Friedreich ta ataxia cuta: cututtuka, ganewar asali, magani code bisa ga ICD-10

Ataxia faruwa a cututtuka daban-daban na tsakiya m tsarin. Dukan su suna hade da munanan a cerebellar tsarin. Mafi yawa daga cikin wadannan cututtuka ne a kayyade a cikin yanayi da kuma gaji. Daya daga cikin wadannan anomalies ne Friedreich ta ataxia cuta. Wannan Pathology aka dauke su fairly kowa a kwatanta da sauran chromosomal lahani. Bugu da kari ga juyayi tsarin, shi bazuwa zuwa wasu gabobin. A musamman wannan yana zartuwa ga zuciya da kuma tsokoki. Idan aka kwatanta da sauran ataxias, cutar ba za a iya bincikar lafiya a wani wuri shekaru, kamar yadda shi ya sa kanta da aka sani kawai zuwa shekaru 20.

Pathology na Friedreich ta ataxia - abin da yake da shi?

Friedreich ta ataxia cuta - a neurological cuta cewa dangantaka da kwayoyin pathologies. Advance shakkun wannan anomaly ne da wuya sosai, saboda shi ba ya bayyana kanta a cikin shimfiɗar jariri. Haka kuma cutar sau da yawa gudanar a cikin iyalai. Saboda haka, a lokacin da irin wannan take hakki mata masu ciki ya kamata sha cikakken kayyade gwaje-gwaje.

Tarihi da yaduwar cuta

Ataxia Friedreich ta ataxia aka farko gano a matsayin wani jinsin cuta a cikin 60-ies na XIX karni. A daidai wannan lokaci shi gano cewa epidemiology wannan anomaly ne m. Shi ne kuma zai yiwu a gano wata alaka tsakanin cutar da kuma kabilanci da marasa lafiya. Mafi sau da yawa, wannan Pathology auku a mutane haife ta jini aure. Domin wannan dalili, shi ne mafi kowa daga karamar kabilun. Idan aka kwatanta da sauran ataxias, Friedreich ta ataxia ne fairly na kowa cuta. Yana auku a 1-7 mutane da dubu 100 yawan jama'a. Yana yanzu, aka sani da kwayoyin cuta kai ga wannan cuta, haka da iyali tarihin tarihin da shi za a iya bincikar lafiya a mataki na fetal ci gaba.

A Sanadin cutar Friedreich ta ataxia

Don gane da asalin da cutar Friedreich ta ataxia yana daukar kwayar cutar, da kuma rarraba, shi wajibi ne don sanin etiology wannan anomaly. Wannan Pathology da dangantaka da hereditary chromosomal lahani. Yana yana daukar kwayar cutar a matsayin autosomal recessive hali a kan al'ummomi. Saboda haka da cutar sau da yawa samu a cikin iyalai. A ganewa yara na consanguineous aure aukuwar wannan cuta da aka kara. Saboda haka, wadannan iyalai bukatar for sosai jarrabawa na yaro shiryawa. Masana kimiyya sun gano cewa duk marasa lafiya da cutar da kayyade aibi a tara chromosome. Idan daya daga cikin iyaye gano wannan anomaly, da damar cewa yaro zai zama rashin lafiya, shi ne 50%. Duk da hereditary yanayi da cutar, akwai muhalli triggers cewa zai iya sa chromosome maye gurbi a lokacin embryogenesis. Wadannan sun hada da: addictions (kwayoyi, barasa), radiation, danniya.

A pathogenesis na Friedreich ta ataxia munanan

Babban bayyanuwar da cuta ne cerebellar ataxia. Yana taso daga sauka a hankali degeneration na juyayi tsarin Kwayoyin. The inji rauni ne cewa daga cikin mutant gene ba a cikin chromosome 9, jiki daina samar da abu - frataxin. Saboda haka, Kwayoyin tara wani ƙara adadin na baƙin ƙarfe. Wannan triggers da wadannan pathological tsari - jari na free radicals da kuma sia peroxidation. A sakamakon haka ne a halakar cell membranes da kuma juyayi nama. Mafi sau da yawa, wannan tsari rinjayar da na baya Kakakin na laka da pyramidal tsarin. Wadannan Tsarin ke da alhakin mota aiki na jiki, don haka akwai daidaituwa cuta. A wasu lokuta, da abin ya shafa da kuma sauran kwakwalwa Tsarin: gaban ƙaho, na gefe fiber CNS. More sau da yawa fiye da ba shi yalwaci degeneration girman kwanyar jijiyoyi da m cibiyoyin (numfashi, jijiyoyin bugun gini). A rare lokuta, akwai disturbances na hangen nesa da kuma ji.

Bugu da kari ga neurological cututtuka, akwai canje-canje da kwarangwal tsarin. Sau da yawa a cikin marasa lafiya da Friedreich ta ataxia an kiyaye anomaly curvature daga cikin kashin baya, da ƙafãfunsu deformity. Bugu da kari, da pathological tsari na kama da zuciya tsoka. A wannan yanayin, al'ada cardiomyocytes an maye gurbinsu da fibrous da m nama.

The asibiti hoto da cutar

A kan tushen da pathogenesis da cutar, da na asibiti hoto dogara a kan irin nisan da shan kashi na kwakwalwa da kuma laka Tsarin. Ataxia ciwo ne na hali. Amma a wasu lokuta, akwai wasu take hakki. Idan cutar da ake bincikar lafiya Friedreich ta ataxia, pathological cututtuka su ne wadannan:

1. Cerebellar ataxia. Wannan ciwo bayyana a cikin marasa lafiya na game da shekaru 20. Its main cututtuka - canje-canje na Gait, unsteadiness, nystagmus. Neurological jarrabawa, marasa lafiya ba zai iya yi da calcaneal-gwiwa gwajin da Romberg m matsayi.
2. Murdede hypotonia. Tare da wani canji a Gait, akwai wani m rauni a kafafu. Daga baya, kan aiwatar da ke a da babba jiki tsokoki. Marasa lafiya wuya rike da reshe a matsayi. Wannan take kaiwa zuwa wani rauni daga cikin gidajen abinci da kuma mahaukaci reshe tsawo ( "dakatar Friedreich ta ataxia"). A wasu marasa lafiya, akwai akasin sabon abu - tsoka spasm, paresis.
3. Hyperkinesis. Saboda halakar da pyramidal tsarin na kwakwalwa a marasa lafiya tare da Friedreich ta ataxia cuta lura shugaban tsãwa da reshe. Akwai iya zama wani take hakkin mimicry - tics.
4. Take hakki na ƙasũsuwa da gidajen abinci. Marasa lafiya sau da yawa sami scoliosis da kuma sauran kashin baya curvature. Saboda "looseness" daga cikin ƙananan reshe gidajen abinci na faruwa halayyar da Pathology da kafar deformity. A wannan yanayin, Munã rage ta zurfafa, da kuma proximal phalanx da ake jũya daga.
5. A hankali a hankali ne akan rage agara reflexes.
6. Canza rubutun hannu.
7. Hypertrophic cardiomyopathy. Wannan ciwo ya auku a kusan dukan marasa lafiya (90%). Asibiti shi ne bayyana wani nauyi zuciya sauti a kan auscultation, ta ƙara zuciya size da kuma bayyanar systolic gunaguni. A wannan yanayin, mutum tanã kai ƙãra na jin zafi a kirji yankin, shortness na numfashi.

Kadan na kowa bayyanar cututtuka sun hada da ji na ƙwarai cuta ophthalmoplegia, ptosis. Wani lokaci degenerative matakai unsa auditory da na gani jijiya. Kamar wancan akwai wani raguwa a ji, da makanta.

Bincike da sharudda ga Friedreich ta ataxia

Ake zargi da laifi cuta Friedreich ta ataxia ba ma wuya ga wani gogaggen neurologist. Da farko likita yana biya da hankali ga gaskiyar cewa keta fara a wasu shekaru. Yawancin lokaci a cikin shimfiɗar jariri, da kuma samartaka gunaguni ne gaba daya fakowa ba. Bugu da kari, a lokacin anamnesis sau da yawa wani mahada tsakanin cutar da kuma hereditary dalilai (aure tsakanin dangi, ataxia wani a cikin iyali). Idan samu Friedreich ta ataxia cuta, ganewar asali da wani neurologist zai faru kamar haka (maki cewa kusantar da hankali ga likita):

1. Muscle rauni (mafi sau da yawa a cikin ƙananan wata gabar jiki).
2. Rage agara reflexes.
3. A precarious wuri a cikin Romberg.
4. Takamaiman nystagmus.
5. Rashin yi calcaneal-gwiwa gwajin.
6. Paresis kuma inna (m).
7. Hyperkinesis.

Bugu da kari, Likita ake bukata Viewing. A likita kayyade cuta da ƙasũsuwa da gidajen abinci na ƙananan wata gabar jiki, curvature daga cikin kashin baya. Lokacin da Pathology ana zargin, kuma bukatar dubawa ophthalmologist da kuma likitan zuciyar.

Ainihin hanyar da diagnosing a kayyade analysis, a lokacin da ya nuna chromosomal anomaly. Har ila yau gudanar da wani kwakwalwa MRI.

Friedreich ta ataxia cuta: code a ICD 10

A duk da na asibiti ganewar asali, da Pathology na kowane ya kamata a rubuta bisa ga kasa da kasa da nomenclature. Friedreich ta ataxia cuta ICD-10 code G11.1 ya aikata. Wannan yana nufin cewa, bisa ga kasa da kasa sikelin, wannan Pathology yana da wadannan suna: farkon cerebellar ataxia.

Friedreich ta ataxia cuta: magani daga cuta

Duk da cewa ilimin tsarin jijiyoyi a matsayin kimiyya yanzu fairly da raya, wannan cuta ba za a iya warke gaba daya. Wannan shi ne saboda da cewa shi ne ya sa ta a kayyade maye gurbi, wanda ba za a iya shafa. Duk da haka, likitoci yi wani gyara na neurological cuta, don yin rayuwa sauki ga marasa lafiya. Antioxidants ake amfani (miyagun ƙwayoyi "Meksidol"), yana nufin don inganta cerebral wurare dabam dabam ( "Piracetam" kwayoyi "Cere"). Wadannan kwayoyi na iya rage da degenerative tafiyar matakai. Don inganta mota aiki yi physiotherapy, orthopedic gyara, tausa. A wasu lokuta, m magani (tare da gagarumin curvature tasha).

Rigakafin cutar da kuma rikitarwa

Abin baƙin ciki, ba shi yiwuwa a hango ci gaban Friedreich ta ataxia cuta. Duk da haka, da Pathology ba sosai rare anomaly. Saboda haka, a lokacin da iyali tarihi likita tarihi na mata masu ciki da bukatar a gudanar da wani kayyade bincike da tayin.

Don hana ci gaban da rikitarwa a marasa lafiya tare da Friedreich ta ataxia cuta, na bukatar m dubawa na likitoci. Duk da cewa da warwarewarsu da dangantaka da neurological matsaloli, da kuma shi ne mai muhimmanci don tsayar da likita, likitan zuciyar, ophthalmologist da jini. Don kauce wa m ci gaban da cuta ne taimaka far. Har ila yau, marasa lafiya bukatar a kula na musamman da kuma goyon bayan masõyansa.

A hangen nesa na cuta, Friedreich ta ataxia

Ganin cewa a cikin Pathology alaka a sannu a hankali m chromosomal munanan, marasa lafiya rayuwa da matsakaita na 30-40 shekaru. Mafi sau da yawa, neurological cuta ba zai shafi iyawarsa ta tunani da kuma m kwakwalwa Tsarin. Duk da haka, marasa lafiya bukatar m likita dubawa. Har ila yau, marasa lafiya dole ne magance jiki far don kula da tsoka sautin. Mafi na kowa hanyar mutuwa ne cuta na zuciya da jijiyoyin jini tsarin. Hypertrophic cardiomyopathy da shekaru take kaiwa zuwa congestive zuciya rashin cin nasara, da sakamakon wanda ya zama Friedreich ta ataxia cuta. Photo da marasa lafiya tare da wannan Pathology za a iya gani a cikin wannan labarin, da kuma wallafe-wallafe.