
multy system proteinpathy

multicystem proteinpathy (aim. aiss. pee.) manushyon kaa ack pramukh roop seey viraasat mein praapt, pleotropic, apakshayi vikaar haye joe maanspeshiyon, huddy aur/yaa kendriya tantrika tantra koo prabhaavit curr sakata haye. aim. aiss. pee. chikitsakiya roop seey shaastriya amyotrophic paarshv sclerosis (ells), frontotemporal dementia (aff. tii. dee.), shareer kii myopathy (aaee. bee. aim.), huddy kii puggets bimari (pee. dee. bee.), yaa inn vikaaron key sanyojan key roop mein prakat hoe sakata haye.
aitihaasik roop seey, kaee alag-alag naamon kaa upayog aim. aiss. pee. kaa varnan karane key liye kiya gayaa haye, aamtaur parr "praarambhik shuruat vaale pejat roga aur frontotemporal dementia (aaee. bee. aim. pee. aff. dee.) key saath boddy myopathy" yaa "frontotemporal dementia key saath boddy myopathy, huddy kii pejat kii bimari, aur amyotrophic lateral sclerosis (aaee. bee. aim. pee. aff. dee./ells.)."haalaanki, aaee. bee. aim. pee. aff. dee. aur aaee. bee. aim. pee. aff. dee./ells. koo abb purana vargeekaran maanaa jaataa haye aur inhen adhik thheek seey aim. aiss. pee. key roop mein sandarbhit kiya jaataa haye, kyonki yeh roga chikitsakiya roop seey visham haye aur iska phenotypic spectrum aaee. bee. aim., pee. dee. bee., aff. tii. dee. aur anya seey parey motor neuron roga, parkinsons roga kii visheshtaon aur attaxia visheshtaon koo shamil karane key liye faila huaa haye.
halanki aim. aiss. pee. durlabh haye, iss syndrome mein badhati ruchi aanvik antardrishti seey praapt hoti haye joe sthiti maanspeshiyon, huddy aur mastishk key samanya ayu-sambandhit apakshayi rogon key beach ateological sambandh mein pradaan karati haye.
sanket aur lakshan.
aim. aiss. pee. kii ack upayogi parichaalan paribhasha pramukh roop seey vanshaanugat apakshay haye jisamen doorasth myopathy yaa prishthiya huddy apakshay key sanyojan mein tantrika sambandhi bhagidari (yaa tou motor neuron roga yaa manobhransh) shamil haye. adhikansh aim. aiss. pee. rogi kamjori key saath upasthit hotey hain, aur inmein seey lagbhag 65 pratishat motor neuron kii bhagidari key saath upasthit hotey hain. halanki durlabh, aim. aiss. pee. mein hriday, yakrit, drishya, shravan, samvedi aur swaayatt pranaliyon kii bhagidari bhee shamil hoe sakati haye. aim. aiss. pee. seey prabhaavit ootakon key utakoshavigyaan mein aar. aine. aeye.-binding protein jaise tii. dee. pee.-43, aich. aine. aar. aine. pee. aeye. 1, aich. aine. aar. aine. pee. aeye. 2bee 1 aur aar. aine. aeye. kanikaon key anya ghatakon key sarvavyaapi-sakaratmak koshika-dravya samaveshan shamil hain.
aanuvanshiki.
aim. aiss. pee. ack pramukh roop seey viraasat mein millie aur aanuvanshik roop seey visham roga haye. aim. aiss. pee. kaa sabse aam aanuvanshik kaaran valocin yukt protein (vee. see. pee.) jeane koo prabhaavit karane vaalaa missense utparivartan haye, joe aim. aiss. pee. 1 () key roop mein jaane jaane vaale aim. aiss. pee. key ack upaprakaar kaa kaaran banata haye. anya rogjanak roopon kii pehchaan hnrnpa2bee1 aur hnrnpa1 mein kii gaee haye, joe kramshah msp2 () aur msp3 () kaa kaaran banate hain. aim. aiss. pee. seey judey atirikt jeane mein mattar3, opton aur pee62/aiss. kyu. aiss. tii. aim. 1 shamil hain.

