Friedreich ta Ataxia: Bayyanar cututtuka, bincike da kuma magance

Ataxia - cutar, bayyana a incoordination na ƙungiyoyi, motility cuta da wasu karu a ƙarfi a cikin extremities. Daya jinsunan - da iyali Friedreich ta ataxia, ya fi na kowa nau'i na hereditary ataxias. Yana faruwa a tsakanin 2 da 7 da 100 000.

A cuta mafi sau da yawa fara a cikin shimfiɗar jariri, a kan 1-2 ga watan goma na rayuwa (ko da yake akwai lokuta inda aka same shi bayan shekaru 20). Ataxia yawanci shan wahala da dama 'yan uwa - yan'uwansa, mata, da kuma a mafi yawan lokuta shi ya auku a cikin wani aure a hankali iyalansu. Alamun bayyana sauri, cutar progresses sannu a hankali, yana shekaru da dama, kuma Yanã fitar da babba rashin jin daɗi ba tare da likita taimako.

Bayyanar cututtuka da cutar

A babban alama Friedreich ta ataxia - tabas Gait na haƙuri. Ya tafiya awkwardly yana sanya ƙafafunsa da fadi da kuma gaggarumar deviates daga cibiyar ga bangarorin. Lokacin da cutar progresses, asarar daidaituwa fallasa makamai da kuma tsokoki na kirji da fuska. Facial magana ya canza, shi slows saukar, shi ya zama jerky. Rage ko bace agara kuma periosteal reflexes (na farko a kan kafar, sa'an nan zai iya yada wa makamai). kunne saukad da akai-akai. Scoliosis ci gaba.

A Sanadin cutar

Wannan irin ataxias - hereditary, na kullum type, m hali. Yana da dangantaka da wani spinocerebellar ataxia, wanda shi ne wani rukuni kama da bayyanar cututtuka na cututtuka da raunuka da cerebellum, brainstem, laka da kuma kashin baya jijiyoyi, wanda sau da yawa tsarè dace ganewar asali. Duk da haka, daga cerebellar ataxia recessive cuta halin da siffar, yayin da wasu da aka daukar kwayar cutar a matsayin autosomal rinjaye hali. Wannan shi ne wani rashin lafiya yaro ne da aka haifa a ma'aurata a cikin abin da iyaye suke dako na pathogen, amma suna asibiti lafiya.

Wannan yana bayyana ataxia hada degeneration na kaikaice da kuma na baya ginshikan da laka, ya sa ta hanyar enzymatic da kuma sinadaran anomaly na unknown yanayi, da aka gada. Lokacin da cutar rinjayar da bim Gaulle Clark Kwayoyin da kuma raya ginshiƙai spinocerebellar hanya.

"A tarihi da cutar"

Friedreich ta ataxia cuta an yi alama a mai zaman kanta nau'i na fiye da 100 da suka wuce, wani Jamus farfesa magani N. Friedreich ta ataxia. Tun lokacin da 1860s, cutar da aka yi karatu na rayayye. Da zarar zaton aka sanya a 1982 cewa hanyar da ataxia ne mitochondrial cuta. A sakamakon haka, maimakon na kowa sunan "Friedreich ta ataxia" Kalmar "Friedreich ta ataxia cuta" An gabatar a matsayin mafi m gani multiplicity bayyananen cuta - neurological kamar kuma extraneural.

neurological cututtuka

Idan haƙuri yana Friedreich ta ataxia, cututtuka da ake gani mafi sau da yawa na farko - shi ne m, kuma m lokacin tafiya, musamman a cikin duhu, staggering, tuntu e. Don wannan alama shiga discoordination babba wata gabar jiki, rauni na kafa tsokoki. A farkon cutar iya canja rubutun hannu, dysarthria, magana ta auku a cikin yanayi explosiveness, staccato.

Hanawa na reflexes (agara kuma nadkostichnyh) za a iya lura duka biyu lokacin bayyanar wasu cututtuka, da kuma dogon kafin su. Tare da ci gaban ataxia ne yawanci zai yiwu su kiyaye total areflexia. Wani muhimmin alama ne Babinski, murdede hypotonia, nan da kafar tsokoki zama weaker, za atrophy.

Abnerval manifestations ataxia da kuma sauran cututtuka

A cutar halin kwarangwal nakasawa Friedreich ta ataxia. Marasa lafiya yiwuwa ga scoliosis, kyphoscoliosis, nakasar na yatsunsu da yatsun kafa. Saboda haka abin da ake kira tasha fridreyhova (ko dakatar Friedreich ta ataxia) - fasalin ta cutar Friedreich ta ataxia. Hotuna kamar ƙafa ba kyakkyawar fahimtar cewa irin wannan nakasawa ba hali wani lafiya jiki: yatsunsu pererazognuty a proximal phalanx da interphalangeal gidajen abinci tankwasa a high concave baka na ƙafa. A wannan canji na iya faruwa tare da goge.

Har ila yau, marasa lafiya ne batun endocrine cututtuka: su ne m cuta kamar ciwon sukari, ovarian tabarbarewa, infantilism, hypogonadism, da dai sauransu Daga gefe na view of yiwu cataract ..

Idan kamu da Friedreich ta ataxia, wasu kashi 90 cikin dari na lokuta shi zai a tare da zuciya rashin cin nasara, da m cin gaban cardiomyopathy, musamman hypertrophic. Marasa lafiya koka zafi a cikin zuciya, palpitation, dyspnea a kan aikinsa, kuma t. D. Kusan 50 bisa dari na marasa lafiya cardiomyopathy haddasawa mutuwa.

A cikin marigayi mataki na cuta a cikin marasa lafiya da alama amyotrophy, paresis, take hakki na makamai ji na ƙwarai. Zai yiwu ji hasara, na gani atrophy, nystagmus, wani lokacin keta aiki na pelvic gabobin da haƙuri shan wahala daga wani bata lokaci ba, ko, conversely, incontinence. A tsawon lokaci, marasa lafiya rasa ikon tafiya da kuma kula da kansu ba tare da taimakon. Duk da haka inna ci karo da duk wani nau'i ataxias, ciki har da Friedreich ta ataxia cuta da aka kiyaye.

Amma gigin-tsufa, a lokacin da irin cututtuka kamar cerebellar ataxia Friedreich ta ataxia, m data a kan shi tukuna: a manya gigin-tsufa ya auku, shi ne aka bayyana a cikin yara kamar yadda shi ne musamman rare, kazalika da shafi tunanin mutum retardation.

rikitarwa ataxia

Friedreich ta ataxia a mafi yawan lokuta da wahala ta congestive zuciya rashin cin nasara, kazalika da duk wani nau'i na numfashi gazawar. Bugu da kari, a cikin marasa lafiya da sosai high hadarin maimaita cututtuka.

Sharudda ga ganewar asali na Friedreich ta ataxia

Key bincike sharudda da cutar nuna quite a fili:

• gādon da cutar faruwa recessive hali.
• cutar ta fara kafin shekaru 25, mafi sau da yawa - a cikin shimfiɗar jariri.
• m ataxia.
• tendinous areflexia, wani rauni da atrophy na tsokoki na kafafu, da kuma daga baya hannunka.
• Asarar ji na ƙwarai ne na farko zurfin ƙananan reshe, sa'an nan na sama.
• Heart magana.
• kwarangwal musakai.
• endocrine cuta.
• cardiomyopathy.
• cataracts.
• atrophy na laka.

Kamar wancan DNA ganewar asali ya tabbatar da kasancewar wani m gene.

ganewar asali

Idan ya zo ga wannan cuta a matsayin Friedreich ta ataxia, ganewar asali ya kamata sun hada da wani likita tarihi, gudanar da cikakken kiwon lafiya jarrabawa da kuma nazari na tarihi na haƙuri da iyalinsa. Musamman hankali ne ya biya zuwa jarrabawa matsaloli tare da juyayi tsarin, kamar matalauta balance, Gait, kuma a lõkacin da karatu statics yaro, rashin reflexes da majiyai a cikin gidajen abinci. A haƙuri ba su taba kishiyar gwiwar hannu gwiwa kuskure a paltsenosovoy samfurin iya shan wahala tsãwa da dantsenka makamai.

A dakin gwaje-gwaje karatu akwai wani take hakkin amino acid metabolism.

Brain EEG a Friedreich ta ataxia detects yaxuwa Delta da kuma theta aiki, da rage daga cikin alpha kari. Lokacin da electromyography saukar axonal-demyelinating raunuka na azanci shine na gefe jijiya zaruruwa.

Domin ganewa na m kwayoyin halitta, kwayoyin gwaji ne da za'ayi. Amfani da DNA da ganewar asali ne kafa yiwuwar gado pathogen sauran yara a cikin iyali. Har ila yau hadaddun DNA bincikowa ga dukan iyali za a iya za'ayi. A wasu lokuta, prenatal DNA ganewar asali.

Lokacin da diagnosing kuma baya bayan ganewar asali da haƙuri ake bukata don yin na yau da kullum X-haskoki na kai, kashin baya, kirji. Idan dole, designate kwamfuta da Magnetic rawa tomography. A MRI na kwakwalwa sannan za a gani atrophy na laka da kuma kwakwalwa kara, da na sama sassan na cerebellar vermis. Har ila yau bukatar jarrabawa ta amfani da ECG da EhoEG.

bambanci ganewar asali

Lokacin da ganewar asali Friedreich ta ataxia wajibi ne don bambance da cutar daga mahara sclerosis, na tsarin jijiya amyotrophy, paraplegia iyali da kuma sauran ataxias, da farko cuta Louis - Bar, na biyu mita ataxia. Rashin lafiya Louis - Bara, ko telangiectasia, kuma ya fara a cikin shimfiɗar jariri, da kuma halin asibiti ta gaban m cuta Friedreich ta ataxia fadada kananan jini, rashin kwarangwal munanan.

Har ila yau, za a bambanta daga cutar ciwo Basso - Korntsveyga da ataxia lalacewa ta hanyar wani rashi na bitamin E. A wannan yanayin, da ganewar asali ne zama dole domin sanin jini matakan da bitamin E, gaban / rashi na acanthocytosis da kuma gano ta sia.

A lokacin da ganewar asali ne zama dole don ware na rayuwa cututtuka da wani autosomal recessive yanayin gado, tare da juya-cerebellar ataxia wasu siffofin.

Bambanci daga Friedreich ta ataxia mahara sclerosis cuta ne rashin agara areflexia, a lokacin da babu wani amyotrophy kuma murdede hypotension. Har ila yau, a lokacin da ba ya lura abnerval sclerosis bayyanar cututtuka, babu canje-canje a kan CT da MRI.

ataxia magani

Marasa lafiya bincikar lafiya tare da Friedreich ta ataxia magani ya kamata a ba da wani neurologist. A mafi magani ne symptomatic, da nufin iyakar janye manifestations da cutar. Yana hada restorative far hada da bayar da ATP shirye-shirye Cerebrolysin, B bitamin, da kuma anticholinesterase jamiái. Bugu da kari, jiyya na ataxia suna da muhimmanci kwayoyi tare da tabbatarwa daga mitochondrial aiki - kamar succinic acid, riboflavin, bitamin E. Don inganta tsokar metabolism wajabta Riboxinum, kokarboksilazu et al.

Yi restorative magani da bitamin. Magani ya kamata a maimaita lokaci zuwa lokaci.

Tun da babban dalilin da cutar zafi - m scoliosis, marasa lafiya nuna saka da orthopedic corset. Idan takalmin katakon gyaran kafa ba ya taimaka, da dama daga m hanyoyin (kashin baya saka titanium sandunansu su hana kara ci gaba da scoliosis).

Duk wadannan matakan da aka tsara don ci gaba da haƙuri kamar yadda a tsawon lokaci da kuma za ka iya dakatar da ci gaba da cuta.

forecast ataxia

Hasashen na irin cututtuka a general ya fi karfinsu. Neuropsychiatric cuta ana ci gaba sannu a hankali, duration da cutar dabam yadu, amma a mafi yawan lokuta ba ya wuce shekaru 20, 63% na maza (mata hangen nesa ne mafi m - bayan da farko da cuta ne kusan 100% live fiye da shekaru 20).

A Sanadin mutuwa ne mafi sau da yawa da zuciya da kuma huhu gazawar, da rikitarwa da cututtuka. Idan haƙuri ba ya sha wahala daga ciwon sukari da kuma cututtukan zuciya, da ransa iya wuce har zuwa cikakke tsufa, amma irin haka ne rare. Duk da haka, saboda da symptomatic magani na inganci da tsawon rayuwa da marasa lafiya na iya ƙara.

rigakafin

Rigakafin cutar Friedreich ta ataxia dogara ne a kan kiwon lafiya da kuma kayyade shawara.

Ataxia marasa lafiya na nuna wani mai wasanni likita cibiyar, godiya ga wanda tsokoki suna ƙarfafa, rage discoordination. Darussan kamata da farko za a mayar da hankali a kan horo da sikẽli da tsoka ƙarfi. Jiki far da kuma daidaituwa bada damar marasa lafiya ya zama aiki, muddin zai yiwu, a Bugu da kari, a wannan yanayin, ya hana ci gaban cardiomyopathy.

Bugu da kari, marasa lafiya za su iya amfani da tallafi, ga su inganta rayuwar - canes, kekunan, wheelchairs.

Da ikon amfani da ya kamata a rage zuwa 10 g carbohydrate / kg, to ba tsokane aibi kayan haɓɓaka aiki na samar da makamashi metabolism.

Haka ma wajibi ne don kauce wa cututtuka, hana raunin da buguwa.

Daya muhimmanci factor ne da rigakafin cutar watsa rigakafin ataxia gaji. Idan zai yiwu, ya kamata ka kauce wa haihuwar yara idan wani iyali tarihi da cutar Friedreich ta ataxia, da aure tsakanin dangi.