
kendranaliya myopathy

centronuclear myopathy (see. aine. aim.) janmajaat myopathy kaa ack samooh haye jahan koshika naabhik asamanya roop seey manspeshi koshikaon key kendra mein sthit hotey hain bajaay unake samanya sthaan key.
see. aine. aim. key lakshnon mein gambhir hypotonia, hypoxia-aavashyak shwas sahaayata aur scaphocephaly shamil hain. kendra-paramanu myopathy mein, aiks-linked myotubular myopathy roop aamtaur parr janm key samay prastut hotaa haye, aur iss prakaar ise janmajaat myopathy maanaa jaataa haye. haalaanki, kuchh kendra-paramanu myopathy jeevan mein baad mein upasthit hoe sakate hain.
prastuti.
anya myopathy kii tarah, aim. tii. aim./see. aine. aim. kii naidaanik abhivyaktiyaan vishesh roop seey maanspeshiyon kii kamjori aur sambandhit akshamataaen hain. janmajaat roop aksar navjat nimn maanspeshiyon key swar, gambhir kamjori, vilambit vikasatmak meal key patthar (vishesh roop seey sakal motor meal key patthar jaise sir niyantran, rengna aur chalana) aur fuffusiya jatilataon (sambhavatah shwasan key liye jimmedaar maanspeshiyon kii kamjori key kaaran) key saath maujood hotey hain. chehare kii maanspeshiyon kii bhagidari netra roga yaa tossis kaa kaaran bunn sakati haye. aar. aaee. aar. 1 jeane mein ack utparivartan joe see. aine. aim. kaa kaaran banata haye, ghaatak atistheeran key prati samvedansheelta kaa kaaran bhee bunn sakata haye, joe sangyaaharan key liye sambhaavit roop seey jeevan key liye khatra haye. jabaki kuchh rogi joe kendra-paramanu myopathy seey peedit hain, apane vayask jeevan bhar ambulatory rahate hain, anya kabhi bhee rengna yaa chalana naheen curr sakate hain aur unhein gatishilata key liye wheelchair key upayog kii aavashyakta hoe sakati haye. vibhinn kendra-paramanu mayopaithiyon mein karyatmak haani kii matra mein paryaapt parivartansheelta haye. haalaanki yeh sthiti kewal swaichhik maanspeshiyon koo prabhaavit karati haye, kaee bachchon koo hriday gati rook gaee haye, sambhavatah hriday parr atirikt tanaav key kaaran.
anya dekhi gaee visheshtaon mein uchch dhanushakar taaloo, lambe ank, ghanti key aakar kii chhaati aur lamba chehra shamil hain. myotubular myopathy kewal maanspeshiyon koo prabhaavit karati haye aur kissy bhee aakar yaa roop mein buddhi koo prabhaavit naheen karati haye.
aiks-linked maayo tubeler myopathy paaramparik roop seey bachpan kii ack ghaatak sthiti thee, jisamen jeevan pratyasha aamtaur parr dou saal seey cumm hoti thee. usee aim. tii. aim. 1 jeane mein vibhinn aanuvanshik asaamaanyataon key liye naidaanik gambhirta mein paryaapt parivartansheelta dikhaai detee haye. isake alawa, prakaashit mamle aim. tii. aim. 1 jeane mein samaan aanuvanshik asamanyata vaale rishtedaron key beach naidaanik gambhirta mein mahatvapurna antar dikhaate hain. aim. tii. aim. 1 key adhikansh kaatane vaale utparivartan ack gambhir aur praarambhik ghaatak phenotype kaa kaaran banate hain, jabaki kuchh missense utparivartan halke roopon aur lambe samay taka jeevit rahane (54 varsh taka) seey judey hotey hain.
kendra-paramanu mayopaithiyon mein aamtaur parr ack halki prastuti aur ack behtar purvanuman hotaa haye. autosomal pramukh see. aine. aim. mein autosomal aprabhaavi sanskaran kii tulanaa mein cumm gambhir phenotype hotaa haye. haal hii mein, shodhkartaon ney jeane dynamine 2 (gunasutra 19 parr dnm 2, site 19p13.2 parr) mein utparivartan kii khoj kii, joe kendra-paramanu myopathy key autosomal pramukh roop key liye jimmedaar haye. iss sthiti koo abb diamine 2 centronuclear myopathy (sankshipt mein dnm2-cnm) key roop mein jaanaa jaataa haye. shodh ney sanket diyaa haye kii dee. aine. aim. 2-see. aine. aim. vaale rogiyon mein dheere-dheere pragatisheel maanspeshiyon kii kamjori hoti haye joe aamtaur parr kishoravastha yaa praarambhik vayaskata mein shuru hoti haye, jisaki ayu 12 seey 74 varsh kii hoti haye.
aanuvanshik.
myotubular myopathy (aiks. ell. aim. tii. aim.) key aiks-linked roop seey judee aanuvanshik asamanyata koo pahali baar 1990 mein site xq28 parr aiks gunasutra mein sthaaniyakrit kiya gayaa thaa. myotubularine protein key liye aim. tii. aim. 1 code, joe cellular parivahan, taskari aur signalling mein shamil ack atyadhik sanrakshit lipid phosphat haye. maanspeshiyon kii biopsy dwara nidan kiye gaye myotubular myopathy vaale lagbhag 80 pratishat purushon mein aim. tii. aim. 1 mein utparivartan hotey hain, aur inmein seey lagbhag 7 pratishat utparivartan aanuvanshik vilopan hotey hain.
kendra-paramanu myopathy jahan aanuvanshik asamanyata ling-sambandhit naheen haye (ee.jee.x gunasutra parr sthit naheen) koo autosomal maanaa jaataa haye. autosomal asaamaanyataaen yaa tou pramukh yaa aprabhaavi hoe sakati hain, aur aksar "autosomal dominant" key liye vigyaapan key roop mein sandarbhit kii jaati hain yaa "autosomal aprabhaavi" key liye ar).
kaee shodhkarta "myotubular myopathy" (aim. tii. aim.) shabd kaa upayog kewal una mamalon key liye karate hain jaba aanuvanshik pareekshan aiks gunasutra parr aim. tii. aim. 1 jeane mein asaamaanyataon (aanuvanshik utparivartan) key liye sakaratmak vaapas aaa gayaa haye. manspeshi biopsy parr ack kendrak paramanu (kendra mein naabhik) upasthiti vaale mamalon koo, lekin aim. tii. aim. 1 key liye ack samanya aanuvanshik pareekshan koo kendrak naabhikiya myopathy key roop mein sandarbhit kiya jaayega, jaba taka kii ack vishisht aanuvanshik sthal kii pehchaan adhik vistrit upa-vargeekaran dene key liye naheen kii jaati haye.
myotubular myopathy kii viraasat key sambhaavit sanyojan iss prakaar hainh
chhitput mamle bhee darj kiye gaye hain jahaan koee pichla parivarik itihas naheen haye (yeye mamle sambhavatah ack nae utparivartan key kaaran hain joe donon maataa-pitaa mein maujood naheen thaa).
pathology.
maanspeshiyon kii biopsy samagri kii jaanch parr, paramanu samagri mukhya roop seey maanspeshiyon kii koshikaon key kendra mein sthit hoti haye, aur ise kissy bhee "myotubular" yaa "centronuclear" upasthiti key roop mein varnit kiya jaataa haye. maanspeshiyon kii biopsy kaa varnan karane key sandarbh mein, "myotubular" yaa "centronuclear" lagbhag paryaayavaachi hain, aur donon shabd aim. tii. aim. aur see. aine. aim. key beach samaan cellular-upasthiti kii or ishara karate hain. iss prakaar, rogvigyaani aur upchaar karane vaale chikitsak una shabdon kaa upayog lagbhag ack dusare key sthaan parr karate hain, halanki shodhkarta aur chikitsak una vakyanshon key beach teji seey antar curr rahey hain.
samanya taur parr, ack naidaanik myopathy aur ack snaayu biopsy joe ack kendrak paramanu (manspeshi koshika key kendra mein kendrak) upasthiti dikhaati haye, ack kendrak paramanu myopathy (see. aine. aim.) kaa sanket degi. sabse adhik nidan kiya jaane vaalaa see. aine. aim. myotubular myopathy (aim. tii. aim.) haye. haalaanki, akele maanspeshiyon key biopsy vishleshan seey myotubular myopathy koo anya prakaar key centronuclear myopathy seey vishvasaniya roop seey alag naheen kiya jaa sakata haye, aur iss prakaar aanuvanshik pareekshan kii aavashyakta hoti haye. naidaanik kaary koo aksar ack upchaar karane vaale tantrika vigyaani dwara samanvit kiya jaataa haye. sanyukt raajya america mein, dekhbhal aksar muscular dystrophy association seey sambaddh kleenikon key madhyam seey samanvit kii jaati haye.
nidan.
vidyut nidan pareekshan.
vidyut-nidan pareekshan (jise electrophysiologic bhee kahaa jaataa haye) mein tantrika chaalan adhyayan shamil hain jisamen ack paridhiya motor yaa samvedi tantrika koo uttejit karna aur pratikriya koo record karna shamil haye, aur suee electromyography, jahaan asamanya vidyut gatividhi koo dekhane key liye maanspeshiyon key ootak mein ack patali suee yaa pinn jaise electrode daala jaataa haye.
vidyut nidan pareekshan myopathy koo neuropathy seey alag karane mein madad curr sakata haye, joe aage key kaary-crum koo nirdhaarit karane mein madad curr sakata haye. myopathy mein dekhi jaane vaali adhikansh vidyut nidan sambandhi asaamaanyataaen tantrika rogon (tantrika vikaar) mein bhee dekhi jaati hain. myopathy aur neuropathy key liye aam vidyut nidan sambandhi asaamaanyataon mein shamil hain; asamanya sahaj gatividhi (ee.jee., compan, sakaratmak tej laharen, aadi.) suee parr aur, motor pratikriyaon key chhote ayam yaugik maanspeshiyon kii kriya kshamata, yaa tantrika chaalan adhyayan key dauran see. aim. aeye. pee.. haalaanki, kaee tantrika roga samvedi tantrika adhyayan kii asaamaanyataon kaa kaaran banate hain, jabaki myopathy mein kewal samanya samvedi tantrikaon key saath maanspeshiyaan shamil hoti hain. suee parr neuropathy seey myopathy koo alag karane vaalaa sabse mahatvapurna kaarak motor ikai kaarravaai kshamata (muap) key aakar, aakar aur bharti pattern kaa saavdhaanipoorvak vishleshan haye.
vibhinn prakaar kii myopathy key vidyut nidan sambandhi nishkarshon key beach paryaapt ativyaapi haye. iss prakaar, vidyut nidan pareekshan neuropathy koo myopathy seey alag karane mein madad curr sakata haye, lekin yeh antar karane mein prabhaavi naheen haye kii kaun see vishisht myopathy maujood haye, yahaan maanspeshiyon kii biopsy aur shayed baad key aanuvanshik pareekshan kii aavashyakta haye.
upchaar.
vartamaan mein myotubular yaa centronuclear myopathy kaa koee ilaaj naheen haye. upchaar aksar karyatmak kshamataon koo adhikatam karane aur chikitsa jatilataon koo cumm karane kii koshish karane parr kendrit hotaa haye, aur shaaririk chikitsa aur punarvaas mein visheshagyata rakhane vaale chikitsakon aur shaaririk chikitsak aur vyaavsaayik chikitsak dwara bhagidari.
chikitsa prabandhan mein aam taur parr fuffusiya jatilataon koo rokane key prayaas shamil hotey hain, kyonki fefadon key sankraman una rogiyon mein ghaatak hoe sakate hain jinamen khaansi key madhyam seey sraav koo saaf karane key liye aavashyak maanspeshiyon kii taakat kii kamee hoti haye. khaansi mein sahaayata key liye chikitsa upkaran rogiyon koo saaf vayumarg banaae rakhane mein madad karate hain, shleshm nalikaon seey bachate hain aur trachostomy tubes kii aavashyakta seey bachate hain.
paarshvagoodh key liye nigrani bhee mahatvapurna haye, kyonki dhad kii maanspeshiyon kii kamjori reedh kii huddy key sanrekhan mein vichalan kaa kaaran bunn sakati haye, jisake parinamswarup shwasan kaary mein samjhauta hoe sakata haye. janmajaat myopathy vaale kaee rogiyon koo antatah scoleosis key shalya chikitsa upchaar kii aavashyakta hoe sakati haye.
mahamari vigyaan.
myotubular myopathy kii samagr ghatana 50,000 jeevit purush janmon mein seey 1 haye. anya kendra-paramanu myopathy kii ghatanaaen behad durlabh hain, duniya bhar mein kewal unnis parivaaron kii pehchaan see. aine. aim. key saath kii gaee haye. vartamaan mein lakshan una adhikansh logon seey hotey hain jinhen kewal ack chhadi seey laker chalane key frame taka, shaaririk gatishilata sahaayata jaise wheelchair aur stand aids parr poori nirbharta key saath chalane kii aavashyakta hoti haye, lekin yeh baad kii vividhata itani durlabh haye kii kewal dou mamle see. aine. aim. "samudaay" koo gyaat hain.
maanspeshiyon kii biopsy dwara myotubular myopathy key nidan vaale lagbhag 80 pratishat purushon mein aanuvanshik anukram vishleshan dwara pehchaane jaane yogya aim. tii. aim. 1 mein utparivartan hoga.
myotubular myopathy vaale kaee rogi aupchaarik nidan praapt karane seey pahale hii bachpan mein marr jaate hain. jaba sambhav hoe, tou navjat mrityu key baad bhee maanspeshiyon kii biopsy aur aanuvanshik pareekshan sahayak hoe sakate hain, kyonki naidaanik jaankaari parivaar niyojan aur aanuvanshik paramarsh key saath-saath kissy bhee rishtedaar key sateek nidan mein sahaayata curr sakati haye, jinake paas samaan aanuvanshik asamanyata bhee hoe sakati haye.
itihas.
1966 mein dow. spiro (newyork shahar key ack tantrika vigyaani) ney myopathy vaale ack ladke kii ack chikitsa report prakaashit kii, jisamen maanspeshiyon kii biopsy parr dikhaaya gayaa kii maanspeshiyon kii koshikaon key kendra snaayu koshikaon key kendra mein sthit they, bajaay unake samanya sthaan key.
paramanu upasthiti ney unhein bhroon vikas key "myotubular" charan key dauran kendra mein naabhik kii upasthiti kii yaad dilaa dee. iss prakaar, unhone "myotubular myopathy" shabd gadhaa. spiro ney anuman lagaaya kii ladke mein bhroon kii maanspeshiyon kaa vikas myotubular charan key dauran vriddhi giraftari key kaaran huaa thaa, jisase myopathy hui thee.
teen dashakon seey adhik samay baad, yeh poori tarah seey samajh mein naheen aaya haye kii kyaa bhroon kii maanspeshiyon key vikas key baare mein yeh siddhant sahee haye. kuchh shodhon seey pataa chalata haye kii yeh siddhant shishu-aarambh maayo tubeler myopathy (aiks gunasutra parr aim. tii. aim. 1 jeane mein utparivartan) key liye sweekarya hoe sakata haye, lekin kendra-paramanu myopathy key autosomal roopon key liye sweekarya naheen hoe sakata haye, jabaki anya shodhon seey pataa chalata haye kii vikas giraftari tantra aim. tii. aim. aur see. aine. aim. key sabhi roopon key liye jimmedaar hoe sakata haye.
chaahe myopathy "maayo tubeler" charan mein giraftari key kaaran hoe, aitihaasik karanon seey maayo tubeler myopathy naam banaa rahata haye aur vyaapak roop seey sweekaar kiya jaataa haye.
myotubular myopathy (aim. tii. aim.) shabd key sandarbh mein, jaba aiks gunasutra parr ack aanuvanshik asamanyata koo maanspeshiyon kii biopsy parr myotubular/centronuclear upasthiti vaale vyaktiyon key paryaapt pratishat mein shamil honey key liye nirdhaarit kiya gayaa thaa, tou shodhkartaon ney jeane khand koo aim. tii. aim. 1. naam diyaa. isi tarah, usa jeane dwara utpaadit protein koo aamtaur parr "myotubularin" kahaa jaataa haye.
vakaalat.
dekhbhal dishaanirdeshon parr nae prabhaavit parivaaron koo shikshit karane key liye kaee vaishvik vakaalat samooh milkar kaam curr rahey hain. joshua fraze foundation kendra-paramanu myopathy key liye dekhbhal dishaanirdeshon key liye ack vyaapak sansaadhan haye. sanyukt raajya america mein, janmajaat myopathy vaale bachche aksar praarambhik hastakshep karyakramon (ee. aaee. pee., janm seey laker 3 saal kii umr taka kii sevaaen pradaan karna) key madhyam seey chikitsa sevaaen praapt karate hain joe nivaas raajya dwara prashaasit hoti hain. bachche key 3 saal key honey key baad, sanghiya viklang vyakti shiksha adhiniyam key tahat vishesh shiksha sevaaen pradaan kii jaati hain (vichaar, jaba myopathy koo maanspeshiyon kii kamjori paida karane vaali sthitiyon key tahat vargeekrit kiya jaataa haye tou way paatr hotey hain). vichaar kaa uddeshya pratyek viklang chhaatr key cumm seey cumm pratibandhaatmak vatavaran (aadarsh roop seey gair-viklang sahpaathiyon key saath ekikrit) mein ack muft aur upayukt saarvajanik shiksha (aff. aeye. pee. ee.) praapt karane key adhikaaron kii raksha karna haye.
kendra-paramanu mayopaithiyon mein kankal kii maanspeshiyon mein rogvigyaan shamil hotaa haye, aamtaur parr mastishk kii bhagidari yaa sangyanatmak kamee key binaa. phir bhee, motor kii kamee (kamjori aur sambandhit haani) vyakti kii shaikshik pathyakram taka pahunch kii kshamata mein baadha daal sakati haye (jaise.jee.kitaaben uthaane yaa leey jaane mein kathinaaee, lekhan vaadyayantra koo pakadane mein kathinaaee, poore school key dinn sahansheelata mein kathinaaee aadi.). isake alawa, baar-baar shwasan sankraman key parinamswarup school key dinn chhoot sakate hain.
shabdawali.
halanki kendra-paramanu myopathy key sabhi roopon koo durlabh maanaa jaataa haye, see. aine. aim. kaa sabse aam roop myotubular myopathy (aim. tii. aim.) haye. ("centronuclear myopathy" aur "myotubular myopathy" shabdon koo kabhi-kabhi samaan maanaa jaataa haye.)
shaabdik roop seey, ack myopathy maanspeshiyon key ootak kii hii ack bimari haye. "maayo" shabd manspeshi shabd seey nikla haye aur "pathos" kaa arth haye roga. darjanon alag-alag myopathy hain, aur myopathy hii ekmatra aisee sthitiyaan naheen hain joe maanspeshiyon kii kamjori kaa kaaran bunn sakati hain. anya beemaariyaan kamjori kaa kaaran bunn sakati hain jaise kii maanspeshiyon key baahar key sthalon koo prabhaavit karane vaali chikitsa sthitiyaan, jisamen mastishk mein samasyaaen (jaise stroke, cerebral palsy, multiple sclerosis), yaa reedh kii huddy aur/yaa tantrika mein samasyaaen (jaise poliyo aur reedh kii huddy kii manspeshi kaa kshay) shamil hain.