I fa chu a hlim reng em? Genetic condition hmuh tur awm lo (Angelman Syndrome) a ni thei bawk .

Nu leh pa tu pawhin an fa naupang nuihzatthlak leh hlim reng reng an hmuh hi a lawmawm a ni lawm ni? Mahse, a châng chuan he hlim leh kut beng reng reng hi genetic condition hmuh tur awm lo tak chhinchhiahna a ni thei tih i ngaihtuah ngai em? He thu hi i hriat chuan mak i ti mai thei. Vawiin hian chutiang natna pakhat, Angelman Syndrome chungchang kan sawi dawn a ni.

A awlsam zawngin Angelman Syndrome hi eng nge ni?

Angelman Syndrome hi genetic condition hmuh tur awm lo tak a ni a, i fate thanlenna, tawngkam, balance leh che vel a tichhe thin. A then phei chuan seizure a thlen thei bawk.

Hetiang natna nei naupang i en hian naupang pangngai aiin an hlim zawk a, an rilru a tha zawk fo tih i hmu ang. An nui nasa hle a, an nui nasa hle. An hlim laiin kut zungtang an siam thin. Dik tak chuan naupang nuihzatthlak kan hmuh hian hlimna kan nei bawk. Chuvangin, he naupang hlimna hi natna chhinchhiahna a ni thei tih ngaihtuah chu thil mak i ti mai thei.

Naupang a lo upat deuh deuh chuan symptom dang a lang tan thei bawk. Entîr nân, kum khat an tlin meuh chuan an thu hmasa ber sawi loh ang chi, ṭhanlenna lama tlaizia i hmu ṭan thei a ni. Kum hnih leh kum thum inkarah pawh seizure a awm thei bawk.

Hetiang dinhmun hi engtiang chiahin nge a awm?

Angelman Syndrome hi natna hlauhawm tak a ni a, mi 12,000 atanga 20,000 zinga pakhat velin a vei thin.

Angelman Syndrome natna lan chhuah dan chu engte nge ni?

Hetiang natna lan chhuah dan hi mi hrang hrangah leh kum a zirin a inang lo thei. Tin, chi hnih ah then ila.

Heng naupangte hmela thil danglam bik hmuh tur awmte hi

• Luruh tawi leh zau `(brachycephaly)`
• Lei lian tak `(macroglossia)`
• Lu pangngai aia te zawk (microcephaly) .
• Mandibular prognathia a awm thin
• Kawng zau tak
• Ha inkarah gap lian tak tak a awm

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

Engvangin nge Angelman Syndrome hi a lo awm? Eng nge a chhan?

Kan taksa hian instruction book set khat a nei ang tih han ngaihtuah teh. Heng genes te hi kan ti a . Heng genes te hian kan taksa chhunga thil awm zawng zawng hi an thunun vek a ni. Angelman Syndrome hi `UBE3A` tih gene a inthlak emaw, a chhiat emaw avanga lo awm a ni. He gene hi kan nervous system hnathawh dan tur ruahmannaah a pawimawh hle.

A tlangpuiin gene tin copy pahnih kan dawng a, pakhat chu kan nu hnen atangin leh pakhat chu kan pa hnen atangin. Taksa hmun tam zawkah chuan copy pahnih hi active an ni. Mahse, thluak hmun thenkhatah chuan kan nu hnen atanga kan hmuh gene `UBE3A` copy chauh hi a thawk a ni.

Nu atanga rochun `UBE3A` gene copy chu engtin emaw takin a chhiat emaw, a bo emaw a nih chuan, chu thluak hmun hrang hrangah chuan `UBE3A` gene hnathawk thei a awm lo. Hei hi Angelman Syndrome nena inzawm symptoms awm chhan ber a ni.

He natna hi Doctor ten engtin nge an hriat chian?

He natna lan chhuah dan hi pian tirh lamah a lang lo tlangpui. Doctor-te chuan naupang kum khat leh kum li inkar a nih laiin an hriat chhuah tlangpui.

Doctor chuan naupang chu a lo thanglian zawi zawi tih a hriat chuan, an kum nena inmil khawpa chak taka tawng lo emaw, kal tan lo emaw ang chi chu a ringhlel thei a ni. Chumi hnuah naupang nungchang leh a lan chhuah dan dangte uluk takin a enfiah ang.

Diagnosis finfiah nan hian genetic testing neih a ngai a ni. Heng test te hian `UBE3A` gene ah hian chhiatna a awm leh awm loh dik takin a hriat theih a ni.

He natna hi hriat sual theih a ni em?

Ni e, a chang chuan chutiang chu a ni thei a, a chhan chu Angelman Syndrome symptoms hi damdawi lam natna dang engemaw zat nen a inang a ni.

• Autism spectrum natna a ni
• Cerebral palsy natna a ni
• Prader-Willi natna a ni

Hetiang dinhmun hi a inzawm tlat thei a, chuvangin, diagnosis dik tak neih theih nan genetic testing hi a pawimawh hle.

Angelman Syndrome hi eng enkawlna nge ni?

Tunah hian Angelman Syndrome hi damdawi a la awm lo. Mahse, enkawlna tam tak a awm a, chu chuan a natna lan chhuah dan tur a enkawl thei a, naupang chu nun tha zawk a nei thei bawk.

• Antiseizure damdawi: Doctor-in damdawi a pekte chu uluk taka pek tur a ni.
• Speech therapy: Naupang chu sign language, thlalak, leh inbiakpawhna hmanrua bik hmanga a rilru put hmang sawi chhuah tura tanpui.
• Physical therapy: Kea kal dan, balance leh coordination tihchangtlun nan a pui thin.
• Occupational therapy: Naupang chu nitin hna thawk thei tura zirtirna leh mahni inrintawkna nei tura zirtir.
• Assistive devices: Kea kal leh ding tura pui turin hnungzang, ke ruh, kea braces bun hman a ni.
• Mut lama harsatna nei tan: Mut dan tha siam la, hun ruat saah mut dan thiam rawh.
• Chaw ei lama harsatna nei tan: Doctor-in a pek damdawi pek tur a ni.

Naupang tin enkawlna mamawh a inang lo. I doctor chuan i fa natna lan chhuah dan leh a mamawh dan a zirin enkawl dan tur tha ber a ruat ang.

Ka fa enkawl turin eng nge ka tih theih ang?

Nu leh pa in nih angin chanvo lian tak in nei a ni.

• Doctor-in damdawi a pekte chu a hun takah leh a zat dik takah pe thin ang che.
• I fate hmasawnna enfiahna clinic-ah kal ngei ngei tur a ni.
• I fa chu taksa, hnathawhna, leh thusawi therapy session-ah te tel tir rawh.
• Appointment ruahman apiangah doctor pan ngei ngei tur a ni.

Angelman Syndrome vei naupangte hian an dam chhungin nitin hnathawhnaah tanpuina an mamawh mai thei. I fa enkawltu medical team chuan i mamawh tanpuina leh thurawn an pe ang che.

Engtikah nge Doctor i hmuh a ngaih?

Hetiang natna vei naupang hian enkawlna leh enkawlna te a thawk tha em tih hriat nan medical checkup neih fo a ngai a ni. I fate natna lan chhuah danah danglamna thar emaw, a zual zel emaw i hmuh chuan i doctor hnenah hriattir nghal rawh.

Heng naupangte hmalam hun hi eng ang nge ni ang?

Angelman Syndrome vei tam zawk hi chu dam rei zawng pangngai an ni. Chumi awmzia chu an dinhmun avang hian an thi thuai lo tihna a ni. Naupang a lo puitlin chuan a chetna, a thusawi leh a thanlennaah pawh tihkhawtlai engemaw zat a awm ang. Mahse, naupang chu a inkhel thei a, a zir thei a, naupang dangte nen pawh an thawk dun thei bawk.

Puitling an nih chuan mi thenkhat chu tanpuina engemaw zat nen mahni inrintawkna neiin an khawsa thei a ni. Mi dangte chuan hun kima enkawlna an mamawh mai thei.

I fa nuih mawi tak chu natna chhinchhiahna a ni tih i hriat chuan phurrit rit tak nia i hriat chu hriatthiam theih a ni. Mahse, he diagnosis hnuah pawh i naupang tê hian chu nuihzatthlak tak, chu nuihzatthlak tak chu a la nei reng dawn tih hre reng ang che. A pawimawh ber chu i fate thanlen dan ngaihven a, a hun taka enkawl ngai, doctor-in a sawi angin pek hi a ni. I doctor leh medical team te chuan i kalna apiangah an pui ang che. Chuvangin zawhna zawh hreh suh la, he natna chungchang hi zir belh rawh.