I naute hian heng symptoms te hi a nei em? Leigh Syndrome chungchang hi han sawi ila!

Nausen piang thar hmuh hi a nuam em em a ni lawm ni? Mahse a chang chuan a tir lamah chuan hrisel angin lang mah se, thla engemaw zat hnuah chuan natna mak tak tak an lantir tan thei a ni. Nu hnute pek harsatna an neih emaw, an tap nasa emaw, an seizure an neih chuan hengte hi Leigh Syndrome an tih, genetic condition hmuh tur awm lo tak chhinchhiahna a ni thei. Hei hi thinlung ti na tak a ni a, mahse hriat chian a pawimawh hle.

Leigh Syndrome hi eng nge ni? A awlsam zawngin...

Leigh Syndrome, Leigh’s Disease tia hriat bawk hi genetic condition hmuh tur awm lo tak a ni. I naute central nervous system a nghawng ber a ni. Chu chu thluak, ruhro leh nerve te a ni. Hetiang natna vei naute hi a pian tirh hian a tam zawkah chuan hrisel takin a lang thin tih han ngaihtuah teh. Mahse, hun a kal zel a, a nervous system-a cell-te chu zawi zawiin an chak lo va, an thi hial a ni.

Heng symptoms te hi naute thla 3 vel a nih atang emaw, kum 2 a tlin hmain emaw a intan tlangpui a, i hriat hmasak ber tur chu hnute ei harsatna, ei duh loh, chhan awm lova tap, leh seizures te hi a ni.

Vanduaithlak takin Lee syndrome hi damdawi nghet tak a awm lo. Nunna atana hlauhawm tak a ni. Hetiang natna vei naupang tam zawk hi kum 3 an tlin hmain an thi a, mahse, a tlem hle a, puitling naupang emaw, puitling upa zawk emaw zingah he natna hi a awm thei.

Mitochondrial Diseases hi eng nge ni? Kan taksa chakna siamna factory te!

Hei hi hrethiam tur chuan mitochondria chungchang tlem kan hriat hmasak a ngai a ni. A awlsam zawngin, mitochondria hi kan taksa cell chhunga energy factory te tak te ang mai a ni. Hengte hi kan eitur a fatty acid leh glucose atanga chakna siam chhuakin adenosine triphosphate (ATP) an tih thilah a chantir thin a ni. He ATP hi kan cell te hnathawh theihna tur chakna petu a ni.

Mitochondria hi kan thisen sen tih loh chu cell tinah a awm a. Mitochondrial natna hi heng mitochondria te hian hna an thawk tha lo a nih chuan a awm thin. Cell-te hian an mamawh chakna an hmu lo va, chu chuan cell-te chu a tichhe emaw, a thi emaw a ni.

Kan nervous system hian a hnathawh theih nan chakna tam tak a mamawh a. Lee syndrome-ah chuan naupang nervous system-a cell awmte, a bik takin thluak, nerve leh spinal cord-a chakna petu cell-te chu a chhe emaw, a chhe emaw a ni.

Leigh Syndrome tih hming dang a awm em?

Ni e, he natna hi British doctor Archibald Denis Leigh-a’n a hming a vuah hmasa ber a, kum 1951 khan a sawi a , Subacute Necrotizing Encephalomyelopathy (SNE) tiin a vuah a ni.Encephalomyelopathy natna a ni a, thluak leh ruhro (spinal cord) a tichhe thei a ni. Mahse, tunlai doctor tam tak chuan Lee syndrome emaw Lee disease emaw an ti a.

Leigh Syndrome chi hrang hrangte chu engte nge ni?

Lee syndrome hi chi hrang hrang a awm a, chungte chu:

• Infantile Leigh Syndrome: Hei hi a tam ber a ni. Naupang kum 2 a tlin hmain symptoms a lang thin. Hei hi Classical Leigh Syndrome an ti bawk. Hmeichhia leh mipa a nghawng dan a inang vek.
• Adult-onset Lee syndrome: Kum 2 hnuah a lan chhuah dan a lang a, a then chu tleirawl lai emaw, puitling hma emaw a ni. Hei hi a tlem hle. Hetiang chi hian mipa a nghawng tam zawk. Tin, natna hi a bul tan tirh chi aiin a zual zawi zawk bawk.
• Leigh-like syndrome: Hetiang a nih chuan mi pakhatin Leigh syndrome chhinchhiahna thenkhat a lantir thei a, mahse imaging scan-ah chuan thluaka natna lanchhuahna a lang lo.

He natna hi engtiang chiahin nge a hluar?

Classical (early) Lee syndrome hi khawvel puma nau piang thar 40,000 zinga pakhat vel ah a awm nia chhut a ni. Mahse, hmun thenkhatah chuan a tam zawk. Entir nan:

• Canada ram Quebec-a Lac-Saint-Jean biala nau piang thar 2,000 zinga pakhat.
• Iceland leh Scotland inkara awm Faroe Islands-a nau piang thar 1,700 zinga pakhat.

A chhan dik tak erawh hriat a la ni lo.

Eng thilin nge Leigh Syndrome hi a thlen?

Mithiamte chuan Lee syndrome hi gene 75 chuang mutations vang a ni thei tih an hmuchhuak a . Heng mutations te hian kan taksain ATP (energy) a siam chhuah theihna a nghawng a ni.

Lee syndrome vei naupang 10 zinga pariat chuan kawng lian pahnih hmangin he natna hi an rochun a ni:

1. Autosomal recessive disorder: Hemiah hian naupang hian nu leh pa pahnih hnen atangin gene mutation inang a rochun a. Nu leh pa te hi he mutation kengtu chauh an ni a, natna hi an nei lo.

2. X-linked recessive genetic disorder: Hei hi X chromosome-a mutation awm vang a ni. Nu emaw, pa emaw a\angin a lo chhuak thei a ni. Nu pakhatin a X chromosome pakhatah he mutation hi a neih chuan a fapa emaw a fanu emaw pawhin he mutation hi an rochun theihna chance 4 zinga 1 a awm a ni. Mipa naupangin he mutation hi a rochun chuan Lee syndrome a nei ang; nula chuan a ti lo vang. Mahse, a fanu chuan a gene chhia chu a nakin lawka a fate hnenah a pe chhuak thei a ni. Pa chuan mutated X chromosome chu a fanu hnenah a pe thei a, mahse a fapa hnenah erawh a pe lo.

Engtin nge mitochondrial DNA inthlak danglamna hian Lee syndrome a thlen?

Naupang 10 zinga 2 velin mitochondrial DNA (mtDNA) an nei a ni.Gene-a mutation awm chu nu atanga rochun a ni. He mutation hi mipa leh hmeichhiaah pawh a kai thei a ni. Chumi hnuah chuan chhungkaw thlah zawng zawng a nghawng thei a ni. A tlem berah chuan spontaneous mtDNA mutation a awm thei. Leigh syndrome-a mtDNA mutation hmuh tam ber chu `MT-ATP6` gene-in `ATP` a siam chhuah theih lohna tur a ni.

Leigh Syndrome natna lan chhuah dan chu engte nge ni?

Lee syndrome symptoms hi naute dam chhung kum hnih hmasa berah a lang tlangpui. A tirah chuan i naute chuan a lo ṭhan chhoh dan pangngai, a lu ding nghet taka vawn ang chite chu a thleng thei a ni. Tichuan, zawi zawiin an kir leh a, chu chu heng theihnate hi an hloh emaw, taksa emaw, hmasawnna lama tihkhawtlai emaw an lantir tihna a ni.

Lee syndrome lan chhuah hmasak ber chu:

• Chaw ei harsa ( dysphagia ), hnute ei tha lo emaw ei leh in lama harsatna nei.
• Diarrhea leh luak chhuak.
• Muscle tone tlakchham ( hypotonia ).
• Hahdam lo fo leh tap fo thin.
• Lu control leh reflexes lama chak lohna.

Natna a zual zel chuan symptom dang a lo lang thei bawk. Heng symptoms te hi Lee syndrome hnuhnung zawkah pawh hmuh theih a ni. Chung zingah chuan:

• Dementia ang chi dinhmun .
• Movement leh balance lama harsatna, entirnan ataxia (kal laiin tlu, balance hloh).
• Thumal dik taka sawi harsa ( dysarthria ).
• A duh loh zawnga taksa ruh inzawm ( dystonia ).
• Muscle inher emaw, a nghet lo emaw ( spasticity ).
• A then chu paralysis a ni.
• Kawng leh ke ruh chhunga nerve chak lohna ( peripheral neuropathy ).
• Convulsions a awm thin.
• Taksa thanlenna slow.

Engtin nge Leigh Syndrome hian mit hmuhna a nghawng?

Lee syndrome hian mit chhunga nerve te pawh a nghawng thei a, harsatna a thlen thei a, chungte chu:

• Mit inzawm ( strabismus ).
• Mit nerve atrophy ( mit chak lohna ( optic atrophy ).
• Mit chak lohna emaw, mit chak lohna emaw.
• A duh loh zawnga mit chet chak ( nystagmus ).
• Mit hmuhna hloh.

A hnu lamah chuan Lee syndrome vei thalai emaw puitling emaw chuan colour blindness leh central vision hloh ( low vision ) an nei thei a ni.

Leigh Syndrome natna avanga harsatna awm thei te chu engte nge ni?

Lactic acidosis hi Lee syndrome vangin naupang thisenah lactic acid a awm khawm vang a ni.Hei hi a thleng thei a ni. Kan taksa hian cell-a oxygen level a hniam lutuk avangin an metabolism (carbohydrates chu energy-ah a chantir) a pui thei lo a nih chuan lactic acid a siam chhuak thin. Tin, an thisena carbon dioxide awm zat pawh a pung thei bawk.

Lactic acidosis leh carbon dioxide level sang hian a hnuaia mite hi a thlen thei a ni.

• Thâwk harsa: thawk hah ( dyspnea ), thawk hah rei lo ( apnea ), leh thawk dan pangngai lo emaw, thawk rang emaw ( hyperventilation ).
• Lung natna: thinlung ruh a thim ( hypertrophic cardiomyopathy ).
• Kidney lama harsatna nei.

Engtin nge Leigh Syndrome hi hmuhchhuah a nih?

I doctor chuan hetiang test hi a order thei ang:

• Thisen test: Lactic acidosis leh Leigh syndrome hriat theihna enzyme marker awm leh awm loh enfiah thin ang che.
• Imaging test MRI (Magnetic Resonance Imaging) scan ang chi: Thluak tissue (lesion) a chhiat leh chhiat loh enfiah thin.
• Genetic test: Eng genetic mutation nge natna thlentu tih chiang taka hriat nan.

Leigh Syndrome hi engtin nge enkawl a nih?

Vanduaithlak takin Lee syndrome hi damdawi nghet tak a awm lo. Enkawlna hian a natna lan chhuah dan control leh naupang thlamuanna pek a tum ber a ni. Hei hi natna hlauhawm tak a ni.

I fa chuan:

• Lactic acidosis hi citric acid (sodium citrate) emaw sodium bicarbonate emaw hmangin enkawl rawh .
• Natna zual zel tur titawp turin thiamine (Vitamin B1) injection pek.

Naupang enzyme tlakchhamna nei thenkhat chuan thau tamna, carbohydrate tlem ei hian hlawkna an hmu thei a ni. Naupang thenkhat ei harsatna nei te chu tube (`enteral nutrition`) hmanga chaw pek a ngai mai thei.

I fain Leigh Syndrome a neih chuan eng nge i tih theih ang?

Nunna tichhe thei natna nei naupang enkawl chu thil harsa tak a ni thei. Hetih hun chhunga i rilru hahna, lungkhamna leh lungngaihna tihziaawmna tura i tih theih ṭhenkhat chu hetiang hi a ni:

• Stress tihziaawmna tur kawng hrisel zawng rawh: i ṭhian nena inbiakna emaw, i hobby nuam tihna emaw ang chi.
• Support group-a tel: Hei hi in-person emaw online group emaw a ni thei. Nu leh pa dangte nêna inbiakna chuan mahni chauha awm lo tûrin a ṭanpui thei che a ni.
• I fa dinhmun te, an natna lan chhuah dan danglam tak te, leh natna a lo zual zel dan te chu hre chiang rawh.
• Nangmah tan hun siam rawh.I fa chu i dam that phawt chuan i enkawl tha thei ang.
• I fa mamawh puihna service te la rawh: in lama hriselna enkawlna leh rehabilitation service te ang chi.
• Mental health professional nen inbiakna neihpui rawh . Hei hi hun harsa tak a nih avangin tanpuina dil hreh suh.

Leigh Syndrome vei hmalam hun chu eng nge ni?

Lee syndrome vei naupang tam zawk chu kum 3 an tlin veleh thawkna lama harsatna vangin an thi a, Lee syndrome natna vei tan chuan puitling thlenga dam khawchhuah hi a tlem hle. Puitlingah Lee syndrome vei te chu kum 50 vel an dam thei a ni.

Leigh Syndrome hi ven theih a ni em?

Lee syndrome vei naupang i neih chuan nangmah emaw i kawppui emaw hian a thlentu gene mutation an nei em tih hriat nan genetic test i nei thei ang. Nakin lawka naupangte’n mutation an rochun theihna tur tihtlem dan tur sawiho turin genetic counselor nen inhmuhkhawm i tum mai thei.

Engtikah nge doctor i hmuh ang?

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

• Hmasawnna tlai emaw, a hmaa theihna awmsa hloh emaw.
• Thâwk harsa, ei leh in, ei harsa.
• Convulsions a awm thin.
• Taksa thanlenna slow.

Ka doctor hnenah eng nge ka zawh ang?

I doctor hnenah hetiang zawhna hi i zawt thei ang:

• Eng thilin nge ka fa hian Lee 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?
• Complication chhinchhiahna ka hriat tur em ni?

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

I fain chutiang natna hmuh tur awm lo, nunna atana hlauhawm tak a nei tih i hriat chuan rilru hah leh lungngaihna i neih chu thil pangngai a ni . Mahse, nangmah chauh i ni lo tih hre reng ang che. Hetiang dinhmunah hian doctor thiamna nei te hnen atanga enkawlna lak a pawimawh hle. Lee syndrome hian i fa taksa peng hrang hrang tam tak, thluak, mit, thinlung leh kal te a nghawng theih avangin specialist hrang hrang engemaw zat i pan a ngai mai thei.

Heng doctor te hian i symptoms te enkawl turin an pui thei che a, nang leh i naute mamawh support services te nen an inzawm tir thei bawk che a ni. Tichuan i naute nena in hun hman chu a theih ang anga nuam i ti thei ang. He zinkawng hi a harsa a, mahse hmangaihna, thlawpna leh damdawi lam thurawn dik tak i neih chuan he harsatna hmachhawn turin chakna i nei ang.

leigh syndrome, mitochondrial natna, genetic disorder, naupang hriselna, hmasawnna tlai, nervous system, etc