dopamine-pratikriyaasheel dystonia

dopamine-responsive dystonia (dee. aar. dee.) jise segawa syndrome (aiss. aiss.) key roop mein bhee jaanaa jaataa haye, ack aanuvanshik andolan vikaar haye joe aamtaur parr lagbhag 5-8 varsh kii ayu (parivartansheel praarambhik ayu) mein bachpan key dauran prakat hotaa haye.
vishisht lakshan maanspeshiyon kii tone mein vriddhi (dystonia, jaise clubfoot) aur parkinsonian visheshataaen hain, joe aamtaur parr subah yaa aaraam key baad anupasthit hoti hain, lekin dinn key dauran aur parishram key saath bigadati hain. dopamine-pratikriyaasheel dystonia vaale bachchon koo aksar mastishk pakshaghat honey key roop mein galat nidan kiya jaataa haye. yeh vikaar levodopa key saath upchaar key liye achchi pratikriya detaa haye.
sanket aur lakshan.
roga aamtaur parr ack anga mein shuru hotaa haye, aamtaur parr ack pair. pragatisheel dystonia key parinamswarup clubfoot aur tipto walking hoti haye. lakshan 18 varsh kii ayu key aspas chaaron angon mein fail sakate hain, jisake baad pragati dheemi hoe jaati haye aur antatah lakshan ack pathaar taka pahunch jaate hain. vikasatmak meal key patthar (motor aur mansik kaushal donon) mein pratigaman hoe sakata haye aur upchaar key abhaav mein phalane-phoolane mein viphalata hoe sakati haye.
isake alawa, dopamine-pratikriyaasheel dystonia aamtaur parr parkincensism key sanketon dwara chihnit kiya jaataa haye joe apekshaakrit sookshm hoe sakate hain. iss tarah key sanketon mein gati kii dheemi gati (bradykinesia), compan, kathorta aur andolan key prati pratirodh (kathorta), santulan kii kathinaaiyaan aur mudra asthirta shamil hoe sakati hain. lagbhag 25 pratishat mein asamanya roop seey atiranjit prativart pratikriyaaen (hyperriflexia) bhee hoti hain, vishesh roop seey pairon mein. inn lakshnon key parinamswarup parkinsons roga key samaan prastuti hoe sakati haye.
kaee rogi neend key saath sudhaar kaa anubhav karate hain, subah apekshaakrit lakshnon seey mukt hotey hain, aur dinn badhane key saath teji seey gambhir lakshan vikasit karate hain (i.ee., dainik utaar-chadhaav). tadnusar, iss vikaar koo kabhi-kabhi "dainik utaar-chadhaav key saath pragatisheel vanshaanugat dystonia" key roop mein sandarbhit kiya gayaa haye."phir bhee dopamine-pratikriyaasheel dystonia vaale kuchh loga iss tarah key dainik utaar-chadhaav kaa anubhav naheen karate hain, jisase kaee shodhkarta anya roga shabdon koo pasand karate hain.
aanuvanshiki.
roga key autosomal pramukh aur autosomal aprabhaavi roopon kii soochana dee gaee haye. paanch jeane mein utparivartan dopamine-pratikriyaasheel dystonia kaa kaaran banate hue dikhaae gaye hain. 2021 mein prakaashit ack sameeksha key anusaar, yeye utparivartan nimnalikhit sthitiyon seey judey hainh
neurotransmitter dopamine, ell-dopa key agradoot koo tyrosine hydroxylase enzyme dwara tyrosine seey sanshleshit kiya jaataa haye aur ack coffector key roop mein tetrahydrobioterchitroptrictic tetrahydrobioterchitroptrictic kaa upayog kartaa haye. jeane jee. see. aich. 1 mein ack utparivartan, joe jee. tii. pee. cyclohydrolase aaee enzyme koo kootbaddh kartaa haye, bee. aich. 4 key utpaadan koo baadhit kartaa haye, jisase dopamine key star (hypodopaminergia) mein kamee aatee haye. yeh autosomal-pramukh sthiti dopamine-pratikriyaasheel dystonia kaa sabse adhik kaaran haye. tyrosine hydroxylase key liye jeane mein utparivartan seey tyrosine hydroxylase kii kamee hoe sakati haye, joe ack autosomal aprabhaavi tareeke seey viraasat mein praapt dopamine-uttardaayi dystonia kaa ack durlabh roop haye. negrostriatal maarg mein dopaminergic neurons kii gatividhi aam taur parr subah key dauran charam parr hoti haye aur 20 saal kii umr key baad taka umr key saath cumm hoe jaati haye, joe bataati haye kii dinn key dauran aur jeevan key teesare dashak taka badhati umr key saath lakshan kyon kharaab hoe jaate hain.
nidan.
sthiti kii durlabhata key kaaran, iska aksar galat nidan kiya jaataa haye, aksar mastishk pakshaghat key roop mein. isake parinamswarup rogi aksar binaa ilaaj key apane poore bachpan koo jee rahey hotey hain.
dopamine-pratikriyaasheel dystonia kaa nidan ack vishisht itihas, dopamine davaaon key pareekshan aur aanuvanshik pareekshan seey kiya jaa sakata haye. sabhi rogi jee. see. aich. 1 jeane (jee. tii. pee. cyclohydrolase aaee) mein utparivartan naheen dikhaate hain, joe aanuvanshik pareekshan koo apoorna banaata haye.
kabhi-kabhi biopterine aur neopterine kii sandrata koo maapane key liye ack cutty puncher kiya jaataa haye, joe dopamine-uttardaayi andolan vikaar key sateek roop koo nirdhaarit karane mein madad curr sakata haih praarambhik shuruat parkincensism (cumm biopterine aur samanya neopterine), jee. tii. pee. cyclohydrolase aaee kii kamee (donon cumm) aur tyrosine hydroxylase kii kamee (donon samanya).
lagbhag aadhe mamalon mein, ack phenylanine loading pareekshan kaa upayog amino acid phenylanine seey tyrosine mein cumm roopaantaran dikhaane key liye kiya jaa sakata haye. yeh prakriya saha-kaarak key roop mein bee. aich. 4 kaa upayog karati haye.
neend key adhyayan (polysomnography) key dauran, rame neend key dauran cumm hilna-hilna dekhaa jaa sakata haye.
mastishk key aim. aar. aaee. scan kaa upayog aisee sthitiyon koo dekhane key liye kiya jaa sakata haye joe dopamine-pratikriyaasheel dystonia kii nakal curr sakati hain (udaaharan key liye, besal ganglia mein dhaatu kaa jamaav willson kii bimari yaa pantothenate kinnez-sambandhit neurodegeneration kaa sanket dey sakata haye). positron utsarjan tomography (paltu jaanvaron key scan) kaa upayog karke mastishk kii paramanu imaging parkinsons roga mein cumm grahan key vipareet, dopamine-pratikriyaasheel dystonia mein ack samanya radiolabeld dopamine grahan dikhaati haye.
anya antar nidaanon mein chayapachaya vikaar (jaise jee. aim. 2 gangliosidosis, phenylcatonuria, hypothyroidism, leh roga) mukhya roop seey dystonic kishore parkinsonsism, autosomal recessive earley start parkinsonsism key saath dainik utaar-chadhaav, earley start idiopathic parkinsonsism, fokal dystonia, dystonia musculorum deformance aur hightle hernia key saath dyspeptic dystonia shamil hain.
upchaar.
dopamine-pratikriyaasheel dystonia vaale logon mein, lakshan aamtaur parr levodopa kii cumm khuraak key prashaasan key saath naatakiya roop seey sudhaar karate hain, joe emino acid phenylanine kaa ack jaiv rasayanik roop seey mahatvapurna chayapachaya haye, saath hii saath catecholamine dopamine, ack neurotransmitter kaa ack javic agradoot haye. (neurotransmitter praakritik roop seey utpaadit anu hotey hain jinhen akshatantu terminal kii or ack tantrika key neeche ack kriya kshamata key prasaar key baad alag kiya jaa sakata haye, joe badale mein neurons key beach synaptic junction koo paar curr sakata haye, jisase neurons vibhinn tarikon seey samvaad curr sakate hain.) cumm khuraak ell-dopa key parinamswarup aamtaur parr inn rogiyon key liye sabhi sambandhit lakshnon kaa lagbhag puuraa yaa poorna ulat jaataa haye. isake alawa, iss tarah kii chikitsa kii prabhavsheelta aamtaur parr lambi avadhi kii hoti haye, binaa una jatilataon key joe aksar parkinsons roga vaale logon key liye hoti hain joe ell-dopa upchaar seey gujarate hain. iss prakaar, adhikansh visheshagya ingit karate hain kii iss vikaar koo sabse uchit roop seey dope-pratikriyaasheel dystonia key roop mein jaanaa jaataa haye.
dopamine-pratikriyaasheel dystonia seey judee mrityu darr parr koee detta upalabdh naheen haye, lekin upchaar key saath paanchven dashak seey aage jeevit rahane vaale rogiyon kii soochana dee gaee haye. haalaanki, bimari key gambhir, praarambhik autosomal aprabhaavi roopon mein, rogiyon koo bachpan key dauran nidhan key liye jaanaa jaataa haye. ladakiyan kuchh adhik aam taur parr prabhaavit hoti prateet hoti hain. yeh bimari cumm aam taur parr yuvavastha key dauran yaa 20 saal kii umr key baad shuru hoti haye, aur bahut cumm hii, badey vayaskon mein mamle saamane aae hain.
aamtaur parr galat nidan honey key kaaran, bimari kaa anupachaarit rehna aam baat haye. jaba anupachaarit chhod diyaa jaataa haye, tou rogiyon koo aksar 21 saal kii umr taka akils kii tendon sergery kii aavashyakta hoti haye. unhein chalane key saath bhee sangharsh karna padegaa, ack aisee kshamata joe poore dinn cumm hoe jaayegi. bijli kii jhapaki upchaar naa kiye gaye rogiyon koo asthaayi raahat pradaan curr sakati haye. yeh vayaskata mein vikas koo bhee baadhit kartaa haye, santulan koo cumm kartaa haye aur pindley kii maanspeshiyon key vikas koo cumm kartaa haye. samajik roop seey, isake parinamswarup avasaad, samajik kaushal kii kamee aur rojgar khojane mein asamarthata hoe sakati haye.
mahamari vigyaan.
yeh sthiti bahut durlabh haye, joe 20 laakh mein seey kewal ack vyakti koo prabhaavit karati haye. yeh purushon kii tulanaa mein mahilaaon mein adhik aam haye. sanyukt raajya america mein kaee sou mamle hain, united kingdam mein 25 gyaat mamle hain, aur australia aur newzealand mein isase cumm mamle hain.
shodh karein.
upchaar key prati pratikriya parivartansheel haye aur deerghakaalik aur karyatmak parinam agyaat haye. mahamari vigyaan, genotype/phenotype sahsambandh aur inn beemariyon key parinam kii samajh mein sudhaar key liye ack aadhar pradaan karane key liye rogiyon key jeevan kii gunavatta parr unake prabhaav, aur naidaanik aur chikitsiya ranneetiyon kaa mulyankan karane key liye ack rogi registry kii sthaapana gair-vaanijyik antarrashtriya kaary samooh dwara tantrika sanchaarak seey sambandhit vikaaron parr kii gaee thee.
itihas.
iss bimari kaa naam dow. masaaya segawa, jinhone 1976 mein praarambhik naidaanik vivaran pradaan kiya.

