I fa hian thluak hmasawnna lama harsatna awm lo tak a nei em? (Miller-Dieker Syndrome) (Miller-Dieker natna) a ni.

Vawiin hian nu leh pate tana thupui hmuh tur awm lo leh sensitive tak kan sawi dawn a ni. Hei hi Miller-Dieker Syndrome an tih mai a ni. Hei hi genetic condition a ni a, i naute thluak hmasawnna a tichhe thei a ni. He hming hi i la hre ngai lo mai thei, mahse heng dinhmunte hi hriat chian hi a pawimawh hle thei a, a bik takin nu leh pa thar tan chuan.

Miller-Dieker Syndrome hi eng nge ni?

A awlsam zawngin, Miller-Decker syndrome hi genetic condition hmuh tur awm lo tak a ni a, i fa thluak pawn lam, cerebral cortex , an tih chu a hrual a ni. A tlangpuiin thluak hrisel takah chuan he part hian complex folds, wrinkles leh grooves tam tak a nei a. Walnut ang mai a ni. Mahse hetiang natna nei naupangteah chuan chu fold leh groove te chu a lo insiam tha lo.

Hetiang natna nei naupang hian a pian tirh atangin taksa lama natna lan chhuahna engemaw zat a nei thei a ni. Chutiang a nih loh chuan thla 6 vel a nih veleh hmasawnna leh thluak lama harsatna nasa tak a lo lang tan thin. A tam zawkah chuan hei hi chromosomes random change vang a ni. Mahse, a then phei chuan he natna hi nu leh pa atanga rochun gene mutation vang pawh a ni thei.

Vanduaithlak takin Miller-Decker syndrome hi damdawi a la awm lo. Nunna tikhawtlai thei a ni a, naupang tam zawk chu kum 2 an tlin hmain an thi thin.

Hetiang dinhmun hi kum 1960 chho vel khan doctor pahnih James Q. Miller leh H. Dieker te chuan an sawi hmasa ber a ni. Chuvangin "Miller-Dieker syndrome" an ti a ni.

Hei hi eng hming dang nge ni?

I doctor chuan Miller-Decker syndrome atan hian damdawi lam hming lissencephaly a hmang thei ang. Lissencephaly tih awmzia chu "thluak hrual" tihna a ni. Heng hmingte hi i hre mai thei bawk:

• Classic lissencephaly natna a ni
• MDS
• Miller-Dieker-a rilru natna (lissencephaly syndrome) a ni

Hetiang dinhmun hi engtiang chiahin nge a awm?

Miller-Decker syndrome hi a awm lo hle a ni . Nau piang thar 100,000 zinga pakhat velin a nghawng a ni. Chumi awmzia chu Sri Lanka ramah pawh hetiang natna nei naupang hi hmuh tur a awm lo hle tihna a ni.

Hei hi eng nge a chhan?

Miller-Decker syndrome nei naupangte hian chromosome 17-ah hian a awm lo.An awm. Chu chu gene pakhat emaw a aia tam emaw an hloh tihna a ni. Kan taksaah hian zirtirna bu tlemte kan nei ang maiin han ngaihtuah teh, chu chu chromosome kan ti a ni. Heng chromosomes chhungah hian genes a awm a, chu chu kan taksa chhunga thil awm zawng zawng control tu code a ni. Chuvangin, he genes hloh hi random takin a thleng fo thin a, chu chu chhan hriat lohvin a thleng fo thin. Hetianga genes hloh hi sperm-ah te, egg-ah te, nausen pum chhunga naupai hnua a lo thanglian lai emaw a thleng thei a ni.

Chhungkaw tam takah chuan hetiang natna nei naupang a lo pian hian chhungkaw zingah tumahin he natna hi an la nei lo. Chu chu chhungkaw history a awm lo tihna a ni.

Mahse, a châng chuan, chhûngkaw 10 zînga pakhat vêlah , nu leh pa zînga pakhat chuan chromosome 17-ah gene danglam deuh a nei a, chu chu a inrem dân dik lo tihna a ni. Doctor te chuan hei hi balanced translocation an ti a . He chromosome-a gene zawng zawng hi a awm vek a, chu chu gene a bo lo tihna a ni a, nu emaw pa emaw pawhin Miller-Decker syndrome symptoms an lantir dawn lo. Mahse, hetiang ‘translocation’ nei nu leh pate hian fa an neih chuan, a inrem dan mumal lo avang hian naupang chuan gene thenkhat a hloh thei a ni.

He gene tlakchhamna hian naute pum chhunga a la awm laiin thluak than dan a nghawng a ni. Sawi tawh ang khan thluak pawn lam (cerebral cortex) hian fold leh groove mumal tak a nei lo va, chu chu a hrual ta a ni.

Eng nge a lan chhuah dan?

Miller-Decker syndrome hian naupang taksa leh rilru lama hmasawnna a nghawng vek a ni . Naute thluak a puitlin loh danah a natna lanchhuahna nasat dan a innghat a ni.

Naupang hian natna lan chhuahna a nei thei a, chungte chu:

• Thâwk harsa
• Developmental delays - Chumi awmzia chu mahni kum nena inmil thil tih tlai tihna a ni.
• Chaw ei harsa (dysphagia) .
• Chaw pek chungchangah harsatna a awm
• Low muscle tone (hypotonia) - Chumi awmzia chu taksa ruhte chu a chak lo va, a flaccid tihna a ni.
• Muscle stiffness emaw spasticity emaw a awm thei
• Seizures - Fit fo thinna natna a ni.
• Taksa hmasawnna zawi zawi

Naupang hmel lan dan atanga hmuh theih mizia

Miller-Decker syndrome nei naupangte hian lu pangngai aia te an nei fo thin. Hei hi microcephaly an ti a . Hmel danglam bik thenkhat pawh an nei thei bawk:

• Beng hi a tlangpui aia hniam zawka set a ni a, a pianzia danglam tak a nei thei bawk.
• Hmai chu hmalam panin a rawn chhuak a.
• Hnar hi a te a, a chunglam a hawi thei bawk.
• Hmai lai tak chu a pil tawh niin a lang (midface hypoplasia) .
• A hmui chunglam chu a zau thei a, a hnuai lam chu a te zawk thei bawk.

Eng harsatna nge awm thei?

Naupang thenkhat chuan an pian tirh lamah harsatna dang an nei thei bawk. Entir nan:

• Congenital heart conditions - pian tirh atanga lo awm thin thinlung natna.
• Kut zungtang chu a hrual emaw, a ben (clinodactyly) emaw a ni thei .
• Kidney lama harsatna nei.
• Pum chhung peng thenkhat chu pum pawnah a awm thei (omphalocele) .

He natna hi engtin nge an hriat chhuah?

Naupai laiin test ṭhenkhat, ultrasound scan -te chuan i doctor-in i naute thluak ṭhang ṭha lo emaw, syndrome chhinchhiahna dang emaw a neih leh neih loh a hriat theih nân a ṭanpui thei a ni. Hei hi rinhlelh a nih chuan i doctor chuan genetic amniocentesis emaw chorionic villus sampling (CVS) emaw a rawt thei ang. Heng test te hian i naute hian Miller-Decker syndrome nena inzawm genetic changes a nei em tih a finfiah thei a ni.

Naute a pian hnuah, nangmah emaw, i doctor emaw chuan a hmaa kan sawi tawh hmêl lan dân chiang tak ṭhenkhat chu i hmu thei a ni. A nih loh leh, naute chuan seizures a nei tan thei bawk . Vawi tam tak chu heng naute hian thla thum atanga thla nga chhunga naupang thanlenna milestone - thut leh inher ang chi te hi an paltlang lo.

Hei hi eng enkawlna nge ni?

Kan sawi tawh ang khan vanduaithlak takin Miller-Decker syndrome hi damdawi a awm lo . Hei hi nun tikhawtlai thei dinhmun a ni. Enkawlna hian natna lan chhuahna (symptoms) te, seizure ang chi control leh naupang chu a nuam thei ang bera siam a tum ber a ni. Ei harsat avangin naupang thenkhat chu tube (tube feeding / enteral nutrition) hmanga chaw pek a ngai mai thei .

I fain he natna hi a neih chuan eng nge i tih theih ang?

Hetiang natna khirh tak, nunna tichhe thei naupang enkawl leh enkawl hi hna harsa tak a ni tak zet a ni . Lungkhamna nasa tak, lungkhamna, leh lungngaihna pawh i nei thei . Chuvang chuan i fa enkawl lai hian i taksa leh rilru hriselna i enkawl a pawimawh hle a ni .

Heng ang chi thil atang hian tanpuina i dawng thei ang:

• I fa mamawh puihna service, rehabilitation services, home healthcare, leh assistive devices te chu zawng rawh.
• Hetiang naupang nu leh pate nen support group-ah tel ve rawh. Mahni chauha awm lo turin a pui ang che a, midangte thil tawn a\angin i zir thei bawk ang.
• I fa dinhmun leh an natna lan chhuahna bik eng pawh zir rawh .
• Nangmah tan hun siam rawh . Chawlh la, i duhzawng thil ti rawh.
• Stress tihziaawmna tur kawng hrisel zawng rawh. Ṭhian nena kal dun emaw, hobby thar ṭan emaw ang chi thil a ni thei.
• Mental health professional nen inbiakna neihpui rawh . Hahdamna nasa tak a pe ang che.
• A tul chuan Doctor-in a tih angin antidepressant ang chi damdawi hmang thin ang che.

Miller-Decker syndrome hi a veng thei ang em?

A nihna takah chuan, chu chu Miller-Decker syndrome, chhan hriat loha lo awm nghal mai thin chu ven dan tur a awm tak tak lo tihna a ni.

Mahse, hetiang natna nei naupang i neih chuan, nangmah emaw, i kawppui emaw hian a hmaa kan sawi tawh ang khan chromosome 17-ah ‘balanced translocation’ in nei em tih hriat nan genetic test tih theih a ni a, chutiang ‘translocation’ nei nu leh pate chuan fa dang an neih chuan, chu naupang chuan Miller-Decker syndrome pawh a vei theihna chance chu pathum zinga pakhat vel a awm tlangpui .

Chuvangin, nang leh i kawppui nen hian genetic counselor nen in inhmuhkhawm a, he risk leh in duhthlan tur te hi in sawi dun a pawimawh hle.

Hetiang natna vei naupang hmalam hun chu eng nge ni?

Hei hi sawi a pawi tak zet a ni. Miller-Decker syndrome vei naupangte dam rei zawng hi a rei lo hle tlangpui . Naupang tam tak chuan seizure na tak an nei a, nunna atana hlauhawm thei a ni. A nih loh leh, rilru ruhte a chak loh avangin ‘aspiration pneumonia’ ang chi dinhmun a awm thei a, chutah chuan ei leh in chu lung chhungah a lut thei a ni. Hei hi a hlauhawm hle mai.

Naupang tam zawk hi kum 2 an tlin veleh an thi a, naupang thenkhat chu kum 10 thleng an dam thei. Mahse, an tleirawl lai thlenga dam khawchhuah hi a tlem hle.

Engtikah nge doctor i hmuh ang?

I fain heng symptoms te hi a neih chuan doctor pan nghal rawh:

• Developmental delays - i kum nena inmil thil i tih loh chuan.
• Thâwk harsa, ei leh in, ei harsa i neih chuan.
• Seizures i neih fo chuan .
• Taksa hmasawnna a slow hmel hle a nih chuan.
• Hmêl danglam tak emaw taksa lam thil danglam tak i hmuh chuan .

Doctor hnena zawh tur pawimawhte chu engte nge ni?

I fain Miller-Deeker syndrome a vei tih i hriat veleh doctor hnenah zawhna hetiang hi i zawt thei ang:

• Eng thilin nge ka fa hian Miller-Decker syndrome a neih chhan?
• Eng enkawlnate nge ka fate ṭanpui thei?
• In lama ka fate tanpui turin eng nge ka tih theih ang?
• Ka partner nen hian genetic testing kan nei tur em ni?
• Eng harsatna dang nge ka ngaihtuah tur?

A tawp berah chuan hre reng ang che

I fain hetiang natna khirh tak, nunna tichhe thei a neih hian, chu natna chungchang hre chiangtu specialist leh healthcare professional-te hnen atanga tanpuina dil a pawimawh hle . I doctor hian i fate natna lan chhuah dan tur a enkawl thei a, a hlim thei ang bera awm turin a pui thei bawk. He hun harsa tak karah hian i chhungte tanpui thei tur resources leh support services te nen pawh an inzawm tir thei bawk che a ni.

A theih ang angin in chhungte hun hman dun chu nuam ti takin hmang rawh u. Hmangaihna leh in thlawp tawn tawn rawh. I theihnghilh ngai loh tur hriatrengna mawi tak tak khawlkhawm tum ang che. He zinkawng hi nangmah chauha kal tum suh, tanpui thei tur che an tam hle.

` Miller-Dieker Syndrome, lissencephaly, thluak thanna, genetic natna, chromosome 17, naupang hriselna, hmasawnna tlai lutuk