Angelman Syndrome: I Naute Nuihzatthlak Hnunglam Thuthang

I naupang tê chu a nui reng a, a hlim reng em? A hlimna lantir nan a chang chuan a kut a vawm thin em? I hmuh hian ropui takin i inhria mai thei. Mahse, chutiang hmêl hlim tak hnuaiah chuan a châng chuan a ṭhanlenna, a thusawi, leh a kalna tichhe thei genetic condition hmuh tur awm lo tak a awm thei tih i hria em? Vawiin hian chutiang natna pakhat, Angelman Syndrome chungchang kan sawi dawn a ni.

Angelman Syndrome hi eng nge ni?

A awlsam zawngin, Angelman Syndrome hi genetic condition hmuh tur awm lo tak a ni . I fate thanlenna, tawngkam leh kal dan a nghawng thei a ni. Naupang thenkhat chuan seizures an nei thei bawk.

Mahse he thila thil danglam bik chu hetiang natna nei naupangte hi hlim tak leh nuihzatthlak tak anga ngaih an ni fo thin . An nui nasa hle a, an nui nasa hle a, a chang chuan an phur chuan ``kut inthlakna`` an siam bawk. Hei hi i hmuh hian i hlim ve bawk a, ‘Aw, ka fate hlimna hi natna chhinchhiahna a ni thei ang em?’ tih pawh i ngaihtuah mai thei bawk.

Hetiang dinhmun hi nunna atana hlauhawm a ni lo va, i fa dam chhung zawngah nghawng lian tham a nei lo tihna a ni. Mahse, nu leh pa thar tan chuan a buaithlak deuh thei. I fa chu a lo ṭhan chhoh zêl chuan, kea kal, thusawi, leh ṭhanlenna kawngah harsatna a tawk thei a ni. Mahse, heng symptoms te hi enkawl thei tur leh nun pangngaia nunpui thei tur enkawlna tha tak tak a awm .

Angelman Syndrome hi engtiang chiahin nge a tlem?

Hei hi thil awm lo tak a ni. A tlangpuiin naupang 12,000 atanga 20,000 zinga pakhat velin a nghawng a ni .

Engtin nge kan naute hian he natna hi a nei tih kan hriat theih ang? (Natna)

Angelman Syndrome vei naupangte symptoms hi mi hrang hrangah a inang lo thei. Heng symptoms te hi kum upa lam a zirin a danglam thei bawk. Simptom hmuh theih ber berte han thlir ila.

Naupan lai atanga hmuh theih symptoms

I fa a naupan lai khan thil engemaw chu i lo hmuchhuak tawh mai thei. Entir nan:

• Hmasawnna tlai: Naupang dangte angin thil a ti thei lo mai thei. Entîr nân, kum khat vêl an tlin huna an thu hmasa ber sawi loh.
• Naupai harsatna: Naute hian hnute a latching harsa thei.
• Hlim leh nuihzatthlak reng: Hei hi mi tam zawkin an hriat hmasak ber a ni. Nui reng reng, phur lai chuan kutbeng.
• Mut harsatna: Mut danah harsatna a awm thei.

Tlemte i lo upa deuh huna hmuh theih symptoms

Naupang chu a lo upa deuh deuh a, kum hnih emaw kum thum emaw vel a nih chuan natna dang a lo lang thei a:

• Intellectual disability: Zirna lama tihkhawtlai engemaw zat hmuh tur a awm thei.
• Thusawi harsatna: Naupang thenkhat chuan thu tlemte chauh an sawi thei a, thenkhat erawh chuanThumal khat pawh (nonverbal) i sawi thei lo mai thei.
• Kal lama harsatna: I kal dan chu awkward, wide-based gait hmangin i kal thei a, balance mumal tak nei lovin . Hei hi ataxia (balance emaw coordination emaw lama harsatna) an ti \hin.
• Seizures: Kum hnih leh kum thum inkar atanga seizures hi a intan thei.
• Muscle inthlak danglamna: Kut leh keah muscle tone a sang thei a, trunk-ah muscle tone a tlahniam thei bawk.
• Scoliosis: Ruhro (spine) a curvature (curvature) hmuh tur a awm.
• Digestive system lama harsatna: Constipation emaw gastroesophageal reflux disorder (GERD) emaw a awm thei.
• Mit lama harsatna: Nystagmus , strabismus , leh photophobia ang chi thilte.
• Vun rawng a inthlak (hypopigmentation): Vun rawng hi hmun thenkhatah a tlahniam thei.

Hmai hmel lan dan bik

Heng naupangte hian an hmel lan danah hian thil danglam bik engemaw zat an nei bawk a, mahse hengte hi mi zawng zawng tan chuan a inang vek lo.

• Luruh tawi leh zau (brachycephaly) .
• Lei chu a pangngai aia lian (macroglossia) .
• Lu pangngai aia te zawk (microcephaly) .
• A hnuai lam atanga rawn chhuak (mandibular prognathia) .
• Kawng zau tak
• Ha inkar zau tak

Heng symptoms te hi i upat deuh deuh chuan a langsar zual thin.

Engvangin nge hetiang hi a lo awm? A chhan engte nge ni?

Awle, tunah chuan Angelman Syndrome thlentu chu eng nge ni tih kan en ang. Hei hi genetic condition a ni a . Kan taksaa UBE3A an tih gene inthlak danglam vang a ni.

A awlsam zawngin sawi ila, he `UBE3A` gene hian kan nervous system hnathawh puitu ubiquitin protein ligase E3A tih enzyme siam turin min hrilh a ni. He gene hi a chhiat emaw, a bo emaw a nih chuan Angelman syndrome symptoms a lang chhuak thin.

A tlangpuiin gene tin copy pahnih kan hmu thin – pakhat chu kan nu hnen atangin, pakhat chu kan pa hnen atangin. Kan taksa tissue tam zawkah hian he `UBE3A` gene copy pahnih hi active an ni. Mahse, thluak hmun bik thenkhatah chuan kan nu atanga copy chauh a active a ni.Chuvangin, engtin emaw takin he `UBE3A` gene i nu hnen atanga i hmuh copy hi a chhiat a nih chuan, a nih loh leh a bo a nih chuan, chu thluak hmunte chuan he gene hnathawhna copy chu an hloh ta a ni. Chutah chuan nervous system hnathawh a nghawng a, heng symptoms te hi a lo awm ta a ni.

A tam zâwk chuan hei hi chhûngkaw zînga kal thil a ni lo . Random genetic change avanga lo awm a ni. A then phei chuan `UBE3A` gene bakah hian genetic change dang la hriat loh vang pawh a ni thei.

Engtin nge doctor-te hian hei hi dik taka an hriat theih?

A tlangpuiin Angelman Syndrome symptoms hi pian tirh atangin a lang lo. Doctor te chuan kum khat atanga kum li inkar an ni tlangpui . Mahse, naupai laiin he natna hi hriat theih hun a awm.

Hei hi a chang chuan naupai laiin noninvasive prenatal screening (NIPS) tih test hmangin a hmain hriat theih a ni. NIPS test hian nu thisenah naute DNA chi hrang hrang a zawng a, naute hian genetic condition a neih theih dan tur a zirchiang a ni.

Doctor chuan naupangin an kum nena inmil hmasawnna atana thil pawimawh tak tak a tlin loh chuan he natna hi a ringhlel fo thin . Entîr nân, an thu hmasa ber a hun taka sawi loh emaw, kal ṭan loh emaw. Hei bakah hian doctor chuan naupang natna lan chhuah dan dangte pawh a ngaihven ang.

To confirm the diagnosis , genetic testing neih a ngai a ni. Heng test te hian UBE3A gene a inthlak danglamna te chu a hriat theih a ni. A châng chuan, chutiang bawka chhinchhiahna thlentu dinhmun dangte chu paih chhuah nân test dang neih belh a ngai thei bawk.

Misdiagnosis a ni thei ang em?

Ni e, a chang chuan misdiagnosis a ni thei a, a chhan chu Angelman syndrome symptoms hi condition dang symptoms nen a inang hle a ni. Entir nan:

• Autism spectrum natna a ni
• Cerebral palsy natna a ni
• Christianson syndrome natna a ni
• Mowat-Wilson natna `(Mowat-Wilson natna)`
• Phelan-McDermid natna `(Phelan-McDermid natna)`
• Pitt-Hopkins natna a ni
• Prader-Willi natna a ni

Chuvangin, genetic testing leh test dangte hi dik taka hriat theih nan a pawimawh hle .

Hei hi eng enkawlna nge ni?

Angelman Syndrome hi damdawi a la awm lo . Mahse, i fate natna lan chhuah dan control thei tur enkawlna tam tak a awm. Heng enkawlnate hi naupang hrang hrangah a inang lo thei a, mi zawng zawng hian natna lan chhuah dan inang an nei vek lo.

Enkawl dan tur thenkhat chu hetiang hi a ni:

• Antiseizure damdawi: Seizure nei naupangte hian heng damdawi te hi an mamawh a ni.
• Thusawi leh inbiakpawhna therapy: Thusawi pui, sign language zir tanpui, leh inbiakpawhna hmanrua bik hman thiam ang chi thilte.
• Early Intervention leh Educational Resources: Naupangte hmasawnna tur milestone an thlen theihna tur leh zirna lama thil tum tihhlawhtlinna tura puitu programme.
• Physical therapy: Balance, coordination leh kea kal harsatna te hneh turin a pui thin.
• Occupational therapy: Naupang chu mahni inrintawkna neia hnathawh tur leh nitin hna thawk turin a pui thin.
• Supportive devices: I hnungzang, i kephah leh i ke atan braces i hman a ngai mai thei.
• Nu hnute pek dan bik: Nausen hnute pek harsatna nei tan special soup ang chi thil.
• Mut dan tha siam: Hun ruat saa mut dan.
• Digestive system puitu damdawi: Taksa chhunga chaw ei tur dik taka kal theihna tura puitu damdawi.

I fa doctor-in i fa tana enkawlna kawng engte nge a remchan ber tih a rel ang.

Angelman Syndrome vei naupang enkawl dan tur?

Angelman syndrome vei naupang enkawl dawnin doctor thupek zawm a pawimawh hle.

• Damdawi pek dan anga pek.
• Thurawn angin hmasawnna tehfung neih.
• Physics therapy, occupational therapy, leh speech therapy-a tel.
• Ni ruat saah doctor hmu turin kal.

Heng naupangte hian an dam chhung zawngin nitin hnathawhnaah tanpuina an mamawh mai thei. I fa medical team chuan engkim ah an pui ang che a, i zawhnate chu an chhang ang che a, \angkai thei tur support group chungchang pawh an hrilh ang che.

Doctor hmuh hun engtik lai nge i mamawh?

I fain Angelman syndrome a neih chuan i medical team te chu i hmu fo tur a ni a, chu chu enkawlna leh enkawlna te a tha em tih hriat chian a ngai a ni.

• Symptom thar i hmuh chuan emaw, symptom awmsa chu a zual zel nia i hriat chuan doctor hnenah hrilh nghal rawh.
• I fain a vawi khatna atan seizure a neih chuan , emergency room-ah i hruai nghal tur a ni.

Doctor hnena zawh tur pawimawhte chu engte nge ni?

I fain Angelman syndrome a vei tih i hriat veleh doctor hnena zawhna i zawh theih tur thenkhat chu hetiang hi a ni:

• Ka fa natna lan chhuah dan thunun nan eng enkawlna tha ber berte nge ni?
• Engtin nge ka fa chu inbiakpawhna tha zawk neih theih nan ka puih theih ang ?
• Fa dang neih ka tum a nih chuan genetic test emaw genetic counseling emaw hi ka ngaihtuah ang.I ti duh em?
• Engtin nge nakin lawka ka fain a mamawh tur ṭanpuina chu ka ruahman ṭhat theih ang?
• Support group i recommend thei ang em?

Hei hi ven theih a ni em?

Angelman syndrome hi nausen stage chhunga random genetic changes lo awm avanga lo awm a nih avangin ven theih a ni lo . A chhan hriat lohvin a thleng fo thin.

A tlem hle a, mi thenkhat chuan he natna hi an rochun thei. Fa neih i tum a nih chuan, i doctor nen genetic counseling chungchang sawipui la, genetic condition emaw, genetic change inherited emaw avanga lo awm thei condition nei fa neih a hlauhawmzia hriatthiam a tha.

Heng naupangte dam chhung hi eng nge sawi tur i neih?

Angelman Syndrome vei tam zawk hi chu dam rei zawng pangngai an ni . Chumi awmzia chu he natna nei chu a nei lo aiin a thi hma lo tihna a ni. Mahse, a natna lan chhuah dan nasat dan hi mi tin a inang lo. Seizure na tak avanga harsatna emaw, tlu avanga hliam na tak emaw lo awm hi a chang chuan nunna atana hlauhawm thei a ni. I fa medical team chuan heng thil thlengte laka invenna tur leh i fa him taka awmtir turin enkawlna an pe ang.

Chuti a nih chuan, nakin hun chu eng ang nge ni ang?

Doctor-te hian i fa hmalam hun chungchang an sawi hian thil tam tak an ngaihtuah a. I fa a lo seilian chhoh zel chuan kea kal, thusawi, leh hmasawnna engemaw zat tihkhawtlai i beisei thei a ni. Mahse, i fa chu an kum rualpui naupang dangte nen thiltih hrang hrangah a tel thei ang a, a inkhel thei ang a, a zir thei bawk ang .

Hetiang natna vei puitling ṭhenkhat chu anmahni chauhin an khawsa thei a, ṭhenkhat erawh chuan an lo upat deuh deuh chuan ṭanpuitu enkawlna an mamawh thei thung. Chuvangin, i fa doctor hi kum lo awm turah eng nge i beisei tur tih hre tur chuan a tha ber a ni.

I fa nuih reng reng leh hlim hmel chu a takah chuan a hnuaia genetic condition chhinchhiahna a ni tih hriat chu a buaithlak thei a, a buaithlak thei bawk. Mahse, i fa chu Angelman Syndrome vei nia hriat a nih hnuah pawh a la nui reng thei a, a la hlim reng thei bawk . A pawimawh ber chu i fate chu an mamawh ang zela hma an sawn theih nan doctor hnena hruai fo hi a ni. I fa medical team te chu i kalna apiangah an awmpui ang che. He natna chungchang hriat belh duh leh hmalam hun hriat duh tan zawhna zawt hreh suh.

A tawp berah chuan thil hriat reng tur

Angelman Syndrome hi genetic condition hmuh tur awm lo tak a ni a, mahse nunna atana hlauhawm a ni lo. I fa chu hlim leh nuihzatthlak reng ang maia lang mahse, a hmasawnna a tlai a, tawng a harsat a, a kal harsatna a nei a nih chuan, chu chu doctor nen inbiakna neih a pawimawh hle.

• A hmaa hriatchhuah leh enkawlna tul tak tak tan hian naupang nunphung tihchangtlunna kawngah kawng thui tak a zawh a ni.
• Naupang tan chuanSpeech therapy, physical therapy, leh occupational therapy ang chi thilte hian nasa takin a pui thei a ni.
• Nangmah chauh i ni lo. He zinkawngah hian support group leh doctor-te thurawn te hi i tan chakna ropui tak a ni ang.
• I fa hlimna leh nuihzatna hi i thlamuanna ber a ni. Chu hlimna chu humhim la, i fa chu a tha ber pek tum ang che. Ngaihtuahna tha neih a pawimawh hle.

` Angelman Syndrome, genetic diseases, naupang thanlenna, hmasawnna tlai, thusawi therapy, seizures, UBE3A gene, hlim hmel