
ell1 syndrome

ell1 syndrome halke seey gambhir aiks-linked aprabhaavi vikaaron kaa ack samooh haye joe ack samanya aanuvanshik aadhar saajha kartaa haye. ell1 syndrome vikaaron key spectrum mein aiks-linked jatil corpus kolosam disgenesis, spastic paraplegia 1, maasaa syndrome aur sylvius (hsa) key jalmarg key stenosis key saath aiks-linked hydrocephalus shamil hain. ise ell1कaiiम syndrome (vikaar key karanatmak jeane key liye) aur crashes syndrome bhee kahaa jaataa haye, joe isaki praathamik naidaanik visheshtaon key liye ack sankshipt naam haih corpus kolosam hypoplasia, mandata (bauddhik akshamta), sanlagn angoothe, spesticity aur hydrocephalus.
ell1 syndrome "ell1cam" mein vibhinn roopon key kaaran hoe sakata haye, vaha jeane joe jaankaari pradaan kartaa haye joe shareer koo ell1 koshika asanjan anu (kabhi-kabhi ell1 protein kahaa jaataa haye) kaa utpaadan karane kii anumati detaa haye. ell1 koshika asanjan anu ack satah protein haye joe sabhi neurons kii satah parr paaya jaataa haye. yeh neurons koo ack dusare seey baandhane aur synapse banaane kii anumati detaa haye (connection jahaan jaankaari ack neuron key akshatantu seey dusare key dendrite aur koshika shareer mein paarit kii jaati haye). parinamswarup, ell1 koshika asanjan anu mastishk key sanrachanaatmak vikas key liye aavashyak haye aur sochane, chalane aur yaadon koo vikasit karane kii kshamata mein yogdan detaa haye. kissy vishesh vyakti mein ell1 syndrome kaa kaaran banane vaale "ell1cam" sanskaran kaa prakaar aur gambhirta seedhe lakshnon kii gambhirta aur karyatmak haani seey sambandhit haye joe way anubhav karate hain.
ell1 syndrome kaa koee ilaaj naheen haye, aur purvanuman aksar kharaab hotaa haye. ell1 syndrome vaale logon key liye jeevan pratyasha sthiti kii gambhirta key aadhar parr naatakiya roop seey bhinn hoe sakati haye, jisamen seey kuchh janm key turant baad marr jaate hain aur anya vayaskata taka pahunch jaate hain. ell1 syndrome vaale logon key liye upchaar sahayak haye aur iska uddeshya jeevan kii gunavatta mein sudhaar karna aur karyatmak haani koo cumm karna haye.
sanket aur lakshan.
ell1 syndrome halke seey laker gambhir visheshtaon taka key ack spectrum key roop mein prastut hotaa haye. ell1 spectrum mein ack genotype-phenotype sahsambandh haye, jiska arth haye kii ack rogi mein ell1-spectrum vikaar kaa kaaran banane vaalaa vishisht aanuvanshik sanskaran usa rogi mein ell1 syndrome kii gambhirta koo nirdhaarit kartaa haye. ell1कaiiम" mein kaatane (kaary-haani) vaale prakaron vaale rogi, joe ell1 (protein) key poorna sanshleshan koo rokte hain, "ell1cam" mein missense prakaron vaale rogiyon kii tulanaa mein adhik gambhir visheshtaon kaa anubhav karate hain, jisake parinamswarup ack asamanya protein hoe sakata haye lekin isake sanshleshan koo roque naheen sakate hain. ell1 syndrome kii gambhirta mein iss antar koo darshaate hue, sabse achchha upalabdh chikitsa upchaar key praavdhaan key bavjood, ack kaatane vaale utparivartan key kaaran ell1 syndrome key saath paida honey vaale 50 pratishat shishu 3 saal kii umr seey pahale marr jaayenge. tulanaa mein, missense utparivartan key kaaran ell1 syndrome key saath paida honey vaale lagbhag 10 pratishat shishu 3 saal kii umr seey pahale marr jaayenge.
nirantar spectrum parr isaki prastuti key bavjood, ell1 syndrome koo chaar asatat phenotype mein vibhajit kiya gayaa haye.
lakshnon parr adharit samajik prabhaav.
ell1 syndrome seey peedit loga aksar vikaar seey judee gambhir shaaririk aur mansik akshamtaon key kaaran samajik bhoomikaon aur baatchit key sambandh mein muddon kaa anubhav karate hain. yeye mudde ack vishisht vyakti mein prakat honey vaale lakshnon aur una lakshnon kii gambhirta key aadhar parr bhinn hoe sakate hain, joe antatah iss baat key aadhar parr nirdhaarit kiya jaataa haye kii vyakti ell1 syndrome spectrum parr kahaan sthit haye.
spesticity ell1 syndrome key sabse aam sanketon mein seey ack haye aur sabhi chaar pramukh naidaanik phenotype mein dekhaa jaataa haye. isaki visheshta kuchh maanspeshiyon key nirantar sankuchan key roop mein haye, jisase maanspeshiyon mein kathorta aatee haye joe samanya andolan aur vaani mein hastakshep curr sakati haye. teen pramukh phenotype (hsas koo chhodkar) mein, iss spasticity koo spastic paraplegia key roop mein prastut kiya jaataa haye, jahaan nichale angon kii maanspeshiyaan kathor hoti hain aur lagaatar sikudati rahati hain. yeh spastic paraplegia aksar ack chaal (chalane kii gati) vikaar key roop mein prakat hotaa haye, vishesh roop seey maasaa syndrome rogiyon mein chaal koo badal detaa haye, joe mudra asthirta key kaaran haani aur tanaav key srot key roop mein kaary kartaa haye, aur jeevan kii kharaab gunavatta aur mrityu darr mein vriddhi kii or leey jaataa haye.
afacia bhee ack samanya vikaar haye, vishesh roop seey maasaa syndrome (ell1 syndrome spectrum parr ack vikaar) vaale logon mein aur vakyavinyas (sanrachana), shabdarth (arth), dhvanyaatmak (dhwani), aakriti vigyaan (sanrachana), aur/yaa bhasha kii samajh yaa abhivyakti mein vyavharikta key sambandh mein bhasha kii haani kii ack shrinkhala kaa varnan kartaa haye. afacia vaale loga, saath hii unake parivaar key sadasya, aksar iss bhasha kii haani key kaaran samajik algaav aur avasaad key kaaran jeevan kii kharaab gunavatta kaa anubhav karate hain aur isaliye karyatmak aur samajik roop seey praasangik sanchaar koo saksham karane key liye chikitsa kii talash curr sakate hain. maasaa syndrome rogiyon mein afacia koo sambodhit karane key liye chikitsa sevaaon mein ack chikitsak, samooh chikitsa, yaa yahaan taka kii computer-adharit chikitsa key saath ack-seey-ack satra shamil hain, joe isaki pahunch koo dekhate hue adhik lokpriya hoe rahee haye.
bauddhik akshamataaen ell1 syndrome vaale logon key saamane aaney vaali samajik kathinaaiyon mein bhee yogdan detee hain, aur ell1 syndrome spectrum parr vyakti key sthaan key aadhar parr halke seey laker gambhir taka hoe sakati hain. halke bauddhik akshamta vaale logon mein aamtaur parr 50-70 key aspas ack iq hotaa haye (100 ausat haye) aur sabhi vikasatmak kshetron mein dheeme hotey hain, lekin unaki koee asamanya shaaririk visheshataaen naheen hoti hain aur way samajik roop seey mishrit honey mein saksham hotey hain. madhyam bauddhik akshamta visheshtaon mein anya logon key kuchh samarthan key saath aatm-dekhbhal banaae rakhane mein saksham honah, samudaay mein parichit sthaanon kii yatra karna, saral tarikon seey samvaad karna aur 35-50 key aspas ack iq honah shamil haye. gambhir bauddhik akshamta aksar aiks-linked hydrocephalus vaale logon mein sylvius (hsa) (ell1 syndrome parr) key jalmarg key stenosis key saath dekhi jaati haye aur isamen kaee pramukh visheshtaen hoti hain jinamen shamil hainh bolane kii kshamata lekin anyatha bahut seemit sanchaar kaushal honah; dainik dincharya aur saral aatm-dekhbhal seekhane kii kshamata, lekin samajik settings mein pratyaksh paryavekshan kii aavashyakta hoti haye aur ack paryavekshit ghar kii setting mein rahane key liye parivaar key samarthan kii aavashyakta hoti haye. bauddhik akshamta kii gambhirta key aadhar parr, ell1 syndrome vaale logon koo apane samajik vatavaran key anukool honey mein kathinaaee key vibhinn star honge aur unhein dinn-pratidin key karyon koo puuraa karane key liye dusaron seey kaafee samarthan kii aavashyakta hoe sakati haye.
sylvius key jalmarg key stenosis key saath aiks-linked hydrocephalus.
sylvius (aich. aiss. aeye. aiss.) key jalmarg key stenosis key saath aiks-linked hydrocephalus ell1 spectrum parr sabse gambhir phenotype haye aur mukhya roop seey apani pramukh visheshta key liye jaanaa jaataa haih gahan hydrocephalus, aamtaur parr janm seey pahale shuru hotaa haye. isaki prasavpurv shuruat key kaaran (i.ee. khopadi kii haddiyon key ack saath judane seey pahale), aich. aiss. aeye. aiss. key saath judey hydrocephalus key parinamswarup intracranial dabaav mein ullekhaniya vriddhi key kaaran pragatisheel macrocephaly (khopadi kaa asamanya vistaar) hotaa haye. hydrocephalus key sanket aur lakshan gambhirta aur shuruat kii umr key aadhar parr bhinn hoe sakate hain, halanki chidchidaapan (dard key kaaran) aur ulti iss sthiti vaale shishuon mein aam haye. upchaar key binaa, janmajaat hydrocephalus bachpan mein ghaatak hoe sakata haye. anupachaarit hydrocephalus key cumm gambhir mamalon mein, ack bachcha bachpan seey aage badh sakata haye, lekin aksar matali aur ulti, vikasatmak meal key patthar (shaaririk aur sangyanatmak/samajik donon), diplopia (dohri drishti), aur papillada (optic disk kii soojan) kaa anubhav kartaa haye joe nishchit upchaar koo roke jaane parr intracranial dabaav mein vriddhi key kaaran sthaayi drishti haani kii or badh sakata haye. ell1 koshika asanjan anu mein doshon key kaaran hydrocephalus aur kharaab tantrika vikas donon key kaaran honey vaali tantrika sambandhi kshati, aich. aiss. aeye. aiss. vaale lagbhag sabhi logon mein gambhir bauddhik akshamta kaa anubhav karati haye.
aich. aiss. aeye. key saath rahane vaale loga bhee aksar spasticity kaa anubhav karenge, ack aisee sthiti jisake kaaran kuchh maanspeshiyaan lagaatar sikudati rahati hain, jisase shareer mein kathorta aatee haye aur chalane aur bolane mein chunauti aatee haye. spasticity koo dainik jeevan kii gatividhiyon jaise snan aur snan, kapade pahanana aur swayam-bhojan karane mein kathinaaee kaa kaaran bhee maanaa jaataa haye.
aich. aiss. aeye. koo aksar kendriya tantrika tantra kaa ack alag vikaar maanaa jaane key bavjood, iska aanuvanshik aadhar bhee musculoskeletal doshon kaa kaaran banata haye jisake parinamswarup aadhe seey adhik purush aich. aiss. aeye. key saath angoothe pradarshit karate hain joe jode jaate hain (hatheliyon kii or pakade jaate hain, yaa ander laae jaate hain). vishesh roop seey, haath kii yeh asamanya prastuti extensor policis breevis aur/yaa extensor policis longus maanspeshiyon mein janmajaat vikritiyon key kaaran hoti haye.
maasaa syndrome.
maasaa syndrome kaa naam isaki chaar mukhya visheshtaon key naam parr rakhaa gayaa haih mansik mandata, anguthe koo pakadana (hatheliyon kii or yaa ander laaya gayaa), chaal koo hilana, aur afacia (ack bhasha akshamta joe bolane kii samajh aur utpaadan key saath-saath padhane aur likhane kii kshamata koo prabhaavit karati haye).
nidan.
ack swaasthya seva pradaata, aamtaur parr ack chikitsa aanuvanshikeevid (aanuvanshik vikaaron key nidan aur prabandhan mein vishesh prashikshan vaalaa ack chikitsak) ack rogi kii jaanch karke aur kuchh imaging adhyayanon kaa adesh dekar ell1 syndrome kaa naidaanik nidan pradaan curr sakata haye, halanki ell1 syndrome kii upasthiti kii pushti kewal tabhi kii jaa sakati haye jaba aanuvanshik pareekshan key madhyam seey ack aanvik nidan kiya gayaa hoe.
aksar, ell1 syndrome vaale vyakti key liye naidaanik odisi prasavpurv (unake janm seey pahale) shuru hoti haye jaba prasavpurv ultrasound gair-vishisht mastishk asaamaanyataon, nilay-gudaa, yaa ack gair-astitva yaa avikasit corpus kolosam koo prakat karate hain. sylvius (aich. aiss. aeye. aiss.) key jalmarg key stenosis key saath aiks-linked hydrocephalus vaale bhroon mein aamtaur parr hydrocephalus itna gambhir hotaa haye kii ise niyamit bhroon ultrasound parr 18-20 saptah key garbh key roop mein jaldi khoja jaa sakata haye. janm key baad, soochak visheshtaon (jaise macrocephaly) kii upasthiti mein, hydrocephalus kii pushti gair-aakramak imaging key saath kii jaa sakati haye jisamen haid magnetic resonance imaging, computed tomography, yaa ventriculomagaly dikhaane vaale ultrasound, yaa lumber puncher jaisi aakramak takneekon key madhyam seey intracranial dabaav kaa pratyaksh maap shamil haye. isake alawa, aich. aiss. aeye. key rogiyon mein paaee jaane vaali spasticity koo aasaani seey gahare tendon reflex aur extensor planter reflex (joe mastishk key prantstha aur aantarik capsule koo nuksan key kaaran asamanya roop seey tej aur majboot donon hoga) kii jaanch karke pradarshit kiya jaa sakata haye.
vibhinn prakaar key aanuvanshik pareekshan hain jinka upayog ack rogi mein ell1 syndrome nidan kii pushti karane key liye kiya jaa sakata haye. janm key baad, aanuvanshik parikshanon mein shaaririk jatilataon kaa cumm jokhim hotaa haye aur yeye cumm seey cumm dardanaak hotey hainh rogi key liye, iss prakriya key liye suee kaa upayog karke haath seey thodi matra mein rakt nikaalane kii aavashyakta hoti haye. haalaanki, prasavpurv aanuvanshik pareekshan bhroon aur maan donon key liye mahatvapurna jokhim rakhta haye kyonki bhroon seey aanuvanshik samagri koo hataane kii aavashyakta hoti haye jabaki yeh abhee bhee garbhashay mein hotaa haye. prasavpurv aanuvanshik pareekshan karane key liye, maan aur bhroon koo yaa tou amneocentasis (amneotic thaili kaa shalya chikitsa punchering, joe garbh mein bhroon koo dhaaran kartaa haye) yaa, cumm baar, choreonic vilas sampling seey gujarna chaahiye. amneocentasis amneotic drav kaa ack namuna pradaan kartaa haye jiska upayog anukram roopon yaa gunasutra roopon key liye screen karane key liye kiya jaa sakata haye, jabaki choreonic vilas namoone key madhyam seey praapt namoonon kaa upayog kewal pramukh gunasutra asaamaanyataon (jaise kii trisomy 21) kaa pataa lagaane key liye kiya jaa sakata haye, jisase choreonic vilas namoone koo nidan ell 1 syndrome (joe aksar anukram roopon key kaaran hotaa haye) key sandarbh mein cumm praasangik banaata haye. amneocentasis (aamtaur parr garbhavastha key 15 aur 18 saptah key beach kiya jaane vaalaa) mein maan aur bhroon key liye jatilataon kaa 1 pratishat jokhim hotaa haye, jisamen garbhpaat bhee shamil haye, jabaki choreonic vilas sampling (aamtaur parr garbhavastha key 10 aur 12 saptah key beach kiya jaane vaalaa) mein garbhpaat sahit jatilataon kaa 2 pratishat jokhim hotaa haye. sandigdh ell1 syndrome vaale bhroon koo leey jaane vaali maataaen aksar apane bachche key janm key baad cumm jokhim vaale aanuvanshik pareekshan koo aage badhaane key liye prateeksha karane key bajaay, isake jokhim key bavjood amneocentasis seey gujarane kaa vikalp chunati hain, kyonki prasavpurv naidaanik parinam garbhavastha koo samaapt karane key liye vichaaron koo soochit curr sakate hain.
kaee shaaririk asaamaanyataon key saath paida hue kissy bhee bachche key liye, pahali pankti kaa naidaanik pareekshan gunasutra sookshm-aarey haye.
prabandhan.
roga kii seema aur ell1 syndrome seey peedit vyakti kii aavashyak aavashyaktaon koo jaanane key liye, kuchh parikshanon kii sifarish kii jaati haye, jinamen shamil hainh haid imaging adhyayan, poorna tantrika sambandhi mulyankan, vikasatmak mulyankan, kabj kaa itihas honey parr hirschusprung roga key liye mulyankan, naidaanik aanuvanshikeevid aur/yaa aanuvanshik salaahkaar key saath paramarsh. ell1 syndrome kii abhivyaktiyon key uchit prabandhan mein ack bahu-vishayak (ack seey adhik chikitsa kshetron mein visheshagyata praapt ack team koo shamil karate hue) drishtikon shamil haye jisamen ack team shamil haih baal roga, baal tantrika vigyaan, tantrika shalya chikitsa, punarvaas aur naidaanik aanuvanshiki. maadhyamik jatilataon koo rokane key liye (joe sthitiyaan ack bimari key dauran hoti hain), physiotherapy kii sifarish kii jaati haye. garbhavastha key dauran ack prabhaavit bhroon kii janm pehchaan seey pahale maan aur shishu donon key liye ack surakshit prasav key liye kaee chikitsa vishayon koo shamil karane vaali yojana kii aavashyakta hoti haye aur janm key turant baad hydrocephalus key liye mulyankan aur sambhaavit upchaar kii anumati dene key liye.
hydrocephalsah sir key ander dabaav (intracranial dabaav) koo cumm karane key liye cerebrospinal drav (see. aiss. aff.) koo hataane key liye aavashyakta key anusaar shalya chikitsa kii jaani chaahiye. bauddhik akshamta-vyakti key vikas kii nigrani kii jaani chaahiye kyonki prabhaavit vyaktiyon key beach vikas key parinam parivartansheel hotey hain, inn vyaktiyon key liye shaikshik karyakramon kii aavashyakta hoti haye. jodd curr angootheh shalya chikitsa prakriyaon kii aam taur parr aavashyakta naheen hoti haye, ack splint jodd kii degree koo cumm curr sakata haye, aur halke mamalon mein tendon transfer angoothe key kaary mein sudhaar curr sakata haye.
spastic pairaaplegiyah vartamaan mein tantrika apakshay koo rokane yaa cumm karane key liye koee vishisht upchaar naheen hain. upchaar kaa uddeshya lakshnon koo cumm karna aur santulan, shakti aur chapalata mein sudhaar karna haye. vyaktiyon kaa samay-samay parr ack tantrika vigyaani aur shareer roga visheshagya dwara mulyankan kiya jaanaa chaahiye taaki pragati kaa mulyankan kiya jaa sakey aur chalane kii kshamata koo adhikatam karane aur lakshnon koo cumm karane key liye upchaar ranneetiyaan vikasit kii jaa sakein. sthiti kii tantrika sambandhi visheshtaon kii nigrani karate samay anuvarti kaarravaai aur upchaar key liye samanya dishaanirdeshon kaa paalan kiya jaa sakata haye. spastic paraplegia key upchaar mein aamtaur parr vyayam shamil hotaa haih (1) hriday sambandhi swaasthya mein sudhaar aur rakharkhaav (ootakon koo oxygen kii aapoorti karane kii hriday kii kshamata) (2) cumm karyatmak kshamata koo ulatana (3) chalane key yantriki mein sudhaar, aur samanya roop seey chalana (4) vyakti kii swatantrata aur niyantran kii bhavna mein sudhaar. orthotics kaa upayog pairon key vistaar (pair kii anguli key neeche) koo cumm karane key liye kiya jaa sakata haye, joe kheenchane aur girane kaa kaaran banata haye, yeh dhyaan diyaa jaanaa chaahiye kii orthotics kaa upayog aamtaur parr una davaaon key saath kiya jaataa haye joe spesticity koo cumm karati hain, jaise kii botox.

