anga-cummer snayu vikrutee

limb-girdle muscular dystrophy (ell. jee. emm. dii.) haah durmil muscular dystrophincha anuvanshikdrushtya vijatiy gut aahe joou vaidyakeey vaishishtyancha sanch samayik karato. heey pragatishil snayu vaya jaane dware darshavile jaate jeey pramukhyane nitamb aanee khandyachya snayunvar parinam karate. ell. jee. emm. dii. madhye sahasa varshacha autosomal namuna asato. sadhya yavar konatahi dnyat upchar kinwa upchar nahee.
etch. emm. jee.-coa reductagevar reductagevar tyanchya prabhavamule, ell. jee. emm. dii. heey stattinsdware anuvanshikdrushtya sanvedanshil vyaktinmadhye uttejit kinwa bighadale jaau shakate. 
chinhe aanee lakshane.
vyakhyenusar, serve anga katibandh snayu dystrophymule (ell. jee. emm. dii.) pragatishil nikatvartiy kamjori hote, mhanje dhadavaril kinwa tyachya jawalil snayunche kamkuvatpana jeey kalantarane bighadte. spashtapane, ell. jee. emm. dii. haah nitamb katibandh, mandee, khandyacha katibandh aanee/kinwa varchya hatachya snayunvar pradhanyane parinam karato. snayuncha kamkuvatpana samanyatah samamiteey asato. sahasa, nitambache aavaran heey kamkuvatpana darshavinare pahile kshetra asate, jeey chalane, chalane chadhane aanee/kinwa khalee utarane, khurchivarun uthane, kambarekade vakane kinwa basane hii adchan mhanoon prakat hote. yaa adchaninmule varanvar padane houu shakate. khandyachya katibandhatil ashaktapanamule vastoo uchalane kinwa haat unch karane dekhil katheen kinwa ashakya houu shakate. pragaticha darr rugnannusar badalat rahato. akheris, dhavanyachi aanee chalanyachi kshamata bighadu shakate. kahee rugna halchal karat asale taree, haah rog samanyatah lakshan suru jhalyanantar kahee varshant vhilchearvar avalambun rahnyas karanibhoot tharato. akheris haah rog rog snayunsarkhya itar snayunvar parinam karoo shakato.
vyakhyenusar, ell. jee. emm. dii. pramukhyane hadanchya snayunvar parinam karatat, jaree nivadak upprakaranmadhye hriday snayu qamee pramanat prabhavit houu shakatat, jyamule dhaddhadane houu shakate
ell. jee. emm. dii. upprakaranmadhye aanee konatyahi dilelya ell. jee. emm. dii. upprakarat dekhil rogachi vaishishtye aanee tivratet lakshaniy badal houu shakatat. atirikt sambhavya sadarikarananmadhye heey samavisht aaheh
bahutek prakarananmadhye, ell. jee. emm. dii. saha vedna upasthit nasate aanee mansik karyavar parinam hott nahee. ell. jee. emm. dii. balpanat, paugandavasthet, tarun praudhatvat kinwa nantarhi suru houu shakate, suruvatiche vay samanyatah 10 teey 30 darmyan asate. donhi linganvar samaan parinam hoto. jevha balpanat anga-cummer snayu vikrutee suru hote, tevha pragati jalad asalyache aanee rog adhik aksham hott asalyache disate. jevha haah vikar paugandavasthet kinwa praudhavasthet suru hoto tevha haah rog samanyatah titka gambhir nasato aanee adhik haloohaloo vadhato. sadarikaranat konatihi sanvedanatmak majjatantuchikitsa kinwa swayatt kinwa aatadyansambandhichi karyapranali nasate.
anuvanshiki.
snayunchya karyat guntalelya prathinanchya anek anuvanshik utparivartananpaiki ekamule ell. jee. emm. dii. haah eka anuvanshik aanee aanuvanshik vikar aahe. sadhya olakhalya gelelya serve ell. jee. emm. dii. chaa varsa namuna prabhavi kinwa aprabhavi asato, jaree ell. jee. emm. dii. chee vyakhya adhik klisht varsa namune asalelya roganna ell. jee. emm. dii. mhanoon vargikrut karanyachi parvanagi dete. rogkarak utparivartan heey mukhytah coding kshetranmadhye asatat, parantu coding nasalele karak prakar dekhil nondavale gele. eurosiamadhye eurosiamadhye utparivartan heey ell. jee. emm. dii. chey sarvat samanya kaaran aahe, tathapi uttar europemadhye eff. keey. aar. pii. madheel utparivartan dekhil khoop samanya aahet. etch. emm. jee. qoo. aii. reductage homozygus utparivartanamule ell. jee. emm. dii. chaa eka prakar hoto joou collesterol sanshleshan margavar khalchya bajus asalelya chayapachay mevalonolactones upcharanna pratisad deu shakato.
nidan.
snayunchya bayopsidware avyav-cummer snayu vikrutiche nidan kele jaau shakate, jeey snayu vikrutichi upasthiti darshavel aanee rugnala konatya prakarcha snayu vikrutee aahe heey nirdharit karnyasathi anuvanshik chachani vaparali jaate. immunohystochemical dystrophine chachanya cyrcoglycanopathymadhy aadhalalelya dystrophinemadhye ghat darshavu shakatat. sarcoglycane kamataratechya babatit bhinnata asoo shakate (jarr α-sarcoglycane aanee γ-sarcoglycane astitvat nastil tarr lgmd2d madhye utparivartan hote).
2014 chya 'purava-aadharit margdarshak saranshah avyav-kamarband aanee distal dystrophies nidan aanee upchar' asey soochit karate qee varshane aalela vikar asalyacha sanshay asalelya vyaktinchi anuvanshik chachani jhaali pahije. itar chachanya/vishleshan khalilpramane aaheth
prakar.
ell. jee. emm. dii. dii". kutumb autosomal varchasva aahe aanee "ell. jee. emm. dii. aar". kutumb autosomal aprabhavi aahe. avyav-katibandh snayu vikrutiche varnan januk, sthan, omeem aanee prakar yaa sandarbhat khalilpramane kele aaheh
ell. jee. emm. dii. nikash.
rogachya ghatkala ell. jee. emm. dii. mhanoon vargikrut karnyasathi, khaleel nikashanchi purtata karane aavashyak aaheh
bhinn.
ell. jee. emm. dii. sarkhech anek rog prakat houu shakatat. dukene muscular dystrophy, bekar muscular dystrophy aanee mahila vahakanmadhye prakat honari dystrophenopathy yasah dystrophenopathy, ell. jee. emm. dii. pramanech disu shakatat. phasioscapulohumeral muscular dystrophy dekhil ashach prakare disu shakate, visheshtah jevha tee tee snayunna suut dete. emri-driffus snayu dystrophies, pompey rog, nantar suru honare janmajat mysthenic syndrome aanee nikatvarti-pramukh motor aanuvanshik neuropathy heey dekhil yaa vibhedanmadhye aahet.
upchar.
anga-cummer snayukshayasathi vyayamachya parinamkaraktechi pushti karnare kahee abhyas aahet. tathapi, abhyasatoon asey disun aale aahe qee vyayam, kharam tarr, tivra snayu aakunchanamule snayunna kayamche nuksan pohochavu shakato. snayunchi takad aanee sandhyanchi lavchikta shakya titaki rakhanyasathi sharirik upcharanchi aavashyakta asoo shakate. calliperscha vapar gatishilata aanee jivanacha darja rakhanyasathi keela jaau shakato. fuffus aanee hrudayachya aarogyakade kaljipurvak laksh dene aavashyak aahe, ell. jee. emm. dii. dii. vyaktinmadhye corticosteroids, kahee sudharana darshavtat. yavyatirikt, vyakti khaleel "vyavasthapan" chey anusaran karoo shakatatah
sarcoglycanopathy januk upcharpaddhatisathi kadachit anukool asoo shakatat.
purvasoochana.
avyav-kamarband snayu vikrutichya saumyatam swarupachya purvasuchanachya drushtine, prabhavit vyaktinmadhye snayu ball aanee karya jawaljawal samanya asate. ell. jee. emm. dii. haah samanyatah jivghena aajaar nahee, jaree too akheris hriday aanee shwasan snayu kamkuvat karoo shakato, jyamule aajaar houu shakato kinwa duyyam vikaranmule mrutyu houu shakato.
mahamarishastra.
eka gut mhanoon, avyav-kamarband snayu vikruticha kiman pradurbhav bahudha prati 100,000 (1:44,000 teey 1:10,000) madhye 2.27-10 paryant asato. dystrophenopathy, myotonic dystrophy aanee phasioscapulohumeral muscular dystrophenenter ell. jee. emm. dii. haah chautha sarvat samanya snayu vikar aahe. united statesmadhye abhyas kelyapramane, vaiyaktik ell. jee. emm. dii. chaa prasar, avarohi kramane, 1) calpain, 2) disferlin, 3) collegen vi, 4) sarcoglycanes, 5) anoctamine 5 aanee 6) fukutin-sambandhit prathinanchya utparivartanamule hoto. eurosiamadhye eurosiamadhye utparivartan heey ell. jee. emm. dii. chey sarvat samanya kaaran aahe, tathapi uttar europemadhye eff. keey. aar. pii. madheel utparivartan dekhil khoop samanya aahet. sansthapak prabhavamule pradeshanusar vividh pramanat pradurbhav hott asalyamule, sarvat samanya ell. jee. emm. dii. prakaranchya jagbharat prasar ganana karane katheen aahe. qamee samanya asalele prakar atishay durmil aahet, bahutekda keval varnan kelele jagatil maryadit pradesh aahet.
itihas.
limb girdle muscular dystrophy' haah shabd 1954 madhye prakashit jhaala, jyamadhye vividh prakarchya paristhitinchya eka gatache varnan kele gele, jeey doctoranna dukene muscular dystrophy, phasioscapulohumeral muscular dystrophy aanee myotonic dystrophypecsha vegale asalyache disale. ell. jee. emm. dii. chey janukiyashastra 1900 chya uttaradhat samajoon ghenyas suruvat jhaali, jyamule european neuromuscular centerne (aine. emm. see.) 1995 madhye ell. jee. emm. dii. chya vargikaranavar ekmat prasthapit kele. tyaa velee vargikaran yojanene autosomal dominant ell. jee. emm. dii. laa 'ell. jee. emm. dii. 1' aanee autosomal recessive ell. jee. emm. dii. laa 'ell. jee. emm. dii. 2' mhanoon soochit kele. karanatmak janukeey utparivartanachya shodhachya kramanusar ell. jee. emm. dii. chya navanshi eka patra jodale gele. ell. jee. emm. dii. dii. chee sthapana jhaali, tevha pudhil shodhalele ell. jee. emm. dii. 2. konatya patradvare niyukt karave assa prashna upasthit jhaala. yaa samsyesah, itar hetumbarobarach, aine. emm. see. neey 2017 madhye ell. jee. emm. dii. chya vargikaran aanee vyakhyevar naveen ekmat sthapit kele. naveen vyakhyesah, ell. jee. emm. dii. shrenitun anek rog kadhoon taknyat aaleh
sanshodhan.
anga-katibandh snayukshay yaa vividh prakaranvar laksh kendrit karnare vividh prakarche sanshodhan suru aahe. januk upcharpaddhati hii, jee anuvanshik samagri, bahudha nirogi janukachi prat, peshinmadhye pohochavane, hii, vishvasarh manalya manalya upcharpaddhatinpaiki eka aahe.
bengtson aanee itaranchya punravlokananusar. aii. aii. vhee.-madhyasth januk upcharpaddhatinchya (vividh vikaransathi) kahee yashamule sanshodhkanmadhye ruchi vadhali aahe, chrisper/cass 9 aanee exon-skipping yaa upcharatmak uddishtanna madat karatat. anga-katibaddha snayu dystrophyche anek vegvegale prakar asatat jeey vegvegalya januk utparivartananmule hotat. ell. jee. emm. dii. dii. haah α-sarcoglycan janukatil utparivartanamule hoto. punarsanyojit edeno-sambandhit vahakadvare januk upcharpaddhatidvare bhavishyatil upchar kele jaau shakatat.
strob, ityadichya punravlokananusar.anek sanshodhanvishayak samasya aahet, jyanche nirakaran karane aavashyak aaheh rogachi durmilata, ell. jee. emm. dii. aar. chya yantranechi kharab samaj aanee rugnachya samoohanchi anupasthiti, yaa sarvanmule ell. jee. emm. dii. sathee biomarkercha abhav nirman hoto. upcharatmak aushadhanche vishleshan karnyasathi ell. jee. emm. dii. aar. sathee pranyanchya namunyancha vapar keela gela aahe asey punaravalokanat pudhe mhatale aahe. tasech, jaree prednisonecha vapar keela gela asala aanee prabhavit ell. jee. emm. dii. 2 vyaktinvar tyache sakaratmak parinam jhaale asale, taree placibo-niyantrit chachanyanmadhye tyachya prabhavitecha adyap konatahi purava nahee.

