Binciken Ƙarƙashin Ƙarƙashin Calablar Ataxia,
Bayani
Yayin da mutane ke magana akan labarun tauraron jini (SCA), suna magana ne game da wata ƙungiya na nakasar neurodegenerative da ke haifar da mummunan ciwo. Akwai fiye da nau'i-nau'i daban-daban iri na 35, wanda kowanne ya haifar da maye gurbi. Bugu da ƙari, sababbin siffofin ci gaba da ganowa.
Duk da yake akwai bambancin da yawa, SCA ba shakka ba ne mai kyau.
Duk da haka, yana daya daga cikin abubuwan da ke tattare da kwayoyin halitta na musamman. Ko da a tsakanin mutanen da ba su da tarihin iyali wadanda suke samar da hoto don babu wani dalili mai kyau, za'a iya samun sabon maye gurbin SCA kimanin kashi 20 cikin dari na lokaci.
Dalilin
SCA ne saboda maye gurbin kwayoyin halitta. Yawancin nau'i sune saboda abin da ake kira raya faduwa, wanda yawancin nucleotides (yawanci cytosine, adenosine, da guanine) suna maimaitawa fiye da wanda aka samo cikin mutanen lafiya. A cikin nau'i na al'ada wanda ya hada da nucleotides guda uku maimaita, ana kiran wannan maimaita trinucleotide. Sakamakon wannan maimaitawa ita ce, an bayyana irin nauyin gina jiki, wanda ke haifar da cutar bayyanar cututtuka.
Maganar Spinocerebellar tana da yawa gadon mulki a cikin wata hanya mai mahimmanci , ma'anar cewa idan daya daga cikin iyaye yana da wannan cuta, akwai kimanin kashi 50 cikin dari na yaron zai sami cutar.
Kamar yadda sunan mai launi na hoto ya nuna cewa, cutar tana fama da cerebellum kuma mafi.
Kwajin kwakwalwa zai iya ɓacewa (atrophy), musamman ma a cikin SCA iri 1, 2, da 7. Yankuna na atrophy sukan kula da motsi ido, yana haifar da binciken da ya faru a yayin da wani neurologist yayi nazari na jiki.
Faɗakarwa
Hotuna na Spinocerebellar saboda maimaita maye gurbin fadada yawanci yakan zama marasa lafiya a tsakiyar shekaru.
Bugu da ƙari, ataxia, wasu binciken binciken ne ba a halin yanzu ba dangane da bambancin SCA. Bugu da ƙari, mafi tsawo maimaitawa shine, ƙaramin mai haƙuri zai kasance lokacin da bayyanar cututtuka ta zo, kuma mafi saurin ci gaban cutar.
Bugu da ƙari, SCA type 1 ya fi zalunci fiye da iri 2 ko 3, kuma mai lamba 6 shine SCA mafi ƙanƙanci saboda rashin maimaita trinucleotide. Ba mu da bayanai mai yawa game da wasu nau'o'in hotunan spinocerebellar, amma mafi yawan mutane za su buƙaci da keken hannu 10 zuwa 15 bayan bayan bayyanar cututtuka. Duk da yake mafi yawan siffofin SCA sun rage girman kai, wannan ba koyaushe bane.
Jiyya
Babu magani ga SCA. Magunguna irin su zolpidem ko varenicline an ba da shawara don taimakawa hoto a SCA type 2 da 3 bi da bi.
Iri
SCA1
SCA1 yana haifar da kimanin kashi 3 zuwa 16 na magungunan da ke da iko da magunguna. Baya ga ataxia, SCA1 yana haɗi da wahalar magana da haɗi. Ƙarin ƙwaƙwalwar karuwanci ma na kowa ne. Wasu marasa lafiya suna ci gaba da ɓarke tsoka.
Sauyawa na SCA1 shine maimaita trinucleotide a cikin yanki da ake kira ataxin 1. Maɗaukakin siffar ataxin 1 yana cike tare a cikin kwayoyin halitta, kuma zai iya canza yadda kwayoyin jikinsu ke fassara fasalin halittar su. Wannan shi ne ainihin gaskiya a cikin sel na cerebellum.
SCA2
Kimanin kashi 6 zuwa 18 cikin dari na mutanen da ke dauke da kyamarar launin fata na SCA2. SCA 2 yana haifar da matsalolin daidaitawa amma yana haifar da motsi ido. A lokuta masu tsanani, SCA 2 na iya haifar da jinkiri, ci gaba, da wahalar haɗuwa har ma a jariri.
SCA2 yana haifar da wani trinucleotide maimaitawa, wannan lokaci yana canza furotin da ake kira ataxin 2. Ganin cewa SCA1 yana shafar kwayar halitta da DNA, SCA2 yana ganin zai shafi RNA kuma ya tattara a waje da tsakiya.
SCA2 ya nuna yadda mutane daban-daban zasu iya shawo kan alamun wariyar launin fata ko da suna da irin wannan canji. Iyalan Italiyanci tare da SCA2 sun sha wahala cikin lalacewar mutum, kuma iyalai daga Tunisia sun sha wahala da kuma dystonia .
SCA3
SCA3, wanda aka fi sani da cutar Machado-Yusufu , ita ce mafi yawan kamfanonin kamfanonin SCA, wanda ke da kashi 21 zuwa 23 bisa dari na SCA a Amurka. Baya ga ataxia, marasa lafiya tare da Machado-Yusufu suna da hanzari ido da ido da wahala. Hakanan yana iya faruwa, kamar yadda zai iya dysautonomia . A jarrabawar neurologist, marasa lafiya tare da SCA3 na iya samun cakuda na sama da ƙananan binciken motar da aka gano akan amyotrophic na gefe .
SCA 4 da 5
Waɗannan siffofin ba su da yawa kuma ba saboda trinucleotide maimaitawa ba. SCA4 na iya samun ƙananan ƙwararru , amma wannan gaskiya ne ga mafi yawan hotuna na spinocerebellar. SCA5 ba kusan sauran alamu ba fãce na ataxia. SCA5 tana kula da zama m da cigaba da sannu a hankali. Abin sha'awa shine, maye gurbi na farko ya kasance daga zuriyar kakannin Ibrahim Ibrahim Lincoln.
SCA6
SCA6 yana da asusun 15 zuwa 17 na SCA. Sauyawa yana cikin wani mahadar da ke hade da episodic ataxia da wasu nau'i na ƙaura. Baya ga ataxia, nau'in ido mai mahimmanci da aka sani da nystagmus na iya bayyana a binciken bincike na neuro.
SCA7
SCA7 kawai ya ƙunshi 2 zuwa 5 bisa dari na autosomal rinjaye spinocerebellar ataxias. Alamar cututtuka ta dogara ne akan shekarun mai haƙuri da kuma girman maimaitawa. Rashin hangen nesa yana wani lokacin dangantaka da SCA7. A cikin tsofaffi, wannan asarar hangen nesa zai iya zuwa kafin ataxia. Idan trinucleotide maimaita ta dadewa, asarar hangen nesa zai iya farawa da farko A cikin yara, haddasawa da cututtukan zuciya sun zo tare da hasara da kuma hangen nesa.
Saboda sauran alamomi na gizo-gizo suna da ban sha'awa, ba zan tattauna su ba dalla-dalla. Yawancin lokutan, alamar cututtuka suna da wuyar ganewa daga wasu SCAs da muka riga muka rufe, amma maye gurbi sun bambanta.
Alal misali, SCA8 yana son sauran SCA amma yana da banbanci a wannan maimakon abubuwa da ke ci gaba da muni da girma trinucleotide maimaitawa, matsalar kawai shine lokacin da akwai 80 zuwa 250 maimaitawa. Ƙari ko žasa ba ze haifar da matsala ba. SCA10 shine maimaita pentanucleotide maimaitawa maimakon maimaita trinucleotide. Wasu daga cikin wannan cuta, irin su SCA25, an bayyana su a cikin iyali ɗaya.
Sauran Hotuna na Hotuna
Kodayake siffar spinocerebellar ataxia ba abu ba ne, yana da mahimmanci ga masu bincike da marasa lafiya suyi la'akari da wannan ganewar idan akwai tarihin iyali na rikici. Wani ganewar asali na SCA na iya zama muhimmiyar ma'anar ba kawai don mutumin nan da nan ba, amma ga iyalinsu duka.
Sources
Geschwind DH, Perlman S, Figueroa CP, et al. Halin da ake yi da ƙwayoyin maganin da ke cikin suturar kewayo irin ta 2 trinucleotide maimaitawa a cikin marasa lafiya tare da autosomal rinjaye na cinxin ataxia. Am J Hum Genet 1997; 60: 842.
Mosesley ML, Benzow KA, Schut LJ, et al. Abinda ke haifar da zane-zane da kuma Friedreich sau uku ya sake maimaita daga cikin iyalai 361 na ataxia. Binciken Halitta 1998; 51: 1666.
Ranum LP, Lundgren JK, Schut LJ, et al. Halin cutar Spinocerebellar type 1 da Machado-Yusufu: cutar CAG ta haɗaka tsakanin marasa lafiya da fararen fata daga kananan yara 311 tare da mamaye, mahimmanci, ko kuma hoto maras kyau. Am J Hum Genet 1995; 57: 603.
Storey E, du Sart D, Shaw JH, et al. Kwanan lokaci na iri na 1, 2, 3, 6, da 7 a cikin marasa lafiya Australiya tare da alaxia na spinocerebellar. Am J Med Genet 2000; 95: 351.