Ataxia o Friedreich: tohu, Te tātaritanga me te rongoā

Ataxia - te mate, whakakitea i roto i te incoordination o nekehanga, motility whakararuraru ki etahi hekenga i roto i te kaha i roto i te topito. Kotahi momo - ko te whānau ataxia o Friedreich, te puka tino noa o ataxias tuku. puta te reira i waenganui i 2 me 7 ia 100 000.

Ko te mate tino maha haamata i roto i te tamarikitanga, i runga i 1-2 tekau tau th o te ora (ahakoa i reira he take te wahi e kitea ai i muri i te 20 tau). te tikanga mamae Ataxia mau melo o te utuafare e rave rahi - teina, tuahine, me i roto i te nuinga o te wā puta ai i roto i te mau utuafare te faaipoiporaa matao. hohoro tohu puta, āta kauneke te mate, pumau hoki tekau tau, me te hopoi mai nui hūhi kahore āwhina hauora.

Tohu o te mate

Ko te āhuatanga matua o te ataxia o Friedreich - kiwi e pahuhu o te manawanui. haere ia awkwardly e ona waewae deviates whanui, me te ta i te pokapū ki te taha. A, no te kauneke te mate, mate o te ruruku kitea ringa me uaua o te pouaka me te mata. taui mata, pōturi reira iho, riro te reira ka tuketuke te. Heke ngaro iohere me reflexes periosteal ranei (tuatahi i runga i te waewae, ka kia horapa ki nga ringa). makaka pinepine taringa. kauneke scoliosis.

Ko te take o te mate

Tenei momo o ataxias - tuku, momo ma'i, pūāhua ahu whakamua. pā ana te reira ki te ataxia spinocerebellar, i te mea he rōpū rite ki tohu o mate meinga e pāpaka o te roro tuarongo, brainstem, ua me te raru filosilivá, e maha poka ki te tātaritanga tika. Heoi, i roto i ataxia cerebellar mate ngoikore āhuatanga e te āhua, i te tahi atu tuku te rite te huaira ngoi autosomal. Ko whanau he tamaiti e mate ana te ki te rua, i roto i nei te mau metua e kawe o te tukumate, engari he hauora hauora.

whakakitea ana tēnei te ataxia ngā tupu o nga pou lateral me posterior o te ua, meinga e enzymatic me Pākatokato matū o te natura unknown, riro te. A, no te pānga o te mate te kurupae Gaulle Clark pūtau me pou muri ara spinocerebellar.

"Ko te hītori o te mate"

mate ataxia o Friedreich i kitea i kua i roto i te puka motuhake o neke atu i te 100 matahiti i teie nei, te ahorangi Tiamana o te ataxia rongoā N. Friedreich o. Mai te 1860, kua te mate kua ako kaha. Kia i hanga whakapae i roto i 1982 e te take o te ataxia he disorders punaraungao. Ka rite ki te hua, hei utu o te ingoa noa "mate ataxia o Friedreich" "ataxia o Friedreich" wā kua whakaarohia rite te tika atu faaiteraa whakaata liunga mate - neurological rite me extraneural.

tohu neurological

Ki te he ataxia o Friedreich, e kua kite te nuinga o maha te tuatahi tohu te manawanui - he reira rorirori, me te mōhio ka haere ana, ina koa i roto i te pouri, wiri, tutukitanga waewae. Ki tenei tohu uru discoordination wahi o runga, ngoikore o nga uaua waewae. I kia huri te timatanga o te mate te ringaringa, dysarthria, puta kupu i roto i te āhua explosiveness, staccato.

Ka taea te kite inhibition o reflexes (iohere me nadkostichnyh) e rua i roto i te ahua o te tahi atu tohu, a roa ratou i mua. Ki te ahunga whakamua o te ataxia ko te tikanga ka taea ki te mau areflexia katoa. Ko tētahi atu tohumate nui ko Babinski, hypotonia uaua, ka huaina i riro nga uaua waewae ngoikore, ka atrophy.

faaiteraa Abnerval o ataxia me ētahi atu tohu

huru no te mate e ataxia o Friedreich deformation kōhiwi. Tūroro e pängia ana ki te scoliosis, kyphoscoliosis, deformities o nga maihao, me waewae. Na-ka karanga mutu fridreyhova (ranei mutu ataxia o Friedreich) - mate o āhuatanga ataxia o Friedreich. Photos rite waewae hoatu he mārama māramatanga e kore te mea angamaheni mo te tinana hauora taua deformation: maihao pererazognuty i te phalanx me interphalangeal hononga proximal piko i kikorangi hakoko tiketike o te waewae. kia puta te taua huringa ki brushes.

Ano, e ngohengohe ki te tūroro endocrine mate: he ratou disorders auau pērā i te mate huka, pōrearea ovarian, infantilism, hypogonadism, me ētahi atu i te taha o te tirohanga o te pokonga taea ..

Ki te pāngia ki te ataxia o Friedreich, ka ōrau etahi 90 o wā e haere tahi i te reira i te kore ngakau, te whanaketanga whakamua o cardiomyopathy, rawa hypertrophic. amuamu Tūroro o te mamae i roto i te ngakau, palpitation, dyspnea i oma me te t. D. Fatata 50 ōrau o te tūroro take cardiomyopathy mate.

I roto i te mutunga o te wā o te mate i roto i te tūroro ki te amyotrophy tohua, paresis, maumaui o ringa tūtohutanga. Pea mate rongo, atrophy whatu, nystagmus, i ētahi wā takahi mahi o nga whekau papatoiake me mamae te manawanui i te roa ranei, hei kōrero, taikaha. Neke atu i te wa, ngaro tūroro te kaha ki te haere me te tango i te tiaki o ratou kahore āwhina. Otiia pāpāngia tūpono i roto i tetahi ataxias puka, tae atu mate ataxia o Friedreich i kitea.

Ko tupu, ka taua mate rite ataxia cerebellar ataxia o Friedreich, raraunga tika i runga i te reira ano: i roto i puta pakeke tupu, kua whakaahuatia te reira i roto i ngā tamariki kia rite te mea tino onge, me te retardation hinengaro.

fifi ataxia

faingataa ataxia o Friedreich i nuinga o te wā e kore te ngakau congestive, me te momo katoa o te kore romahā. I tua atu, i roto i tūroro ki mōrea tiketike rawa o mate recurrent.

Paearu mō te tātaritanga o te ataxia o Friedreich

tino mārama paearu tātaritanga matua mo te mate tohua:

• tupu o te mate puta huaira;
• haamata i mua 25 tau, atu maha te mate - i roto i te tamarikitanga;
• ataxia whakamua;
• areflexia tendinous, ngoikore, me te atrophy o nga uaua o waewae, me te ringa i muri;
• Te rironga o te tūtohutanga he tuatahi e alangá raro hohonu, ka te runga;
• kupu te peroo;
• deformities kōhiwi;
• disorders endocrine;
• cardiomyopathy;
• awhiowhio wai;
• atrophy o te ua.

Ko te kupu haapapu DNA tātaritanga te aroaro o te ira.

tātaritanga

A, no te haere mai te reira ki tenei mate rite ataxia o Friedreich, kia ngā tātaritanga te hītori hauora, te whakahaere i te whakamātautau hauora tonu, me te ako o te hītori o te manawanui, me tona utuafare. utua ngā aro te ki raruraru whakamätautau ki te pūnaha io, pērā i te toenga rawakore, kiwi e, a ka ako te tamaiti statics, kore o reflexes me sensations i roto i te hononga. e kore e taea ki te pa ki te Misses whatīanga turi ritenga i paltsenosovoy tauira kia mamae faaati ki ringa maro te manawanui.

I roto i te rangahau taiwhanga reira ko te takahi o te waikawa amino pākia.

Brain Tirohia te i roto i te ataxia o Friedreich kitea raorao E ruia ana me Theta mahi, te whakaiti o te manawataki ārepa. A, no te whakakitea electromyography axonal-demyelinating pāpaka o rongo weu karere piringa.

Hoki te rapunga o ira hapa, kawea whakamātautau ira i roto. Mā te DNA tātaritanga ko whakapumautia taea tupu tukumate atu tamariki i roto i te utuafare. taea hoki te kawea tātaritanga DNA matatini mo te whānau katoa i roto i. I roto i ētahi wā, prenatal tātaritanga DNA.

A, no te Tātaritia a muri i muri tātaritanga hiahiatia te manawanui e ki kia auau X-hihi o te matenga, tuarā, uma. Ki te tika, tautapa i te rorohiko me te tomography te kōwarotanga autō. I taea reira te kite MRI o te roro atrophy o te ua, me te kakau roro, te wāhanga o runga o te vermis cerebellar. Me hoki whakamātautau mā te whakamahi i ECG me EhoEG.

tātaritanga pārōnaki

A, no te he e tika ana te tātaritanga o te ataxia o Friedreich ki rerekëtanga ki te mate i te sclerosis maha, amyotrophy neural, paraplegia whānau me ētahi atu ataxias, matua mate Louis - Bar, te rua o nga ataxia auau. tīmata hoki Korimi, telangiectasia ranei, i roto i te tamarikitanga, me te āhuatanga hauora e te aroaro o te ataxia roha o oko toto iti, te kore o abnormalities kōhiwi mate whānui o Friedreich - mate Louis.

Hoki ki te kia kitea i te mate syndrome Basso - Korntsveyga me ataxia meinga e te hē o te huaora E. I roto i tenei take, he tika te tātaritanga ki te whakatau i te taumata toto o te huaora E, te aroaro / ngaro o acanthocytosis me te tūhura i tona lipid.

I te wa o te tātaritanga he tika ki te tutakina pūkoro tinana mate ki te autosomal aratau ngoikore o tupu, tahi e te ataxia atu puka whatu-cerebellar.

Ko te rerekētanga i ataxia mate sclerosis maha o Friedreich ko te kore o te iohere areflexia, i te mea kahore amyotrophy me hypotension uaua. Ano, ka kore kitea tohu sclerosis abnerval, i reira he kahore huringa i runga i CT me MRI.

maimoatanga ataxia

kia tūroro pāngia ki te maimoatanga ataxia o Friedreich kia hoatu e te toketā neave. I roto i te atu maimoatanga he symptomatic, e hāngai ana ki faaiteraa withdrawal mōrahi o te mate. Kei roto te reira i therapy whakahou kei whakahaere taka ATP Cerebrolysin, huaora B, me āpiha anticholinesterase. I tua atu, i te maimoatanga o te ataxia he taero nui ki te tiaki o te mahi punaraungao - pērā i te waikawa succinic, Huapuhuikowhai, huaora E. Ki te whakapai ake i pākia myocardial whakaritea Riboxinum, kokarboksilazu et al.

Whakamana maimoatanga whakahou ki huaora. kia korerotia Treatment wā.

Mai te take matua i roto i te mamae mate - scoliosis ahu whakamua, whakaaturia tūroro mau te koere orthopedic. Ki te kore e tauturu i te awhi, he maha o ngā tukanga hāparapara (ki te tuaiwi whakaurua tokotoko Titanium ārai whanaketanga atu o te scoliosis).

E hangaia enei mehua katoa ki te pupuri i te manawanui rite te wā roa o te wā, me te ka taea e koe te aukati i te ahunga whakamua o te mate.

ataxia matapae

Matapae o taua mate i roto i te kino whānui. Kei te ahu whakamua disorders Neuropsychiatric āta, roanga o te mate rerekē whānui, engari i roto i nuinga o te wā e kore e nui ake te 20 tau, 63% o nga tangata (ko atu pai wahine waitohunga - i muri i te mea tata 100% ora roa te tīmatanga o te mate atu i te 20 tau).

He tino maha nga take o te mate te ngakau me te kore pūkahukahu, pōauautanga o ngā mate hopuhopu. Ki te kore e tukua e te manawanui i mate huka, me te mate ngakau, Ka taea e tona ora muri ake ki te koroheketanga, engari he onge ngā take pēnei i. Otiia, e tika ana ki te maimoatanga symptomatic o te kounga me te roanga o te ora o te tūroro kia whakapiki ake i.

ārai

hāngai Prevention o ataxia mate a Friedreich te i runga i tohutohu hauora, me te ira.

tūroro Ataxia whakaatu te pokapū hauora hākinakina, whakawhetai ki nei e whakakaha uaua, discoordination iti. matua kia arotahi mahi i runga i te whakangungu o te pauna, me te uaua kaha. therapy tinana me mahi whakatika tukua tūroro ki te kia kaha rite te roa rite taea, i roto i te tua, i roto i tenei take, i haukotia e te whanaketanga o te cardiomyopathy.

I tua atu, ka taea e tūroro whakamahi i te taonga ki te whakapai ake i to ratou kounga o te ora - tootoo, kaihīkoi, teketeke.

kia heke te kohi mana ki te 10 g te warowaihā / kg, kia kore whakapataritari koha whakareinga o te pākia e pūngao.

Ko reira tika hoki ki te karo i ngā mate hopuhopu, te ārai whara me te haurangi.

Ko tētahi take nui ko riro te ārai o te mate tuku ārai ataxia. Ki te taea, kia karo koe i te whanautanga o ngā tamariki ki te te aamu utuafare o te ataxia te mate Friedreich o, me te faaipoiporaa i waenganui whanaunga.