
x-linked vennemuka kandaraala ksheenata rakam 2

X-linked vennemuka kandaraala ksheenata rakam 2 (smacks 2, xlsma), arthrogriposis multiplexes congenita X-linked rakam 1 (AMCx1) anie kooda pilustaaru, idhi vennupamu yokka puurva kommulo motaru neuronla maranamtho kuudina arudaina naraala rugmata, dheeni phalitamgaa saadhaarana kandaraala vrudhaa (ksheenata) jarugutundi. eee vyaadhi "yuba1" janyuvulo utparivartana valla sambhavistundi mariyu vaahaka tallulu prabhaavita kumaarulaku ex-linked tirogamana paddhatiloo sankramistundi.
prabhaavita sisuvulaku saadhaarana kandaraala balaheenata, balaheenamaina edupu mariyu floppy avayavalu untaayi; tatphalitamgaa, eee paristhiti saadhaaranamgaa puttinapudu ledhaa antaku mundhe spashtamgaa kanipistundi. lakshanaalu marinta saadhaarana vennemuka kandaraala ksheenata (sma) yokka marinta teevramaina roopaalanu pooli untaayi; ayithe, smacks 2 vaerae janyu lopam valla sambhavistundi mariyu janyu pareeksha matrame vyaadhini sarigga gurtinchagaladu.
eee rugmata saadhaaranamgaa baalyamlo ledhaa baalyamlone pragatiseela swaasakosha vaiphalyam kaaranamgaa praanaantakam, ayinappatikee yuktavayassu varaku manugada nivedinchabadindi. aneka janyu rugmatala maadirigaane, smacks2కii telisina nivaarana ledhu. tagina upasamana samrakshana jeevana naanhyatanu penchagaladu mariyu jeevitakaalaanni podiginchagaladu.
sankethaalu mariyu lakshanaalu.
xl-sma anedi vennupaamulo puurva kommu kanaala nashtamtho teevramaina hypotonia mariyu arephlexia (i.ii., takkuva motor neuronlu). vyaadhi course smn1 yokka mutation valla kalige classic autosomal recessive sma yokka atyanta teevramaina roopaalalo maadirigaane untundih sma type 0 (sma0) mariyu sma type i (sma1). smaa0 loe, prasavapurva balaheenata prarambham mariyu garbhasaya kadalika sarigaa lekapovadam puttukatho vachhe sankochaalaku daariteestundi. sma1loe, motaru naipunyaalu aaru nelala vayassulopu taggutaayi; prabhaavita pillalu ennatikee swatantramgaa kurcholeru.
XL-SMA yokka balaheenata tarachugaa prasavapuurvamgaa praarambhamavutundi, idhi polyhydramnius mariyu garbhaasayamlo paelavamaina kadalikagaa vyaktamavutundi, idhi puttukatho vachhe sankochaalaku daariteestundi. antekakunda, xl-sma yokka balaheenata pragatiseelamainadi.
XL-SMA yokka telisina lakshanaala jabita krinda ivvabadindi
gamanikah eee krindi vaatini pradarsinche pillalaku ex-linked vennemuka kandaraala ksheenata rakam 2 yokka clinical rooga nirdhaarananu pariganinchaalih
janyusaastram.
x-linked vennemuka kandaraala ksheenata rakam 2 anedi x-linked tirogamana namoonaalo vaarasatvamgaa vastundi. eee rugmatato sambandham unna janyuvu, "yuba1", x chromosomelo xp11.3 vadda undhi mariyu 27 exanlanu kaligi untundi; antekakunda, anuvaadam rendava exon vadda praarambhamavutundi. purushulalo, x chromosomelo janyuvu yokka marchabadina coppy unte magavaariki eee rugmata untundi. streelalo, streeki eee rugmata undalante rendu x chromosomelapy janyuvu yokka utparivartana jaragaali. streelaku janyuvu yokka rendu maarina kaapeelu unde avakaasam ledhu kabatti, streela kante purushulu eee rugmatato chaalaa tarachugaa prabhaavitamavutaaru.
iteevali adhyayanam phalitamgaa UBA1 yokka exon 15loe moodu arudaina kotta vaividhyaalu eee vyaadhitho vaeru cheyabaddayi oka xlsma kutumbamlo (314370.0001,314370.0002) pratidaaniloo unde rendu missense utparivartanalu, mariyu maroka moodu sambandham laeni kutumbaalalo gurtinchabadina oka paryaayapadamaina sii-tuu-tii pratyaamnaayam (314370.0003). antekakunda, aarava kutumbamlo, rendu missense utparivartanalu ledhaa paryaayapada pratyaamnaayam gurtinchabadaledu. ramsar mariyu itarulu. (2008) paryaayapadamaina sii-tuu-tii pratyaamnaayam uba1 vyakteekarananu gananeeyamgaa tagginchadaaniki daariteestundani mariyu exon 15 yokka methylation namuunaanu maarustundani niroopinchindi, idhi maanavulalo abhivruddhi chendina uba1 vyakteekaranalo eee dna moolakam yokka aamodayogyamaina paatranu suuchistumdi. anduvalla, ubiquitin-proteosome maargamlo lopalatho sambandham unna aneka neurodegenerative rugmatalalo smacks2 okati. kaarana utparivartana rakamtho sambandham lekunda smacks 2 yokka teevrata taggadu.
rooga nirdhaarana.
rooga nirdhaaranaku daariteeyagala bhagalalo clinical lakshanaalu undatam, ksheenataku sambandhinchina aadharalu mariyu kutumba charitra vislaeshanha unnaayi. smacks 2 yokka oka mukhyamaina sanketam vennupamu mariyu medadu kaandam loe puurva kommu kanaalu kolpovadam. smacks 2 saadhaaranamgaa janyu pareeksha dwara nirdhaarinchabadutundi, idhi ubiquitin lanty modifier-activating enjaim 1 janyuvu ("uba1") loe utparivartananu chooputundi. XL-SMA yokka ksheenataku anugunamgaa unde ekaika janyuvu ayinanduna UBA1 janyuvu rooga nirdhaaranaku mukhyamainadi. baalyamlo ex-linked vennemuka kandaraala ksheenata nirdhaarananu parigananaloki teesukunetappudu eee krindi vaatini chudatam mukhyam.
eee lakshanaalu unna pillavadiki ex-linked vennemuka kandaraala ksheenata unde avakaasam undhi. dheenini dhruveekarinchadaaniki tadupari atyanta aacharanaatmaka charyalu
nirvahana.
ex-linked infantile vennemuka kandaraala ksheenata nirdhaarana taruvaata, smacks 2 kii prastutam telisina nivaarana lenanduna lakshanaalanu tagginchadaaniki roogi marinta madimpula dwara vellaalani sifaarsu cheyabadindi. sifaarsu cheyabadina madimpula rakalu poeshanha/aaharam mariyu swaasakosha paniteerulo vargeekarinchabaddaayi.
poeshakaahaaram mariyu aahara madimpu anedi eee krindi vaatini nirnayinchadampai drushti saaristundihi
swaasakosha muulyaankanaalu eee krindi vatiki upayoginchabadataayih
itara madimpulalo ippatike unna anubandhaalanu anchanaa veyadam, kandaraala tone anchanaa vaeyadaaniki mariyu sahayaka nirvahananu andinchadamlo sahaayapadataaniki naraala sambandhita madimpu mariyu janyu salahaadaaruto atyanta sifaarsu cheyabadina sampradimpulu unnaayi.
mottam chikitsa lakshanaalanu tagginchadam lakshyamgaa pettukundi mariyu yaantrika ventilation, feeding tube, gastrostomy mariyu keella chikitsa jokyalu undavacchu.
epidemiology.
ex-linked vennemuka kandaraala ksheenata rakam 2 arudaina rugmatagaa pariganinchabadutundi mariyu daani praabalyam teliyadu. prastutam, uttara america, eurup, mexico mariyu thailand antataa prabhaavita kutumba sabhyulatho 14 bahula taraala kutumbaalu matrame gurtinchabaddaayi.

