I naute chu a hrual nghal a, a nghet lo em ni? He hyperekplexia chungchang hi i zir dawn teh ang!

I nau piang thar emaw, naupang tê tê emaw chu thawm emaw, khawih emaw pawh hian a mangang nghal em? A nghet lo va, lungpuiin a rawn deng ang maiin a inhria em? Thâwk a la harsa deuh tih a hria em? Hetiang thil hi i lo hmu tawh a nih chuan Hyperekplexia tih hming pu condition a ni thei. Ngaihtuah buai suh, chipchiar takin kan sawi dawn nia.

He hyperekplexia hi eng nge ni?

A awlsam zawngin Hyperekplexia hi neurological condition a awm lo hle. Hei hi i naute ruhte a nghet lutuk (damdawi lamah chuan Hypertonia'' an tih) a ni. Chuvangin, an taksa ruhte chu uluk taka tihchet harsa an ti hle.

Chu bâkah, heng naupangte hian thil thleng rang tak, beisei loh thil (thawm, khawih, a nih loh leh chetna ang chi) avânga mak tihna nasa tak an lantîr bawk. He startle hian taksa a ti na thei a, mit a ti chhe thei bawk. He shock hnu hian naute taksa chu rei vak lo a rigid a, an che thei lo. A hlauhawm ber chu naute thenkhatin he hun lai hian thawk an chawlhsan mai thei. Hetianga a kal zel chuan nunna atana hlauhawm a ni thei. A châng chuan he natna hi Sudden Infant Death Syndrome (SIDS) nen a inzawm thei bawk.

Doctor-te chuan he natna hi nau piang tharah an hmu tlangpui a, nau piang hma emaw, nau piang hnu emaw pawhin an hmu tlangpui. Mahse, he natna hi hyperekplexia an tih hi naupang leh puitlingah pawh a awm thei a ni.

He natna hi hming dang engemaw zat a awm bawk:

• Congenital stiff-person syndrome ((Pianpui stiff-person syndrome)) a ni a, a rilru a buai em em bawk a.
• Hereditary hyperekplexia ((Hereditary hyperekplexia)) atanga lo piang chhuak a ni.
• Startle natna a ni
• Startle syndrome ((Startle natna)) tih a ni.
• Nausen khauh tak (stiff-baby syndrome) a ni

Hetiang dinhmun hi engtiang chiahin nge a awm?

Hei hi a takah chuan a tlem hle. Ngaihtuah teh, America ang ramah pawh hian he dinhmun hi mi 40,000 zinga pakhat velin hmuh a ni. Chuvangin hei hi Sri Lanka ramah pawh hmuh tur awm lo tak a ni.

Hyperekplexia natna lan chhuah dan chu engte nge ni?

He dinhmun hi chi hnih a awm a, chungte chu Major form leh Minor form te an ni.

Major mode a ni

Hei hi rang taka, beisei loh taka i khawih emaw, i che emaw, i ri emaw avanga thil danglam tak i tiharh hian a ni. I mangang chuan i lu chu hnunglam a hawi tih i hre thei a, i taksa chu a inher a, thil danglam tak a ti thei a, i taksa chu a nghet lo va, lung ang maiin leiah a tla thla thei bawk.

Naute a mut chuan jerking movement an nei thei. Tin, hypertonia hi naute he natna vei zingah hian a hluar hle bawk. Tin, an che zawi zawi thei bawk (hypokinesia an ti) a, rilru lama harsatna (mild intellectual disability) an nei thei bawk .

He hyperekplexia natna lian tak nei naute, naupang leh puitlingte zingah hian natna lan chhuah dan dangte chu:

• Hyperreflexia (reflexes tam lutuk) 1.1.
• Intermittent apnea (thâwk chhuah loh) .
• Unstable gait (a kal dan nghet lo) .
• Pian tirh atanga hip dislocation awm thin
• Inguinal hernia a awm thin.

Minor form a ni

Hetiang mild form-ah hian hyperekplexia vei te hian startle response an nei fo thin, a tam lutuk chauh a ni. Symptom dangte chu a tlem emaw, a awm lo emaw pawh a ni thei. Nausen-ah chuan khawsik an neih chuan an rilru a buai thei hle . Naupang leh puitlingah chuan, stress emaw, lungkhamna emaw avang hian twitching hi a nasa zual thei a ni .

He natna chi hnih hi pian tirh atangin a intan tlangpui a, mahse mi thenkhat tan chuan naupan lai emaw, puitling emaw a nih hnuah a lang tan thin.

Engvangin nge he hyperekplexia hi a lo awm?

Hei hi a chhan ber chu genetic mutations a ni. Hmuhchhuah tawh angin gene hrang hrang panga tal hian he hyperekplexia hi a thlen thei a ni. Heng genes te hi:

• ATAD1 tih a ni
• GLRA1 tih a ni
• GLRB tih a ni
• GPHN tih a ni
• SLC6A5 tih a ni

Heng genes te hian kan nerve cells (neurons)-a protein thenkhat siam chhuahna kawngah hmun pawimawh tak an chang a ni. Heng protein te hian kan taksa chhunga molecule pakhat glycine an tih chu nerve cells ten an chhan dan an thunun a ni. Glycine hi amino acid a ni a, chu chu protein siamtu a ni. Glycine hi neurotransmitter a ni bawk. Hei hi chemical pakhat a ni a, kan nervous system kaltlangin signal a thawn chhuak thin.

A tlangpuiin glycine hian muscle fibers stimulation a control thin. Mahse, a chunga kan sawi tak gene pakhatah hian genetic change (mutation) a awm chuan glycine hian nervous system a nghawng chu a tlahniam a ni. Tichuan, nerve cell-te chuan thunun theih lohvin thluak leh taksa ruhte hnenah thuchah an thawn a. Hei vang hian taksa ruhte hian an overreact tan a, hyperekplexia symptom dang pawh a lang chhuak thin.

He natna hi i rochun theih dan kawng hnih a awm a, Hyperekplexia:

1. Autosomal dominant takin.

2. Autosomal recessive angin.

Hengte hi genetic issues buaithlak deuh a nih avangin i doctor chuan hei hi a sawifiah belh thei ang.

Hetiang dinhmun hian eng harsatna nge a thlen?

Nausen piang tharte hian hyperekplexia an neih chuan an taksa a khauh a, hun engemaw chen chu che thei loin a awm thin tih kan sawi tawh a. He stiffening chhung hian naute thenkhat chuan thawk an titawp thei. Hei hi sudden infant death syndrome (SIDS) thlentu lian ber a ni. SIDS hi nausen kum khat hnuai lam sawifiah loha thihna thlentu lian ber a ni.

A tlem hle a, naute hyperekplexia nei te pawhin seizures ((Epilepsy)), a nih loh leh epileptic seizures kan tih ang chi hi an nei thei bawk.

Hyperekplexia symptoms hi kum khat an tlin chuan a reh tlangpui. Mahse, naupang leh puitling he natna vei te hian awlsam taka khuh leh rilru hahna episode an nei chhunzawm zel thei. Hei hian an tlu fo thei a ni. An upat deuh deuh chuan thawm ri nasa tak leh mipui tamna hmunte chu an tuar thiam lo thei a ni. Epilepsy vei te hian an dam chhungin seizures an nei thei.

Engtin nge hei hi i diagnose?

Hyperekplexia natna an hmuhchhuah hian doctor-te chuan a lan chhuah dan lian pathum an ngaihtuah a:

• Pian hnu lawkah taksa pum pui chu a nghet nghal vek .
• Beisei loh stimulus avanga exaggerated startle response .
• Hlauthawng a nih hnu chuan taksa pum pui chu rei lo te chhung chu a nghet ta hle mai .

Test pangngai – thisen test, zun test, thluak scan leh EEG-ah te hian result pangngai a lang vek. Mahse, genetic testing hmangin he natna nena inzawm genetic mutation panga te chu a hriat theih a ni.

Hyperekplexia hi damdawi a awm em?

Ni e, enkawl theih a ni! Naupang leh puitlingah phei chuan hyperekplexia enkawlna ber chu damdawi (Clonazepam) tih a ni a, hei hian lungkhamna a tiziaawm a, taksa ruh a tichak lo bawk. (Clonazepam) hi mild sedative a ni a, (Benzodiazepine) class-ah a tel a ni. Hyperekplexia symptoms, a bik takin muscle stiffness tihziaawmna a ni. Doctor-te chuan naupang tan ni khatah taksa rih zawng kilogram khatah 0.01 atanga 0.1 milligram an pe tlangpui a, puitling tan ni khatah 0.8 milligram an pe bawk.

I doctor chuan he natna enkawlna atan hian damdawi dang engemaw zat a pe thei bawk. Entir nan:

• Carbamazepine ((Carbamazepine)) a ni a, a man hi a to hle.
• Phenobarbitol ((Phenobarbital)) tih a ni.
• Phenytoin ((Phenytoin)) tih hi a awm a.
• Diazepam ((Diazepam)) tih a ni.
• A rilru a buai em em a, a rilru a hah em em bawk a.

Enkawlna dangte chu kea kal harsatna atana physical therapy leh lungkhamna tihziaawmna tur cognitive-behavioral therapy (CBT) te pawh a ni thei.

Hetiang dinhmunah hian hmalam hun eng nge awm ang? (Prognosis) tih a ni.

A tam zawkah chuan naute kum khat vel an tlin meuh chuan hyperekplexia symptoms hi a reh mai thin. Chu chu thu thlamuanthlak tak a ni tak zet a ni. Mahse, naupang leh puitlingah chuan he natna hian a nghawng chu dam chhung zawng a daih thei a ni. Mahse, a hmaa kan sawi tawh ang khan a natna lan chhuah dan thunun thei damdawi a awm.

Hei hi ven theih a ni em?

Hyperekplexia hi genetic condition a nih avangin ven theih a ni lo. I fain he natna hi a rochun dawn em tih i lungkham emaw, rinhlelhna i neih emaw chuan genetic counselor nena inbiakna neih a tha. Tichuan hemi chungchang hi hriatthiamna chiang tak i nei thei ang.

Engtin nge ka in enkawl ang? / Ka fa enkawl rawh?

Nang emaw i fa emaw hian hyperekplexia i nei a nih chuan i doctor-in damdawi a pek ang chiah leh a hun taka ei a pawimawh. I doctor chuan i dinhmun enkawlna tur tha ber ber a rawn rawt ang che. Heng damdawi te hian i symptoms control nan a pui tur a ni.

Engtikah nge Doctor ka hmuh ang?

I naute piang thar hian hyperekplexia a neih chuan a pian tirh atangin doctor chuan a hmu tlangpui ang. A châng chuan pian hma pawhin hriat theih a ni. Chutiang a nih chuan i naute doctor chuan a enkawl tan nghal ang.

Mahse, nangmah emaw i fa emaw hian sawifiah theih loha seizures i neih chuan doctor pan nghal a pawimawh a, he natna, hyperekplexia tia koh hi seizures thlentu a ni thei bawk.

Doctor hnenah eng zawhna nge ka zawh ang?

Nang emaw i fa emaw hian hyperekplexia i nei a nih chuan i doctor hnenah heng zawhnate hi zawh a tha ang:

• Engvângin nge hetiang dinhmun hi a lo awm? (Eng nge a chhan?)
• Eng enkawlna kawng nge i rawt?
• Ka fate hmalam hun atan Hyperekplexia hi an vei thei ang em?

A tawp berah chuan thil hriat reng tur

I nau piang thar hian Hyperekplexia a vei tih i hriat chuan lungngaihna leh mangang taka i awm hi thil pangngai a ni. Tuman an fate hrehawm tawrh lai hmuh an duh lo. Mahse nangmah emaw, i fa emaw hian he natna hi i vei a nih chuan nangmah chauh i ni lo tih hre reng ang che. I medical team te chu i tanpui turin an awm reng a ni. He natna lan chhuah dan tur enkawl nana pui turin enkawlna an pe ang che.

A pawimawh ber chu, i naute hian Hyperekplexia a vei a nih chuan, .Heng symptoms te hi an piancham hmasa ber an thlen hunah chuan a reh mai thei tih hre reng ang che. Chu chu thlamuanna ropui tak a ni lawm ni? Chuvângin, he dinhmun hi huaisen takin hmachhawn la, damdawi lam thurâwn zawm rawh.