Friedreich ka Ataxia: Symptoms,ʻike, a me ka iapaau ana

Ataxia - i ka maʻi, hoikeia ma ka incoordination o ka neʻe 'ana, motility kāna hana me kekahi emi ma ka ikaika i loko o nāʻaoʻao. Kekahi? Ueo - i ka ohana Friedreich ka ataxia, o ka loa e like me ka ano o hereditary ataxias. Ia ma waena o 2 a me 7 no 100 000 ia lŘlŘ.

Ka maʻi loa pinepine hoʻomaka ma ka noho 'ana kamaliʻi, ma 1-2 la makahiki o ke ola (he mau hihia ma ua loaʻa ia ma hope o 20 makahiki). Ataxia IeAUPIIe, IAa IO poino kekahi mau 'ohana - kaikunane, kaikuahine, a me ka hapanui hihia ia ia lŘlŘ i loko o ka mare koko lākou poʻe'ōhua. Symptoms hou koke, ka maʻi progresses lohi, mau no ka makahiki, a lawe nui discomfort me ka 'inikua kōkua.

Symptoms o ka maʻi

Ke kumu nui hiʻona o Friedreich ka ataxia - maopopo gait o ka hoʻomanawanui. He hele awkwardly lalau i kona mau kapuwai ka laula, a me ka sweeping deviates, mai ka piko a hiki i ka aoao. I ka wā o ka maʻi progresses, make o ka ōhumu paku ole ia i na mea kaua a me nāʻiʻo o ka pahu a me ka maka. Lehalehu t 'aoʻao o hoʻololi, ka mea,' aʻole hoʻi ia, e lilo ia i jerky. Hoemi ole nalo tendon a periosteal reflexes (mua ma ka wawae, alaila, e hohola ai i nā mea kaua). pepeiao kulu pinepine. Scoliosis progresses.

Nā kumu o ka maʻi

Kēiaʻano o nā ataxias - hereditary, maʻi type, e holumua ai külana. Ua pili i ka spinocerebellar ataxia, i mea he pūʻulu like no symptoms o ka mai, kena ae la ia e lesions o ka cerebellum, brainstem, spinal kaula a me ka spinal nä olonä, a pinepine interferes me ka kuponoʻike. Eia naʻe, i waena o cerebellar ataxia recessive maʻi wehewehe aku ma ke kinona, oiai ka mea'ē aʻe ua pū i hiki i ka autosomal Hoʻohaku kāna moʻolelo. I mea ua hanau he maʻi keiki i kekahi mau ma a na makua e nā moku halihali mokulele o ka pathogen, akā, e clinically ola.

Keia ua hoikeia ataxia hui degeneration o ke kīloi paʻewa a me ka posterior kolamu o ka spinalʻaha, kena ae la ia e enzymatic a me Nine Inch anomaly o ka ike ole ia ano, ua ili mai iā ia. I ka wā o ka maʻi e loli ai na kaola Gaulle Clark keena a me ka hope o kia spinocerebellar ala.

"Ka moolelo o ka maʻi"

Friedreich ka ataxia maʻi i Ua kahiāuli ma ka kuokoa ano o ka oi ma mua o 100 makahiki aku nei, he Kelemānia Kumu o ka lapaau N. Friedreich ka ataxia. Mai ka 1860s, i ka maʻi, ua aʻo 'Imi. Once nā mea mahuʻi i i ka 1982 i ka aoao o ka ataxia i mitochondrial kāna hana. E like me ka hopena, kahi o ka pono inoa "Friedreich ka ataxia" makahiki "Friedreich ka ataxia maʻi" Ua manaoia like me ka hou pololei manaʻo multiplicity hoikeana o ka maʻi - neurological e like me ka extraneural.

neurological symptoms

Inā ka hoʻomanawanui i Friedreich ka ataxia, symptoms mea i ike loa pinepine ka mua - ia mea awkward a me ka manaʻo, ka wā e hele, o ka oi aku i loko o ka pouli, i kunewa, e kuiaʻi. A hiki i keia symptom hui discoordination keena lala, nawaliwali o ka'ūhā nāʻiʻo. I ka hoʻomaka o ka maʻi e hoʻololi i ka lima, dysarthria, olelo ia lŘlŘ ma ke ano maoli explosiveness, staccato.

Inhibition o reflexes (tendon a me ka nadkostichnyh) hiki ke malama nā ma keʻano o nā symptoms, a me ka lōʻihi ma mua o lākou. Me ka Holomua o ka ataxia mea IeAUPIIe, IAa IO hiki ke malama huina areflexia. Kekahi mea nui symptom o Babinski, muscular hypotonia, i hoakaka ia ma ka uha nāʻiʻo e nawaliwali, e atrophy.

Abnerval hoikeana o ka ataxia a me nā symptoms

I ka maʻi ua wehewehe aku ma skeletal deformation Friedreich ka ataxia. Hoʻomanawanui iki mai prone i ka scoliosis, kyphoscoliosis, deformities o na manamana a me nā manamana wāwae. A-kapaia, WAINIHA ST fridreyhova (a pau ana Friedreich ka ataxia) - hiʻona ka maʻi Friedreich ka ataxia. Photos me na wawae e haawi aku i ka maopopo pau loa ia ia deformation mea ole typical no ke ola i ke kino: manamana pererazognuty i loko o ka proximal phalanx a me ka interphalangeal ami lena ma kiʻekiʻe concave e pio mai ana o ka wāwae. Ka ua loli ke'ākoʻakoʻa me brushes.

Nō hoʻi, nā mea maʻi e malama i ka endocrine maʻi: ka mea, ua pinepine kāna hana e like me mimikō, ovarian dysfunction, infantilism, hypogonadism, etc. Mai kaʻaoʻao o ka Hawaii o ka hiki cataract ..

Inā diagnosed me Friedreich ka ataxia, kekahi 90 pakeneka o ka hihia ia e ke ukali ma ka naau ka hoʻokō 'ole, ka mea e holumua ai kūpono' ana o ke cardiomyopathy, o ka oi aku hypertrophic. D. aneane 50 pakeneka o ka hoʻomanawanui iki mai cardiomyopathy kumu make nā mea maʻi ohumu ana o kaʻeha ma ka naʻau, palpitation, dyspnea ma exertion a me ka 'ole..

Ma ka hopena o ke kahua o ka maʻi i loko o nā mea maʻi me na hiohiona amyotrophy, paresis, aʻe 'ana o nā mea kaua pā lonoaʻili. Hiki lohe poho, optic atrophy, nystagmus, hana kue i kekahi manawa hana o ka pelvic nā loko, a me ka hoʻomanawanui poino mai ka lohi ole, conversely, incontinence. Over manawa, e hoomanawanui i nele i ka hiki i ka hele, a lawe malama ana ia lakou iho me kōkua. Aka hoi lōlō pilikia i loko o kekahi palapala ataxias, a me Friedreich ka ataxia maʻi i malama.

Like no ka dementia, ka wā i na maʻi like cerebellar ataxia Friedreich ka ataxia, pololeiʻikepili ma luna o ka mea i: i loko o nā mākua dementia i, ua ho'ākāka 'ia ma ka mea i loko o nā keiki e like me ka mea i loa pohihihi, e like me ka noʻonoʻo' retardation.

complications ataxia

Friedreich ka ataxia i loko o ka hapanui o na hihia ua huikau ma congestive naʻau e hemahema, e like me nā mea a pau ano o naehana hanu ole. Eia hou kekahi, i loko o nā mea maʻi me ka kiʻekiʻe loa pilikia o recurrent nā mea palahēhē.

'Oihana no kaʻike, a Friedreich ka ataxia

Key PalekanaEND_LINK ana hoʻohālike no ka maʻi i hōʻikeʻano maopopo:

• hooilina o ka mea maʻi ia lŘlŘ recessive kāna moʻolelo;
• ka maʻi hoʻomaka mua makahiki 25, oi pinepine - ma ka kamaliʻi;
• e holumua ai ataxia;
• tendinous areflexia, nawaliwali a me atrophy o na nāʻiʻo o nā wāwae, a me ka hope lima;
• Loss o ka pā lonoaʻili mea mua hohonu haʻahaʻa lala, alaila, o ka luna;
• blurred olelo;
• skeletal deformities;
• endocrine kāna hana;
• cardiomyopathy;
• cataracts;
• atrophy o ka spinal kaula.

Pela DNAʻike, keʻae i ke alo o ka hemahema'ōewe.

ʻike,

I ka wa e hiki mai a hiki i kēia maʻi like Friedreich ka ataxia,ʻike, e loaʻa ka 'inikua mōʻaukala, hoʻomaka i ka piha' inikua hookolokolo a me ka haʻawina o ka mōʻaukala o ke ahonui, a me kona ohana. Mau noonoo ana ua uku keia hookolokolo ana pilikia i me ka ko mākou hopohopo'ōnaehana, e like me ilihune kaulike, ana, 'a me këia wā statics keiki, nele o reflexes a me ka waiʻona ma ke i loko o na ami. Ke hoomanawanui mea,ʻaʻole hiki ke hoʻopā i ke ku pono kuʻekuʻe aku kukuli misses ma paltsenosovoy hāpana ke ae aku tremor me ka lima i na mea kaua.

I keʻena hoʻokolohua haʻawina aia mea he 'aʻe' ana o'aminoʻakika pūnao.

Beriana EEG ma Friedreich ka ataxia huai ae eiei? Aaeuoa a me theta ha awina, na ka ho'ēmiʻana o ke Alpha pāpana. I ka electromyography hōʻike axonal-demyelinating lesions o sensoryʻike ākea nā aʻalolo olona.

No ka mea ka loaʻaʻana o ka hemahema nā'ōewe, aaiaoe ikea ai ua lawe mai. E ho ohana i DNAʻike, ka hoʻokumu 'ia manawa kūpono hooilina pathogen nā keiki i loko o ka' ohana. I eiiieaena DNA lapaʻau 'ana no ka' ohana a pau hiki ke lawe mai. Ma kekahi mau hihia, prenatal DNAʻike.

I ka diagnosing a a laila ma hope oʻike, ua koi 'ia ke hoʻomanawanui, e e regular X-na kukuna o ke poo, spine, umauma. Inā pono, i hoʻokohu 'ia i ka kamepiula a me kaʻume mākenēki resonance tomography. Ma MRI o ka lolo hiki laila, e ike atrophy o ka spinal kaula a me ka lolo kumu, ka luna pauku o ka cerebellar vermis. No hoi e pono ai keia hookolokolo ana hoʻohana ECG a me EhoEG.

palena pauʻike,

I ka mea pono i kaʻike, a Friedreich ka ataxia e differentiate i ka maʻi, mai mau sclerosis, neural amyotrophy, paraplegiaʻohana a me nā ataxias, kuhikuhi maʻi Louis - Bar, i ka lua o ka alapine (frequency) ataxia. Maʻi Louis - Bara, a telangiectasia, kekahi helu kuhi puke ma ka wā kamaliʻi, a ua wehewehe aku clinically ma ke alo o ka nui maʻi Friedreich ka ataxia? Anoe? O liʻiliʻi moku koko, nele o skeletal abnormalities.

No hoi ia e ike okoa mai ka maʻi maʻi pale Basso - Korntsveyga a me ataxia, kena ae la ma kekahi deficiency o ka wikamina E. Ma keia hihia, i kaʻike, he pono e hooholo i ka pae koko o ka wikamina E, i ke alo / wa e kaawale aku o ka acanthocytosis, a makaikai i kona lipid.

I ka manawa o kaʻike, he pono ke hookaawale ia metabolic maʻi he autosomal recessive pololei o ka'āina hoʻoili, pu ma ka milo-cerebellar ataxia nā 'ano apau loa me.

Ke koena unuhi mai Friedreich ka ataxia mau sclerosis maʻi nō ka nele o ka tendon areflexia, ka wāʻaʻole hoʻi he amyotrophy a me muscular hypotension. Nō hoʻi, i ka wā i nānāʻana aku i abnerval sclerosis symptoms, eiaʻaʻohe loli ma luna HI a me MRI.

ataxia lapaʻau

Hoʻomanawanui iki mai diagnosed me Friedreich ka ataxia lapaʻau e e haawiia mai e ka neurologist. I hou lapaʻau mea symptomatic, nona i kā mākou withdrawal hoike ana mai o ka maʻi. Ua nā restorative Inc ec ka lawelawe ana ATP hoomakaukau Cerebrolysin, B nā wikamina, a me anticholinesterase konohiki. Eia hou, i ka lapaau ana i ka ataxia e nui ai 'me ka malama ana o mitochondrial papa - e like me succinicʻakika, riboflavin, wikamina E. No ka hoʻoikaika' ana myocardial pūnao hoakaka ia Riboxinum, kokarboksilazu listen'ōlelo.

Performed restorative lapaʻau me nā wikamina. Lapaʻau E e hai ma ke kamepiula.

Mai ka papa kuhikuhiE kumu i loko o ka maʻi eha - e holumua ai scoliosis, e hoomanawanui i hōʻike 'ia e lei ana i ka orthopedic corset. Inā ke koo aku, aole ia i ke kōkua, he helu oʻoki lāʻau lapaʻau ke kaʻina hana (spine hookomoia titanium mau laau la e ole hou 'ana o ka scoliosis).

A pau o kēia mau ana i ke hoʻololi i ka malama i ka hoʻomanawanui i ke au hou o ka manawa, a e hiki ana i ka holomua o ka maʻi.

kēla ataxia

Wānana 'ana o ia mau maʻi i loko o kekahi mau noho lakou malaila. Neuropsychiatric kāna hana e holo pono lohi, lōʻihi like 'ole o ka maʻi loli aʻe kaiāulu, akā, ma ka hapanui o na hihia, aole e oi aku mamua o 20 makahiki, 63% o na kanaka (wahine prognosis Ua oi maikaʻi - ma hope o ka hoouka kaua ana o ka maʻi i kokoke 100% ola hou ma mua o 20 makahiki).

Nā kumu o ka make mau loa pinepine i ka naau a me ka pulmonary e hemahema, complications o infectious ka maʻi. Inā ka hoʻomanawanui 'aʻole i hana eha iaʻi mai ka mimikō a me ka naau maʻi, i kona ola hiki mau mai a hiki i ka oo elemakule, akā, na hihia i pohihihi keia. Aka, aie i ka symptomatic lapaau ana o ka pono a me ka lōʻihi like 'ole o ke ola ana o nā mea maʻi i mahuahua.

Kāohi

Kāohiʻana o ka maʻi Friedreich ka ataxia ua ka nānā 'ana ma luna o' inikua, a aaiaoe aʻoaʻo 'ia.

Ataxia hoʻomanawanui iki mai hōʻike i ka haʻuki 'inikua-oaio? A, i ke aloha i ka i nāʻiʻo i hoʻoikaika, hoemiia discoordination. Kino e kuhikuhi e hoʻomōhala ma ke aʻo o ke kaulike a me ka Muscle ikaika. Helu Inc a corrective kino ae nā mea maʻi e e hana like loa me hiki, ma ka hou, ma keia hihia, hooki i ka ulu ana o ka cardiomyopathy.

Eia hou, e hoomanawanui i ke hoʻohana i nā kōkua iā ia, e hoʻoikaika i ko lakou mea e like ai o ke ola - Kanai, Walker, wheelchairs.

E E hoemi ia ka mana hokii, i 10 g. carbohydrate / kg, e ole hoonaukiuki he hewa ma holomua o ka ikehu pūnao.

Ua mea no hoi e pono ai ke pale aku infectious maʻi, ua ālai 'ia nā palapū a me intoxication.

ʻO kekahi mea nui ololi o ka Kāohiʻana o ka maʻi EYI Kāohi ataxia ili mai iā ia. Inā hiki, oe e pakele i ka hanau ana o ke keiki ina he ohana mōʻaukala o ka maʻi Friedreich ka ataxia, a me ka mare ma waena o hoahanau.