I fa hian heng symptoms te hi a nei em? Cohen Syndrome chungchang hi i zir chiang ang u.

Naupang ṭhenkhat chu mi dangte aiin engvângin nge an nungchang leh an ṭhanlen dân a danglam tih i ngaihtuah ngai em? A châng chuan thil tenau tak tak pawhin a hnung lamah thawnthu lian tak a nei thei a ni. Vawiin hian naupangte thil tam tak tichhe thei genetic condition kan sawi dawn a, chu chu an pianhmang, an thanlenna leh an taksa chakna te hi a ni. Hetiang dinhmun hi Cohen Syndrome an ti a.

Cohen Syndrome hi eng nge ni?

A awlsam zawngin Cohen Syndrome hi genetic mutation avanga lo awm a ni. Taksa peng tam tak a nghawng thei a, chung zingah chuan mit hmuhna te, naupang thanlenna te, taksa ruh (muscle tone) te, leh finna thiamna te a nghawng thei a ni . Tin, taksa lama natna lan chhuah dan te, lu te, sam sei, leh sei tawi te pawh a thlen thei bawk.

Hetiang natna neia piang naupangte hian an thanlenna a tikhawtlai thin . Chumi awmzia chu, rolling over, kal, leh thusawi ang chi thilte chu beisei aia tlai zawk a ni thei tihna a ni. Entirnan, i thianpa naute chu thla ruk a nih chuan a roll over mai thei a, mahse hetiang natna nei naute hian hun rei zawk a daih thei. Amaherawhchu, heng hun tikhawtlai tak tak karah hian heng naupangte hi an thlum em em a, an hlim em em a, an inpawh em em fo bawk. An nuih a, an inbiak hian an hmangaih em em thin.

Hei hi genetic mutation avanga lo awm a ni a, tunah hian damdawi a la awm lo. Cohen Syndrome vei tam zawk chu dam chhung pangngaiin hmang mah se, an dam chhungin tanpuina engemaw zat an mamawh dawn a ni.

He natna hi Cohen Syndrome an tih hi engtiang chiahin nge a awm?

Dik tak chuan Cohen Syndrome hi a tam vak lo. Zirna thenkhatah chuan khawvel pumah mi 1,000 aia tlem loin he natna hi an vei tih hmuhchhuah a ni. Mahse, chu natna chu hriat chian loh a nih fo avangin, a tak tak chu a tam zawk thei hle. Chuvang chuan heng dinhmunte hi kan hriat chian a pawimawh hle.

Cohen Syndrome natna lan chhuah dan chu engte nge ni?

Cohen Syndrome hi chhinchhiahna leh chhinchhiahna engemaw zat a awm a. Mi zawng zawng hian a symptom zawng zawng hi an nei vek dawn lo tih hriat reng a pawimawh. A lan chhuah dan tlangpui kan en ang u:

• Intellectual development problems: Hei hian thil zir leh hriatthiam nan hun rei vak lo a duh tihna a ni. Sikul hnathawhnaah ṭanpuina dang i mamawh mai thei.
• Muscle weakness (hypotonia): Taksa chak lohna emaw, taksa chak lohna emaw hriatna. Hei hi naute chawi lai pawhin hriat theih a ni.
• Hypermobility: Joint a inthlak danglam lutuk. Naupang thenkhat chuan kawng mak takin an ke leh ke an ben thei bawk.
• Myopia (nearsightedness) kum upat ruala pung: Thil hnai tak hmu mahse hla taka thil hmuh fiah lo. Hei hi kum upat rualin a pung a, chuvangin mit enfiah fo a pawimawh.
• Retinal dystrophy emaw chorioretinitis: Mit hmuhna atana puitu hmun a chhiat. Hei hian mit hmuhna a hloh zauh zauh thei a ni.

Nausen piang tharte hmuh theih symptoms

Nausen piang tharte zingah hetiang thil hi i hmu mai thei:

• Nau hnute pek harsatna: Nausen hnute pek harsat.
• Tap chak lo emaw, ri sang tak emaw: Naute tap dan chu a danglam thei a, a tlangpui aia chak lo zawk a ni thei.
• Thâwk harsa: Naute hian thawk harsa a ti a.
• Thau chak harsa: Nausen rihna a pung tha tawk lo.

Pawimawh tak: I naute chu thawk a harsat emaw, a sen deuh niin a lang emaw a nih chuan 119 emaw i awmna hmuna emergency number emaw call nghal la, damdawi inah hruai rawh.

Hmasawnna tlai leh nungchang

Naupangte hian an kum rualpui dangte aiin zir leh hmasawn nan hun an mamawh tam zawk mai thei. He hmasawnna tlai hi nausen lai atang tawhin a intan thei a ni. Entirnan, rolling over leh mahni chauha thut ang chi thil hi a tlai thei. I fa chu kum 2 a tlin hnuah a kal tan mai thei a, mahse kum 5 a tlin hmain a kal tan thei bawk.

Hetiang dinhmun hian nungchang lama harsatna engemaw zat a thlen thei a nih pawhin , kan sawi tawh ang khan naupang tam zawk hi an inpawh hle a, an hlim hle bawk. Midang nena inpawh leh inkhelh hi an ngaina hle.

Mahse, heng symptoms te hi naupang tinah hian a inang vek lo tih hre reng ang che. Naupang thenkhat chuan heng symptoms zawng zawng hi an nei vek lo mai thei.

Cohen Syndrome hi taksa lama a lan chhuah dante chu engte nge ni?

Cohen Syndrome vei naupangte zingah hian hmai leh taksa lan dan tlangpui engemaw zat hmuh tur a awm a. Chûng zînga ṭhenkhat chu pian tirh lamah hmuh theih a ni a, ṭhenkhat erawh chu an lo upat deuh deuh chuan a lang chhuak thung.

Hmai lam hawi zawng: 1.1.

• Microcephaly: Lu pangngai aia te zawk.
• Sam sei tak, mitmeng sei tak, leh mitmeng sei tak.
• Mit hnuai lam hawia inher (wave-shaped palpebral fissures): Mitmeng hi wave ang chi a ni.
• Hnar tip round tak a ni.
• Hnar leh hmui chunglam (philtrum) inkar hla vak lo.
• Ha chunglam chhuak chhuak.
• Beng lian tak tak.

Heng mizia thenkhat hi naupang a lo upat deuh deuh chuan a langsar zual a, a tlangpuiin kum 5 a tlin hnuah a langsar zual thin.

Taksa pianphung dangte: 1.1.

Chu bâkah, taksa lama chhinchhiahna dangte chu naupan lai leh a hnu lamah a lang tlangpui thei bawk. Chung zingah chuan:

• Trunk area-a thau awm dan pangngai lo leh ke ruh hring (thinning of the limbs): Chumi awmzia chu taksa lairil (puim vel) chu a lian a, ke ruhte chu a thim zawk tihna a ni.
• A sei zawng tawi.
• Puberty hun sawn hlat.
• Mipa naupangte zingah undecended testicles a awm.
• Ruhro (spine) a curvature (scoliosis emaw kyphosis emaw) a ni.

Cohen Syndrome nen hian eng dinhmun dang nge lo awm thei?

Naupang Cohen Syndrome vei nia hriatte chu an taksa hriselna tichhe thei natna dang an vei theihna a sang hle. Hengte pawh hi hriat chian a pawimawh hle.

• Neutropenia: Hei hi taksaa thisen var (neutrophils an tih) chi khat tlahniam a ni. Heng neutrophils te hian kan taksaa lut natna hrik leh natna hrik te chu an do thin. Chuvangin hengte hi a tlem chuan awlsam takin kan damlo thei a ni. Khawsik, khawsik leh natna dang kan nei fo thei.
• Autoimmune conditions: Chumi awmzia chu taksa ngeiin taksaa cell hrisel tak takte a bei tihna a ni. Keimahni sipaite ngeiin min rawn bei ang maiin han ngaihtuah teh. Entirnan, zunthlum , thyroid natna, leh celiac natna (protein gluten allergy) te hi a ni.

Eng thilin nge Cohen Syndrome hi a thlen?

Cohen Syndrome hi VPS13B gene (COH1 gene tia hriat bawk) a mutation vang a ni . A awlsam zawngin kan taksaa gene pakhat a chhiatna a ni.

Ngaihtuah teh, kan taksa chhungah hian Golgi apparatus tih hming pu thil kan nei a. Protein-packaging factory ang mai a ni. Protein thar siam a nih chuan kan taksa chuan a raw materials chu Golgi apparatus-ah a thawn a, chutah chuan siamthatna engemaw zat a nei a, chutiang chi protein dangte nen dah khawmin a thliar hrang thin. Heng siamthatna te hi siam a nih hnuah Golgi apparatus hian an thupek nen protein te chu a package a, an awmna tur dik takah a thawn chhuak thin.

VPS13B gene hian a bik takin glycosylation , chu chu sugar molecule te protein nena inzawm dan a ni. Tin, neurons leh fat cells (adipocytes) te hnena signal siam leh thawn chhuahnaah a pui bawk .

Chuvangin, VPS13B gene-a inthlak danglamna a awm chuan chu factory chu a thawk tha thei lo ang mai a ni. Chu chu quality product a siam chhuak thei lo tihna a ni. Chu chu Cohen Syndrome symptoms thlentu a ni.

Cohen Syndrome hi thlahtute atanga lo chhuak a ni em?

Ni e, Cohen Syndrome hi thlahtute atanga lo chhuak a ni. He natna hi autosomal recessive pattern-in a kai darh a ni.. Hei hi hriatthiam harsa deuh a nih chuan hetiang hian han ngaihtuah teh: Naupang chuan he natna hi a thlentu gene chhia copy pahnih (pakhat chu an nu hnen atanga pakhat leh pakhat chu an pa hnen atanga an rochun) hian a nei thin. Nu leh pa dik tak te hi gene kengtu an ni thei. Chu chu gene copy chhia pakhat chauh an neih avangin an nei lo tihna a ni. Copy dang chu a hrisel a ni. Mahse, carrier pahnih an inzawm khawm chuan an fain he natna hi a neih theihna chance a awm.

Hemi atan hian tute nge hlauhawm ber?

Cohen Syndrome hian tu pawh a nghawng thei a ni. Mahse, he natna hi mi pawl thenkhatah chuan a tam zawk. Entir nan:

• Amish mite chuan
• Finnish mite an ni
• Greek (Mediterranean) hnam chhuak mite
• Irish hnam chhuak mite

Hei hi Sri Lanka-a kan tan chuan chutiang khawpa special ni lo mah se, hriat a tha.

Cohen Syndrome natna avanga harsatna awm thei te chu engte nge ni?

Cohen Syndrome hian a hnuaia harsatnate hi a thlen thei a ni.

• Hri kai fo thin, chu chu middle ear infection (otitis media) (neutropenia avanga immunity tlahniam vang) te hi a ni.
• Ha leh hmui hriselna lama harsatna nei gingivitis leh canker sores te .
• Mit lama harsatna a pun zel .
• Level hrang hranga rilru lama harsatna nei te .

Cohen Syndrome hi engtin nge an hriat theih?

Doctor chuan Cohen Syndrome hi taksa enfiahna leh test dang a neih hnuah a hre thei a ni. Nu leh pa i nih angin i fate chu an kum nena inmil taka hmasawnna milestone a thleng lo nia i hriat chuan (e.g., nuih loh, aw chhan loh, inher lo, naupang dang angin thusawi lo) chu i fa doctor hnenah hmu rawh. Hei hi a dinhmun chhinchhiahna hmasa ber a ni thei.

Cohen Syndrome hi hriatchhuah a harsa thei a, a chhan chu a natna lan chhuah dan hi natna dang tam tak nen a inang thei a ni. Test hian i doctor chu heng natnate hi a paih chhuak thei a ni. Genetic blood test hmangin heng symptoms awm chhan gene mutation hi a hriat theih a ni.

Cohen Syndrome hi engtin nge enkawl a nih?

Tunah hian Cohen Syndrome hi damdawi a la awm lo . Enkawlna hi a natna lan chhuah dan enkawl leh naupang a theih ang anga nunpui tura tanpui a ni ber. Hei hian a huam thei ang:

• Early intervention educational programme: Naupang hmasawnna leh zirlai tanpui thei tur programme bik.
• Occupational therapy: Nitin hna (ei leh in, incheina, leh inkhelh ang chi) mahni inrintawkna neia i thawh theihna tura puitu enkawlna.
• Physical therapy: Taksa chetna leh thau chakna tichaktu enkawlna. Hei hi hypotonia tan chuan a pawimawh hle.
• Speech therapy: Mi dangte nena inbiakna leh inbiakpawhna thiamna tihhmasawn tura puitu enkawlna.
• Glasses vuah emaw, mitdelna training emaw.

Cohen Syndrome nena inzawm neutropenia hi a tlangpuiin Granulocyte-Colony Stimulating Factor (G-CSF) tih damdawi vun hnuaiah injection hmanga enkawl a ni. Hei hian ruhro (bone marrow) chu thisen var tam zawk siam turin a tichak a, chu chuan natna kai theihna a ti tlem a ni.

I fain natna a vei fo chuan doctor chuan a tul anga enkawl turin antibiotics a pe ang.

Cohen Syndrome vei dam rei zawng chu engzat nge ni ang?

Cohen Syndrome hi natna tlanglawn tak a nih loh avangin mi dam chhung a nghawng dan dik tak sawi tur hian finfiahna a awm tawk lo. He natna vei tam tak chu dam chhung pangngaia an awm laiin, mi zawng zawng hian an dam vek lo. Hei hian dam chhung a nghawng thei a, a bik takin i fa hian taksa hriselna tichhe thei natna dang (infection na tak, natna khirh tak tak a neih fo ang chi) a neih chuan.

Cohen Syndrome hi eng prognosis nge ni?

Cohen Syndrome hian i fa nun kawng tam tak a nghawng thei a ni. Mahse, enkawl dan dik leh hmangaihna nena enkawl an nih chuan prognosis tha tak an nei thei a ni.

Doctor chuan an natna lan chhuah dan ang zela enkawlna chi hrang hrang a rawt ang. Chûngte chu mi hrang hrangah a inang lo thei a ni. Enkawlnaah hian therapy leh zirtirna programme te a tel tlangpui. Chûngte chuan naupang chu an kum nêna inmil tûra hmasawnna milestone a thlen theih nân a ṭanpui a ni.

I fa chu mitdelna leh ha lam harsatnain a nghawng thei a ni. Chungte chu sikul kum an tlin veleh a intan tlangpui. Chuvangin, mit enkawltu specialist , dentist, leh health care provider rawt dangte chu an lo thanglian zel angin an natna lan chhuah dan enfiah turin hmu chhunzawm rawh .

Cohen Syndrome hi ven theih a ni em?

Cohen Syndrome hi genetic condition a nih avangin ven theih a ni lo . Chhungkaw din i tum a nih chuan, i chhungkuaa mi tu emaw chuan he genetic condition hi a nei a nih chuan, emaw, Cohen Syndrome ang chi hereditary condition nei fa neih theihna tur i neih theihna tur i hriat duh chuan, i naupai enkawltu emaw healthcare provider emaw nen genetic testing/counseling chungchang sawipui a pawimawh hle

Engtikah nge Doctor ka hmuh ang?

I fa enkawltu i nih angin i hre chiang ber. A thanlenna emaw, a thanlennaah emaw thil danglam emaw, thil danglam emaw i hmuh chuan a doctor hnenah zawhfiah tur a ni. Thil tenawm tak mai pawh ni se, sawi chhuah hlau suh.

I fate hmasawnna tur thil pawimawh tak takte chu ngun takin ngaihven rawh . Naupang Cohen Syndrome vei nia hriatte hian rolling over leh an thusawi hmasa ber sawi ang chi milestone an thlen theih nan hun rei zawk an hmang thin. Hemi hun chhung hian i fate tanpui dan tur i doctor chuan a kaihruai thei che a ni.

Rikrum! I fain thawk harsatna a neih chuan, emaw, vun leh nail dum emaw, sen emaw a neih chuan emergency services call nghal rawh.

Doctor hnenah eng zawhna nge ka zawh ang?

Doctor hnenah i fa chungchang i sawi dawnin hetiang zawhna hi zawh hi a \angkai thei ang:

• Ka fa hian hmasawnna kawng hrang hrang a hloh a nih chuan eng nge ka tih ang?
• Eng symptom nge ka fimkhur tur?
• Eng enkawlna nge i rawt?
• Enkawlna hian side effect a nei em?
• Engtin nge ka fa chu sikula hlawhtling turin ka puih theih ang?
• Nu leh pa pawl dang emaw, pawl dang emaw kan pan theih tur a awm em?

Cohen Syndrome hi Autism a ni em?

No. Autism Spectrum Disorder (ASD) hi neurodevelopmental natna a ni a . Cohen Syndrome hi genetic condition a ni a. An pahnih hi a inang lo. Mahse, naupang tam tak Cohen Syndrome vei nia hriatte chuan autism (ASD) ang chi symptoms (e.g., khawtlang harsatna, thil tih nawn fo thin) an nei thei a, Cohen Syndrome nen hian ASD an nei thei bawk. Hei hi Doctor pawhin chiang takin a hrilhfiah thei a ni.

A tawp berah chuan hriat reng tur (Take-Home Message) .

I fain an kum ang zela milestone a thlen loh lai hian stress leh lungngaihna i neih hi thil pangngai a ni. Doctor-te’n thil awmdan hriat tumin test an neih avangin a buaithlak zual thei bawk. Mahse, Cohen Syndrome hi natna awm lo tak ni mahse, doctor-te chuan nitin he natna chungchang leh enkawl dan tur an zir nasa hle.

Early intervention programme hian i fate chu an hmasawnna tumte a hlen chhuah theih nan a pui thei a, chu chu an kum rualpui midangte aiin rei vak lo a la ngai a nih pawhin. Cohen Syndrome hian naupang rilru lam theihna a nghawng thei bawk a, chuvangin an dam chhung zawngin i hmangaihna, i thlawpna leh i tanpuina an mamawh dawn a ni.

Mahni chauha inhriat ngai suh.Doctor, therapist leh support group dangte chu nang leh i fate tanpui turin an awm a ni. I zawhnate zawt la, i rilru put hmang sawi rawh. I fa chu a tha ber pe thei tura chakna i neih theih nan duhsakna kan hlan a che!

` Cohen Syndrome, Genetic Diseases, Hmasawnna tlai, Naupang hriselna, Neutropenia, Microcephaly, Hypotonia