Familial Dysautonomia: Inherited nervous system disorder chungchang hi han sawi ila!

Kan taksaah hian thil thenkhat chu automatic-in a thleng a, kan hriat loh pawhin a thleng tih i hre ngai em? Ngaihtuah teh, thawk chhuah, chaw ei hmin, kan taksa lum leh vawt tihreh, chil chhuah, tap... Heng zawng zawng hi kan taksaah automatic-in a thleng vek a, chu chu kan ngaihtuah ngai lo tihna a ni. Mahse, heng automatic thilte control tu kan nervous system -ah chak lohna emaw, harsatna emaw a awm chuan eng nge thleng ang? Vawiin hian hetiang natna hlauhawm tak, mahse na tak, pianpui natna hi kan sawi dawn a ni. Hei hi Familial Dysautonomia (FD) an ti a.

Family Dysautonomia chu eng nge ni?

A awlsam zawngin sawi ila, familial dysautonomia (FD) hi pianpui natna a ni a, i nervous system a nghawng a ni. I taksa peng hrang hrang automatic process control tu te a nghawng ber a ni . Chu chu:

• Thâwk chhuah
• Chaw ei dan (digestion) a ni
• Mittui a rawn insiam
• Thisen sang leh taksa lumna tihreh
• Saliva siam chhuah dan

Hei bakah hian i sensitive nervous system pawh a nghawng bawk . Chumi awmzia chu:

• Tem
• Natna leh lumna laka sensitivity

Hetiang dinhmun hi nu leh pate hnen atanga an rochun gene mutation avanga lo awm a ni. He natna hi Familial Dysautonomia tia koh hi hetiang hian an sawi bawk:

• Riley-Day natna a ni
• HSAN type III atanga lo piang chhuak sensory leh autonomic neuropathy (Type III thlahtute hriatna leh autonomic neuropathy - HSAN type III)

Lungchhiatthlak takin he chhungkaw dysautonomia dinhmun hian naupangte hmasawnna a tikhawtlai thei a, an dam chhung pawh a ti tawi thei bawk.

He natna hi tuin nge vei tam zawk?

Familial Dysautonomia hian naupangin nu leh pa pahnih atanga gene tha lo a rochun a ngai a ni . Hei hi thil awm lo tak a ni. A bik takin Ashkenazi Juda hnam chhuakte zingah a awm fo thin . United States-a Ashkenazi Juda 10,000 zinga pakhat vel leh Israel-a mi 3,700 zinga pakhat vel chu he natna neia piang an nih thu an sawi. Chumi awmzia chu mi zawng zawng tuar thei natna a ni lo tihna a ni.

Hei hi eng nge a chhan?

Hei hi genes a mutations vang a ni . I nu leh pa pahnih hian ELP1 tih gene ah mutation an keng tel tur a ni. He ELP1 gene hian protein a siam a, chu chuan i nervous system a tichak a ni. Chuvangin, he gene-ah hian mutation, a nih loh leh tlakchhamna a awm chuan, nervous system hmun thenkhat hnathawhnaah harsatna a awm thin. A awlsam zawngin sawi ila, in sak laiin furniture pawimawh tak pakhat a bo chuan in pum pui chu a chhe vek ang.

Familial Dysautonomia (FD) natna lan chhuah dan chu engte nge ni?

Hetiang natna lan chhuah dan hi nausen lai atang hian a intan thin . A lan chhuah hmasak ber chu:

• Nausen hnute hnek harsa: Nausen tê tê tan chuan a hnute hnek ṭhat a harsa hle.
• Chaw ei harsa (dysphagia): Ei leh in ei harsa, chok ang maia inhria.
• Taksa lumna vawng nung thei lo: Taksa lumna a sang emaw, a tlahniam thut emaw thei.
• Tap laia mittui tlak lohna: Hei hi chhinchhiahna danglam tak a ni. Naupang tê tê chu an ṭah hian mittui a tla lo.
• Thang tha lo: Naute rih zawng leh san zawng hi an kum a zirin a pung lo.
• Muscle chak lohna (hypotonia): Taksa chu a hlim lo va, a chak lo bawk.

Naupang a lo upat deuh deuh chuan, a chang chuan an thawk an tikhawlo thei a, an rilru a buai ang maiin an thawk thei bawk . Mahse he thawk lakna hi kum 6 an tlin chuan a bo tlangpui.

Natna a zual zel chuan a lan chhuahna dang a lo lang thei a:

• Heartbeat abnormalities (arrhythmia): Heart rate a mumal lo thin.
• Taste abnormalities: Chaw ei kha i ei tha thei lo mai thei.
• Ruhro (spine curvature) pangngai lo (scoliosis): Ruh hi a sir khatah a inher chhuak niin a lang.
• Balance lama harsatna leh kal dan lama harsatna: Kal harsa, tlu hlauhawm.
• Bedwetting: Zanah mut laiin khum hnim.
• Chronic acid reflux (GERD): Lung na fo leh rilru na tak tak, rilru lam thlenga sang thlenga hriatna.
• Hmasawnna tlai: Thusawi leh kea kal ang chi thil hi a tlai.
• Salivation tam lutuk.
• Mit lama harsatna: mit vawt, strabismus ang chi thil.
• Natna hriat theih lohna leh khaw lum leh vawt inthlak danglam: Khua lum, khaw vawt, cut leh hliam te hi a hriat chian loh vang a ni.
• Mitdelna leh mitdelna.
• Lung infection: Infection hi lung chhunga mucus buildup vang a ni fo thin.
• Ruh chak lo (osteoporosis) leh ruh tliak theihna a sang.
• Thâwk lak dan thununna lama chak lohna, a bik takin mut laiin.
• Seizure condition hrang hrang, epilepsy ang chi te.
• Luak chhuak.

Familial dysautonomia vei tam tak chuan an thisen sang control kawngah harsatna an nei thin . Hei hian ding laia thisen sang a tihhniam (orthostatic hypotension) a thlen thei a, chu chuan luak leh muhil a thlen thei a ni. Thisen sang (hypertension) hian kal natna a thlen thei bawk.

Hetiang natna vei zinga 40% vel chuan "autonomic crises" tia koh hun an nei a, chu chu a natna lan chhuah dan a na zual nghal a ni. Heng hun chhung hian a hnuaia mite hi a thleng thei a ni:

• Khawsik.
• Lung na tak tak.
• Thisen sang a sang.
• Vun a sen vek.
• Thawmhnaw hak.
• Luak chhuak.

Naupang tê tê tân chuan hetiang harsatnate hi a neih reng a harsatzia hi han ngaihtuah teh. Hei hi nu leh pa tan pawh tuar a har khawp mai. Mahse heng zawng zawng hi damdawi lam thurawn angin solution a awm.

Engtin nge Familial Dysautonomia (FD) hi hriat theih?

I doctor chuan i natna lan chhuah dan a zawt hmasa ang che , chutah chuan taksa enfiahna a nei ang .

A bulpui ber chu i tap hian mittui a chhuak em tih en hi a ni. Naute thla 6 hnuai lam tan chuan Schirmer test an tih test an ti thin a:

• I tih tur chu naute mitmeng hnuai lam chhungah filter paper te tak te dah la.
• Minute nga hnuah hnah chhunga tui awm zat chu milliliter 10 aia tlem a nih chuan naute hian chhungkaw dysautonomia a nei thei tih rinhlelh a ni.

Chu bâkah, doctor chuan hengte hi a en bawk ang:

• Tendon reflexes tlahniam: FD i neih chuan doctor-in awlsam taka a tap chuan i taksa ruhte chu a chhang lo ang.
• Histamine injection avanga chhanna: FD vei chuan he injection hi a dawn hian mi pangngai angin vun a sen lo va, a hring lo.
• Methacholine avanga thil thleng: He damdawi hi i hnawih atanga minute 20 vel hnuah FD a awm chuan mit mitmeng chu a tlahniam ang.
• Lei hrual (smooth tongue appearance): FD i neih chuan i lei hnunglam lai takah awm taste buds (fungiform papillae) a awm loh avangin i lei chu a hrual angin a lang ang.

Heng chhinchhiahnate hi i hriat chuan i doctor chuan genetic testing , thisen sample lak a, chhungkaw dysautonomia thlentu genetic mutation enfiah a rawt thei a ni.

Familial Dysautonomia (FD) enkawl dan tur chu engte nge ni?

FD enkawlna atana ngaih pawimawh ber chu symptoms tihtlem hi a ni . Hemi atan hian enkawlna chi hrang hrang a awm a:

• Lung infection tan: Antibiotics emaw chest physiotherapy emaw.
• Orthostatic hypotension tan: Compression socks emaw permanent pacemaker emaw hman tur a ni.
• Mut laiin thawk lama harsatna nei tan: CPAP emaw BiPAP® (Bilevel Positive Airway Pressure) ang chi hmanrua.
• Mit mit (cornea) venhimna atan: Mit (Et drops) te.
• Luak chhuak avanga tui tlakchhamna atan: Intravenous saline (IV fluids) pek tur a ni.
• GERD, kal natna, hmui siam chhuah, epilepsy, emaw luak chhuak tan: damdawi chi hrang hrang.
• Nitin hnathawh awlsam zawk nan: Occupational therapy.
• Balance tihchangtlun nan: Physical therapy.
• Hnung lam harsatna nei tan: Surgery.
• Nutrition tihpun nan: Tube feeding (enteral nutrition) pek.

Hetihlai hian zirchiangtute chuan enkawlna thar clinical trial an nei chhunzawm zel a ni . Heng enkawlnate hian a tawpah chuan natna lan chhuah dan chauh ni lovin natna ngei pawh a enkawl theih beisei a ni.

Family dysautonomia (FD) vei theihna hi a tlahniam thei ang em?

FD vei theihna hi kan tihtlem thei tak tak lo, genetic a nih avangin. Mahse, a natna lan chhuah dan hriat a pawimawh a, a rang thei ang bera damdawi lam pan leh enkawl a pawimawh .

Ashkenazi Juda hnam i nih a, fa neih i tum a nih chuan genetic counseling zawng hi a tha hle . I doctor chuan naupai hma emaw, naupai lai emawa ELP1 gene i keng em tih enfiah turin genetic test neih a rawt thei bawk.

Familial Dysautonomia (FD) vei tan chuan eng nge a hmalam hun?

Chhungkaw dysautonomia hi damdawi a awm lo . Hetiang natna vei te hian mipui zawng zawng aiin an dam rei zawk a ni. Heng mite zinga a chanve vel chu kum 30 vel an ni. Midangte chu kum 70 vel an dam thei bawk.

He thu i hriat hian tlem chuan hlauhna leh lungngaihna a thlen thei che a ni. Mahse, inenkawlna mumal leh enkawlna tha tak nen chuan heng mite hi a tha thei ang bera nun tihlawhtling thei turin i pui thei tih hre reng ang che.

Hun kal zelah symptoms a na zual thei. Entirnan, FD vei zinga 49% vel chuan kum 50 an tlin chuan kea kalna kawngah tanpuina an mamawh ang a, lung natna, pneumonia ang chi pawh an nei fo thei bawk.

Familial Dysautonomia (FD) vei hian engtin nge a in enkawl?

Heng step te hi zawm hian harsatna tihziaawmna kawngah i pui thei ang:

• Khua lum emaw, khaw vawt emaw chu pumpelh rawh.
• Thil buaithlak tak takte chu tihtlem rawh.
• Khualzin rei tak chu pumpelh rawh.
• I bladder a khat hma chu nghah loh tum ang che.

Tin, i doctor hnenah heng thilte hi i enfiah fo tur a ni :

• Thisen sang a ni.
• Mit.
• Kidney hnathawh dan.
• Thluak lam hnathawh.
• Spine a ni.

Take-Home Thuchah a ni

Familial dysautonomia (FD) hi thil awm lo, genetic condition a ni a, i nervous system a nghawng a ni. A bik takin duh loh zawng hnathawh, thawk, chaw ei, mittui siam, thisen sang leh taksa lumna control, leh hmui siam te a nghawng a ni. Tin, sensory functions te, taste, pain, leh temperature te pawh a nghawng thei bawk.

Hei hi damdawi famkim awm lo mah se, damdawi, damdawi chi hrang hrang, surgery ang chi enkawlna te hian a natna lan chhuah dan a thunun thei a, nun a ti awlsam thei hle.Chhungkaw dysautonomia vei te hian dam rei lo zawk mah se, enkawlna leh enkawlna tha tak an neih chuan a tha thei ang bera nun an hmang thei a ni. A pawimawh ber chu natna lanchhuahna i neih chuan damdawi lam thurawn lak hmasak a, damdawi lam enkawlna hnuaia awm reng hi a ni.

` Chhungkaw dysautonomia, nervous system, genetic diseases, Riley-Day syndrome, naupang hriselna, symptoms, enkawl dan