua? Anei oe i kekahi mea e pili ana i ka mea pohihihi maʻi pale? E ka ike.

He aha ke ano o ka hoouka

No laila, Joubert maʻi pale. He aha ka mea? Inā kekahi olelo, e ka pilikia. Inā 'oe e haawi aku i ka oi piha pane, ua hiki ke olelo aku i keia maʻi pale he mea pohihihi, mea pōmaikaʻi, ka maʻi ua pu ma hypoplasia a me ka piha kaawale o ka cerebellar vermis mea kuleana i koe a me ka ōhumu. Ke hoomanawanui poorly i hana lolo kumu, a no ia mea, i e naehana hanu ole, i hiki i ka holo ana. People e hai'āno'ē ka neʻe 'ana o na maka a me ka olelo, ua hoʻemi Muscle leo. I kaʻike, a kauka e haawi aku ma hope o lapaʻau loina, a kuhikuhi i ano hiʻona o ka cerebellar vermis hypoplasia, akā, i kona elongation a me ka hanaʻia naʻe o ka mua wāwae. I ole ia, ka mea, ua kapaʻia he symptom o "molar". Hoakaka i kaʻikepili nahae wale nō ma hope o MRI haʻawina o ka lolo. Auwe, Joubert maʻi pale hiki ke hoolilo ma ka'āina hoʻoili.

na nā'ōewe

I ka lā, he iwakalua-hōʻike ''ōewe mutations e alakai ai i ka notorious maʻi pale. A pau e pili pū kāna hana he mea pohihihi keia autosomal recessive kāna hana wehewehe aku ma ka hooulu ana me ka typical a me ka kiʻiona malformations o ka cerebellum a me ka lolo anei i. Ke xi i mai la pathologies Joubert maʻi pale pu ma ka hypotension, hoolohi ulu, apnea a me ka maka maʻi. muaʻike, Children me keia maʻi pale pinepine e make. Na wale maikaʻi mea - he uuku prevalence o ka maʻi - 1 i ka 80.000 kanaka.

mōʻaukala 'ike

No ka mea manawa mua Joubert maʻi pale i hōʻike 'ia ma ka makahiki 1969 ma ka Palani neurologist Mari Zhuber. Ua anamanaʻo eha pōkiʻi me ka apnea,'āno'ē maka, noʻonoʻo retardation a me cerebellar vermis kahi e. Ma hope o ka mālama 'ia o? Anoee? Ea hoao i kēiaʻano o ka maʻi pale ia lŘlŘ a pau ma luna o ka honua me nā hui pili koko a me nā lāhuiʻokoʻa. Loaa ai i ka maʻi i ia ma ke kahua o ka? Acaeoey o ke kanaka embryo, e like me ka mea ua manaoio aku i ka hewa i loko o ka ulu ana o ka embryonic lolo hiki aku ai i ka hoike ana o ka maʻi pale. I ka mea, he nui syndromes me aaiaoe mutations i like symptoms, akā, Joubert maʻi pale maopopo ocular abnormalities, hypotonia iʻuʻuku mai, a naehana kāna hana.

Symptoms a me na hoailona

Inā mākou e huli Joubert maʻi pale, na symptoms hiki ke nānā 'ia e neural muli o; Ua hoike mai ai ia lapaʻau heterogeneity i loko o kekahi likeʻole, cognitive hoʻopilikia, hihia me ka olelo a me ke kāʻili 'ana. More ma mua o ka hapakolu o ka hoʻomanawanui iki mai ka mahina auditory kāna hana a 'ano' pilikia. Kākaʻikahi ka, akā, e hana i hoike mai ai ia hydrocephalus a me ka occipital encephalopathy. A hapaha o ka hoʻomanawanui iki mai loaʻa hakuʻala maʻi: cystic displzaii a congenital hepatic fibrosis. Like kanaka me Down maʻi pale, kekahi kanaka e loaa ana mai Joubert maʻi pale e i ka stereotypical hiʻona: lōʻihi maka, koʻikoʻi lae, kiʻekiʻe e pio mai hulu kuʻemaka, triangular waha, upturned ihu, nei iluna chin, a me ka haʻahaʻa-hoʻonoho pepeiao. No na keiki ka mea, o ka hooulu ana retardation, a me ka hele pilikia. assistive manaʻo pinepine koi 'ia no ka neʻe.

Pehea e hana

Maoli oe i e waleʻae? 'Aʻole i nā mea a pau, E hana' ia i loko o aaiaoe? I haawi mai ai ka manaolana no ka hou ana a me ka hana o ka maʻi. Mākou i ke aʻo mua o ka 'ohana mōʻaukala, ka lāhui i ke keʻena, e hoʻomaka i ka piha ninaninau o ka hoʻomanawanui. Hanu pilikia noi aku ka mālamaʻana apnea, kūikawā loa no ka loaa ana a me ka lako e kākoʻo hanu. I kekahi manawa ka mea, he mea e pono neurosurgical 'uao a me ka lapaʻauʻia, e kū i ke kāʻili' ana. Ma pōkole, ka mea hiki ke hana ia me Joubert maʻi pale, na kumu o i i? Anoee, a maopopo.

Ei i ka wā e hiki mai

Kēia mea,ʻaʻole no laila, Ka Ho 'Oponopono kahua o ke kanaka, ka poe i loaʻa Joubert maʻi pale. Photos o kēia nā mea maʻi i ole koke haawi i ka piha kiʻi o ko lākou mau hana, a me na hoailona mawahoʻikeʻia kokoke i ka elemakule. ke ola kuokoa a me ka hoʻomāhuahua mau ola kekahi mea loa oiaio, nae kākoʻoi ka mālama i loko o ka wā e ola loa. pono Man undergo regular ninaninau ana a pau nā loko, e kanaka hoʻoponopono i ka loaʻao o kupono ai '. Mawaho flaws ke hoike ma congenital anomalies, e like me mauae lehelehe, polydactyly a'āno'ē 'ole o ka oropharynx. I kekahi manawa, he excessive nui o na moku i ke koko i loko o ka lolo i e malama. He oiaio, he manawa pōkā pahū i hiki jerk i loko o kekahi minuke. Forecast no ka wā e hiki mai ke ola hilinaʻi nui loa ma ke degere o ka make ana o ka cerebellum. Ma nā hua'ōlelo, ke hoʻomanawanui i ka mahina me ka meaʻuʻuku Hawaii a me ka noʻonoʻo 'kāna hana, a me ka loaa kīnā o ke kino, a noho ma ka mea ano me ole manaolana o ka hou. Me keia maʻi pale hiki ole ke waiho unattended keiki me ka ÷ naehana hanu ole. Ma ka moe, ka mea hiki wale kinai iho. Pono regular 'inikua ponopono-mai e kanaka hoʻoponopono i ke kūlana o ka mea na nā loko. Ka noho maikaʻiʻana o ke keiki i ka pono ia me ka a aʻo ma luna o ka ulu o ka hanu. Ma ka iapaau ana oʻoki lāʻau lapaʻau a me ke kapuai hiki ke hoikeia mai, lāʻau lapaʻau, a me minimally invasiveʻoki kino.