Huntington natna hi eng nge ni? Thumal awlsam takin sawi ila

I chhungte emaw, i hriat emaw tu emaw chuan mak tak maiin a che tan nghal em? An taksa pengte chu thunun theih lohvin a inher chhuak mai thei em? A nih loh leh an hriatrengna chu zawi zawiin a bo a, an chakna hlui chu an hloh ta niin a lang em? Hetiang thil kan hmuh hian hlauhna kan nei hi thil pangngai a ni. Vawiin hian heng symptoms thlen thei, mahse khawtlang nunah sawi tam loh dinhmun kan sawi dawn a ni. Chu chu Huntington-a natna a ni . He hming i hriat hian hlauthawng suh. Engkim hi awlsam tak leh chiang takin sawi ila.

Okay, chuti a nih chuan Huntington’s Disease hi eng nge ni?

A awlsam zawngin, Huntington natna hi genetic disease a ni a, hun kal zelah kan thluaka nerve cell te chu a thi zauh zauh a, thlah khat atanga thlah dangah a darh zel a ni Kan chetna, ngaihtuahna leh nungchang thununtu thluak peng hrang hrangte a nghawng ber a ni.

Hei hian hun kal zelah motor thiamna, ngaihtuahna leh thutlukna siam theihna a tlahniam a, rilru lam harsatna, lungngaihna leh lungkhamna te a thlen theihna a tipung bawk.

A tlangpuiin, heng chhinchhiahnate hi kum 30 leh 40 inkarah a lang tan a, mahse, a châng chuan natna hi naupan lai emaw, puitling tleirawl emaw aṭangin a inṭan thei a, chu chu kum 20 an tlin hmain a ni.Chutiang a nih chuan Juvenile Huntington ’s Disease (JHD) kan ti a ni.

Engvangin nge he natna hi a lo awm? Engtin nge rochun a nih?

Hei hi kan gene pakhata chhiatna avanga lo awm a ni. Kum 1993 khan scientist-te chuan he thil thlentu gene hi an hmuchhuak a. He gene hi kan zavaiin a awm vek a ni. Mahse, chhungkaw thenkhat chuan he gene hi mutated copy an nei thei a ni. Chu mutated gene chu nu leh pa hnen atangin fate hnenah a kal chhuak thin.

I nu emaw, i pa emaw pawhin Huntington natna an vei tih han ngaihtuah teh. Chutiang a nih chuan natna thlentu mutation chu rochun theihna chance 50% i nei a ni. Coin flipping ang mai a ni. I hmu thei a, i hmu lo thei bawk.

• He mutant gene hi mipa leh hmeichhia thliar lovin rochun theih a ni.
• Mutated gene i neih loh chuan Huntington natna hi i nei ngai lovang. Tin, natna chu i fate hnenah i kai lovang.
• He natna hian thlah kal zel a skip lo . Chu chu pain a neih chuan a pa tel lo chuan fapain a tipung thei lo tihna a ni.

He gene hi dominant nge recessive?

A awlsam khawp mai. Gene pahnih, i nu atanga pakhat leh i pa atanga lo chhuak pakhat i nei niin han ngaihtuah teh. ‘Dominant’ gene chu class-a naupang fing ber ang mai a ni. A awm a nih chuan a thiltihtheihna chu a inkhelh lai a ni. Huntington natna thlentu mutant gene pawh hi a lian ber a ni . Chuvangin nu leh pa pakhat chauh atanga mutant gene i hmuh pawhin natna thlentu atan a tawk.

Nangmah emaw, i chhungte zinga tu emaw chuan genetic testing hi i ngaihtuah a nih chuan genetic counseling lak hmasak a pawimawh. Test result atanga i beisei tur chu an hrilhfiah thei che a ni.

Huntington natna lan chhuah dan chu engte nge ni?

Huntington natna lan chhuah dan hi chi thum ah then theih a ni: motor skills, cognitive function, leh behavioral . Heng symptoms te hi vawi khatah a lang vek lo va, stage engemaw zatah zawi zawiin a lo lang chhuak thin.

Late-Stage-a natna lan chhuah dan

Hetiang dinhmunah hian damlo chuan hna thawk tur chuan midangte tanpuina a mamawh a ni. Kal leh thusawi chu a tawp vek mai thei. Mahse, hetiang dinhmunah pawh hian damlo chuan an hmangaih tak takte chu a hre thei fo thin.

He natna hi engtin nge kan hriat theih ang?

Symptoms i neih chuan i doctor chuan i chhungkaw medical history a zawt ang a, physical exam a ti ang. Chumi hnuah chuan neurological test thenkhat leh genetic test an order mai a rinawm. Neurological test-ah chuan:

• Reflexes (Reflexes) te
• Muscle chakna
• Inbuktawk
• Hmuh theihna leh hriatna
• Mood leh rilru dinhmun
• Hriatrengna leh ngaihtuahna seng thiam

Enkawl dan leh enkawl dan

Hei hi damdawi tluantling la awm lo mah se, a natna lan chhuah dan thunun thei leh nun ti awlsam thei tur enkawlna tam tak a awm. Doctor-te'n "I nunah kum kan belh thei lo va, mahse i kumte hi nunna kan belhchhah thei a ni," an tih hi engmah lo mai a ni lo.

A pawimawh ber chu field hrang hrang atanga specialist team te tanpuina lak hi a ni. He team-ah hian neurologist, physical therapist, occupational therapist, speech therapist, psychiatrist, leh nutritionist te pawh an tel thei.

Damdawi chi hrang hrang

• Motion control tur chuan:VMAT2 inhibitor class atanga damdawi (e.g. Deutetrabenazine, Tetrabenazine) te hi control loh taka chetna (chorea) tihziaawmna atan hman a ni.
• Rilru lama harsatna nei tan: Depression, lungkhamna leh mood swing dangte control nan antidepressant leh mood stabilizer hrang hrang an pe thin.

Therapy hmanga enkawl a ni

• Physical Therapy: Kal chakna, balance leh taksa chakna tihchangtlunna hmangin tlu tihtlem nan a pui thin.
• Occupational Therapy: Nitin hna ei leh in leh incheina te awlsam zawka siam theihna tur technique leh hmanrua te a zirtir thin.
• Speech Therapy: Thusawi leh ei harsatnaah a pui thin.

Nunphung leh ei leh in lama inthlak danglamna

He natna vei te hian an taksain calorie tam tak a hal a, ei harsa a tih avangin an thau a tlahniam thei a ni. Chuvangin, ei tur tha tak tak, calorie tamna ei a pawimawh . Chhungkaw member-te chuan hetiang hian an pui thei ang:

• Chaw ei laiin a tul lo taka tihbuai loh tur.
• Chaw ei leh ei awlsam tur thlang rawh.
• A bik taka siam cutlery leh cup straw nei hmang rawh.
• Exercise mumal pawh hi a pawimawh hle. Mahse himna lam i fimkhur a ngai a ni. Physics therapist tawnhriat ngah tak nen inbia la, i duh ang exercise plan siam rawh.

I doctor zawh tur zawhna

Nangmah emaw, chhungte emaw hian he natna hi i ngaihtuah a nih chuan, i doctor nena in inbiaknaah heng zawhnate hi i zawt thei ang:

• Doctor, he natna hian engtin nge ka nun a nghawng ang?
• Ka natna lan chhuah dan tur enkawlna tha ber berte chu engte nge ni?
• He enkawlna hi damdawi dang ka ei mek nen hian a inrem thei ang em?
• Ka tan chuan lirthei khalh chhunzawm zel hi a him em?
• Hemi chungchang hi engtin nge ka chhungte ka biak duh ang?