I chhungte zingah Danon Disease nei an awm em? Kan sawi dawn nia!

Danon Disease chungchang hi i hre tawh em? He hming hi i tan chuan a thar deuh mai thei. Natna hmuh tur awm lo, genetic disease a ni a, mi tam tak a nghawng lo. Mahse fimkhur a phu hle a, a chhan chu thinlung, ruh, mit, leh thluak thlengin a nghawng thei a ni. Vawiin hian chipchiar takin sawi ila.

Danon Disease hi eng nge ni?

A awlsam zawngin sawi ila, Danon Disease hi kan genes hmanga kai theih natna hlauhawm tak a ni. Kan taksa peng hrang hrang a tichhe thei a, a bîk takin thinlung, taksa ruh, mit leh thluak te a tichhe thei a ni . Mahse, mi zawng zawngin symptoms inang an nei vek dawn lo, mi tin a inang lo.

Danon Disease hi natna pawl lian tak, ‘Lysosomal Storage Disorders’ (LSD) an tih zingah a tel a ni. He pawl hnuaiah hian natna chi hrang hrang 50 chuang a awm a. Ngaihtuah teh, kan cell chhungah hian factory te tak te ang chi ‘lysosomes’ an tih ang chi thenkhat a awm a. Chungte hnathawh ber chu cell chhunga thil tul lo leh bawlhhlawh lo chhuakte tihchhiat leh tihfai hi a ni. Kan in chhunga bawlhhlawh paih chhuah ang mai a ni.

Chuvangin, he ‘Lysosomal Storage Disorder’ vei cell te hian he hna hi an thawk tha thei lo. Chuti a nih chuan eng nge thleng? Chu thil duh loh, toxins te chu cell chhungah a awm khawm tan ta a ni. Hun a kal zel a, heng toxin khawlkhawmte hian cell te leh, chuta kaltlangin taksa peng hrang hrangte a tichhe vek a ni. Hei hi Danon natnaah chuan a thleng thin.

He natna hi rochun atanga lo piang a ni . Chumi awmzia chu nu leh pa atanga fate hnenah a kai darh tlangpui tihna a ni. A bik takin mipa naupangte hian he natna hi an vei tam zawk a, hmeichhe naupang aiin symptom na tak an nei tam zawk.

Danon Disease natna lan chhuah dan chu engte nge ni?

Danon Disease natna lan chhuahna hi mi hrang hrangah inang lo mah se, a lan chhuahna lian ber ber engemaw zat hmuh theih a awm a:

• Cardiomyopathy: Hei hi a lan chhuah hmasak ber a ni tlangpui. Chu chu rilru na emaw, tightness emaw, hahna, fluttering emaw chest-a pounding emaw a ni thei. A châng chuan thawk hah lo leh ke ruh a lo awm thei bawk.
• Muscle weakness (Myopathy): Ngaihtuah teh, chair-a ṭhut, kal harsa i nei a, i hnungzang, i kawr, i kekawrte, i kut chunglam emaw, i ke chunglam emaw-ah chak lohna i nei a ni. Naupang tê i nih chuan tlan leh inkhelh i ngaihven tawh lo thei a, stairs lawn pawh i harsat phah thei bawk. Hengte hi taksa ruh chak lohna chhinchhiahna a ni.
• Mit lama harsatna (Retinopathy): Hei hian mit a ti fiah lo thei a, mit a ti tla thei a, êng a ti eng thei bawk. Hei hian lehkha chhiar emaw, TV en emaw a ti harsa thei hle.
• Thiamna lama harsatna: Hengte hi mipa naupangah a tam zawk. Nungchang lama harsatna, mi dangte bula awm laia nungchang inthlak danglamna, leh tawngkam emaw, tawng emaw tihkhawtlai tlangpui te hi a awm fo thin. A tlem hle nachungin rilru lam harsatna pawh a awm thei bawk. Entirnan, sikul hnathawhnaah ngaihtuahna seng harsa leh thil thar zir slow lutuk te hi a ni.

Gender hian engtin nge a nghawng

Mipa naupangteah chuan natna lan chhuahna chu an naupan lai aṭangin a lang ṭan tlangpui a, chu chu naupan lai emaw, tleirawl lai emaw a ni . Tin, heng symptoms te hi a lo thang chak hle a, a na hle bawk.

Mahse hmeichhe naupang i en hian a chang chuan symptoms a awm lo thei. A nih loh leh, tleirawl hnu lam emaw, puitlin hma emaw-ah natna lan chhuahna a lang thei bawk. Hmeichhiaah hian symptoms hi a lo lang zawi zawk a, a na lo zawk fo bawk. Mahse, a then phei chuan an na thei tih hriat reng a pawimawh.

Cardiomyopathy chi hrang hrang

Danon Disease-ah hian cardiomyopathy chi hnih hmuh tur a awm a, chungte chu:

• Hypertrophic Cardiomyopathy: Hei hi a tam ber a ni. A awlsam zawngin, heart muscle thickening danglam tak a ni.
• Dilated Cardiomyopathy: Hei hi hmeichhiaah a tam zawk. Hei hi heart chamber te a lian a, thinlung a chak lo na hmun a ni.

Danon Disease hi engte nge ni?

Danon Disease thlentu ber chu `LAMP2` tih gene bik pakhata inthlak danglamna, a nih loh leh mutations a ni. I hriat angin kan taksaa thil awm zawng zawng hi gene-in a thunun vek a ni. Computer-a software ang bawkin heng genes te hian kan taksa hnathawh dan tur pawh an zirtir bawk.

Chuvangin, zirchiangtute chuan he `LAMP2` gene-ah hian inthlak danglamna a awm hian ka sawi tawh ang khan cell part lysosome an tih wall emaw membrane emaw-ah harsatna engemaw zat a awm niin an ngai. Mahse, he natna hi a lo awm dan dik tak hi za zela 100-a chiang taka hriat chian a la ni lo. Chumi chungchangah chuan zirchianna a la kal zel a ni.

Danon Disease hi engtin nge an hriat theih?

Nangmah emaw i doctor emaw chuan Danon Disease symptoms i hmuh chuan an ringhlel mai thei. Chumi hnuah chuan i doctor chuan i symptoms te chu a zawt ang che. Hei bakah hian Danon Disease finfiah nan test eng emaw zat an nei dawn a, condition dang pawh an paih chhuak dawn bawk.

A bik takin DNA testing (genetic testing) hian he natna hi a hriat theih nan a pui thin. Hei hian `LAMP2` gene-ah hian mutation a awm leh awm loh dik takin a hre thei a ni.

I natna lan chhuah dan azirin i doctor chuan test dang neih belh a rawt thei bawk. Entir nan:

• Thisen test (Laboratory (thisen) hnathawh).
• Mit enfiahna a ni.
• Ultrasound hmanga tih a ni.
• CT scan (computed tomography scan) hmanga enfiah a ni.
• MRI (magnetic resonance imaging) hmanga enfiah a ni.
• Skeletal muscle biopsy ( taksa peng te tak te lak a, enfiah a ni).

Thinlung hian engtiang chiahin nge a thawh that tih hriat nan heart test bik a awm bawk:

• Heart biopsy - cardiac biopsy (thinlung hmun te tak te enfiah nan lak).
• Lung lam MRI.
• ECG (Electrocardiogram - EKG) test (thinlung electrical activity record) a ni.

Danon Disease nen hian eng natna dang nge inang?

Damdawi lam harsatna thenkhat chu Danon Disease nen hian a lan chhuah dan a inang deuh thei bawk. Chuvangin diagnosis dik tak neih a pawimawh hle. Natna tlemte, a lan chhuah dan inang deuhte chu hetiang hi a ni:

• Thinlung natna (congenital glycogen storage disease) (GSD) a ni.
• Nausen autophagic vacuolar myopathy a awm a, chu chu a natna a ni.
• Cardiomyopathy dang, entirnan sarcomeric hypertrophic cardiomyopathy emaw dilated cardiomyopathy emaw te pawh a awm thei.
• Pompe natna a ni.
• Wolff-Parkinson-White (WPW) syndrome – Hei hi Danon natna nen pawh hmuh dun theih a ni.
• X-linked myopathy leh autophagy tam lutuk.

Hei hi a buaithlak deuhin a lang thei a, mahse doctor-te chuan heng zawng zawng hi an ngaihtuah a, diagnosis dik tak an thleng ta a ni.

Danon Disease enkawlna tur engte nge ni?

Danon Disease enkawl dan chu i natna lan chhuah dan leh a nasat danah a innghat. I medical team chuan i tan a tha ber tur treatment plan siam turin an thawk ho ang che. Hei hian a huam thei ang:

• Ṭanpuitu hmanrua: Entîr nân, mittui tlakna emaw, mit hmuhna hmanrua dang emaw, hriatna hmanrua emaw, kea kalna emaw, wheelchair emaw hmangin.
• Psychotherapy - thusawi hmanga enkawlna emaw, thusawi hmanga enkawlna emaw.
• Zirna lama harsatna nei an awm chuan zirna lama puihna a awm bawk.
• Physical therapy hmanga taksa ruh tichaktu.

Lung lama harsatna nei tan chuan i specialist chuan hetiang hi a rawn rawt thei ang:

• Heart rhythm mumal lo (arrhythmia) enkawlna atan hian implantable cardioverter defibrillator (ICD) hman a ni.Hei hian heartbeat a tidanglam nghal a nih chuan siamthat theih a ni.
• Nitin i thinlung hnathawh dan record turin Holter monitor.
• Lung lama harsatna, a bik takin cardiomyopathy control nana damdawi.
• Heart rhythm mumal lo enkawlna atana ablation therapy ang chi enkawlna.

Cardiomyopathy a zual thuai chuan heart transplant a ngai mai thei. Nunna atana hlauhawm harsatna, cardiac death rang tak leh heart failure early-onset heart failure te ven nan a hmaa hriatchhuah leh enkawl hi a pawimawh hle

Ka treatment team-ah hian tute nge tel thei ang?

Danon Disease enkawl hian doctor pakhat chauh a tawk lo. Specialist team a mamawh a ni. Heng specialist te hian i Primary Care Provider (PCP) te nen thawk hovin an pui thin che a ni. I team-ah hian:

• Cardiologist: Thinlung leh thisen kalna kawng hrang hranga mithiam tak a ni.
• Mit enkawltu specialist / Ophthalmologist: Mit kaihhnawih harsatna nei tan.
• Geneticist: Genetics lama tui tak.
• Neurologist: Doctor , thluak, ruhro leh nerve lama tui tak a ni.
• Neuromuscular expert: Taksa leh nerve lama mithiam tak a ni.

I hriselna dinhmun leh side effect i tawn dan azirin he medical team hian i damdawi leh enkawlna te chu an enfiah ang a, a tul anga tihdanglamna an nei ang.

Danon Disease hi tihdam theih a ni em?

Vanduaithlak takin Danon Disease hi damdawi a la awm lo. Mahse, i doctor chuan i natna lan chhuah dan control thei tur leh i hriselna leh nunphung sang ber a vawng reng thei tur enkawlna a rawt thei a ni. Chuvangin a pawimawh ber chu i doctor thurawn zawm tur a ni a, hlauthawng lova.

Danon Disease hi eng nge a nih?

Danon Disease, chu chu natnain a nghawng dan tur thlirna chu thil engemaw zatah a innghat a ni. Chung zingah chuan i natna lan chhuah dan te, a nasat dan te, natna a zual chak dan te a tel. I doctor chuan i dinhmun bik chungchangah thurawn a pe thei ber che a ni.

Danon Natna leh Nun chhung zawng

A vaiin Danon Disease vei mipa dam rei zawng hi kum 19 vel a ni a, hmeichhia dam rei zawng chu kum 34 vel a ni. Mi tam tak chuan heart transplant an mamawh a ni. Heng statistics te hi i hmuh hian hlauthawng tih hi thil awmdan pangngai a ni. Mahse, hengte hi averages chauh a ni tih hre reng ang che. Mi zawng zawng hi kan danglam vek.

I medical team te chuan i symptoms te enkawl turin an thawk ho ang che. Tin, nang leh i chhungte’n i mamawh ṭanpuina i hmuh theihna tur hmunte pawh an zirtir bawk ang che.

Ka fain Danon Disease a vei theihna tur chu ka tihtlem thei ang em?

Danon Disease hi genetic mutation avanga lo awm a ni. Chuvang chuan i fain natna a vei theihna tur tihziaawmna tur engmah a awm lo. I chhungkuaa mi pakhatin Danon Disease a vei a nih chuan naupai laiin tih theih tur prenatal genetic testing chungchang doctor nen inbiakna neih a tha

Danon Disease hi tuin nge hmuchhuak hmasa ber?

He natna hi kum 1981 khan American neurologist Maurice Danon, MD chuan a lo sawi tawh a ni. Heng thutlukna hi damlo naupang pahnih, rilru lama harsatna nei, thinlung lian (cardiomegaly), leh taksa chak lohna (proximal myopathy) nei te a enfiah hnuah a siam a ni.

Hetiang genetic condition hmuh tur awm lo tak i nei tih hriat hi thil harsa tak leh buaithlak tak a ni thei. Hetiang dinhmun hi i nunpui tan tirh hian nitin ei tum ang che. I medical team, ṭhiante leh chhungte hnen aṭangin ṭanpuina dawng rawh. Hetiang dinhmun hi a tlem em avangin midangte hnenah pawh i hrilh a ngai mai thei. Online-ah pawh hetiang dinhmuna ding mi dang hmuh a harsa thei hle. Mahse, natna dang emaw, thinlung lam natna dang emaw nei damlo leh chhungkaw inzawmkhawmna pawlah tanpuina i hmu thei a ni.

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

Danon Disease hi natna khirh tak a ni. Mahse, hengte hi hre reng ang che:

• Danon Disease hi genetic natna a ni. Tu sual vang a ni lo.
• Mi zawng zawng tan symptoms a inang vek lo. Hmeichhia leh mipa inthlauhna a awm.
• Natna hi hriat hmasak a, enkawl tan a pawimawh hle. Hei hian harsatna a tihziaawm thei a ni.
• He natna hi tihdam kim theih ni lo mah se, a natna lan chhuah dan thunun thei tur enkawlna a awm.
• Nangmah chauh i ni lo. I tanpui turin medical team thiam tak tak, chhungkua leh support group te an awm a ni.
• Chhungkaw tan genetic counselling hi a pawimawh hle thei a ni.

I doctor-te’n an rawtna anga enkawlnate zawm a, an kaihhruaina hnuaiah nun ṭha ber i hmang thei a ni. He thu hi i tan a \angkai ngei kan beisei.

`Danon natna, Danon natna, genetic disease, thinlung natna, Cardiomyopathy, taksa ruh chak lohna, Lysosomal Storage Disorder, LAMP2 gene