I naute hian thluak hmasawnna lama harsatna a nei em? Joubert Syndrome chungchang hi han sawi ila

I fate hriselna hi i ngaihtuah fo thin a ni lawm ni? A châng chuan naute hian hriselna lama harsatna awm lo tak tak an nei thei bawk. Chutiang dinhmun pakhat chu Joubert Syndrome a ni. He hming i hriat hian mak i ti deuh mai thei, mahse awlsam takin sawi ila. Hei hi genetic factors avanga lo awm a ni a, naute thluak hmasawnna a tichhe thei a ni.

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

Joubert syndrome hi genetic condition a awm lo hle a ni . Nausen pian lai, chu chu nu pum chhunga a la awm laia naupang thluak peng pakhat a lo thang tha lo a nih chuan a thleng thin. Ngaihtuah teh, kan thluak hi machine complex tak ang mai a ni. A peng hrang hrangte hian thawhhona hmanga kan thiltih zawng zawng thununtu a ni. So, in this condition , cerebellum leh thluak bul hmasawnna hi a nghawng ber a ni.

He syndrome hi subtype hrang hrang a awm avangin naupang hrang hrangah symptoms a inang lo thei. Mahse, a lan chhuah dan langsar ber chu taksa ruh control lama harsatna, taksa peng hrang hrang inthlak danglam, thawk harsa, leh mit chetna lama harsatna te hi a ni.

Khawvel pumah naute 100,000 zinga pakhat vel chu he natna nei hian an piang a ni. A tam zawkah chuan nu leh pate hnen atanga an rochun genetic mutations vang a ni. Mahse, a châng chuan, chu natna chu a chhan hriat lohvin a awm fo thei a ni.

Joubert syndrome natna lan chhuah dan chu engte nge ni?

Joubert syndrome vei naupang chuan symptom hrang hrang a nei thei. Heng symptoms te hi naupang a lo puitlin chuan a danglam thei a ni. A lan chhuah dan ber chu taksa inthlak danglamna, mit lama harsatna, leh thin leh kal lama harsatna te a ni.

Nervous system nena inzawm harsatna: 1.1.

I fa hian nervous system nena inzawm harsatna emaw, dinhmun emaw a nei thei a, chungte chu:

• Low muscle tone (Hypotonia): Hei hi nausen taksaa taksa ruhte a lo hrual em em lai a ni. A hnuah chuan hei hi taksa ruh inzawmna (ataxia) lama harsatnaah a chang thei a ni. Chumi awmzia chu kal emaw, thil man harsa emaw a lo ni ta tihna a ni.
• Mit lama harsatna: Entirnan, mit chetna (nystagmus) emaw, strabismus (mit kawng hrang hranga inher) emaw i hmu thei.
• Thâwk lama harsatna: Chungte chu thawk rang, thuk lo (tachypnea) emaw, thawk hah (apnea) emaw a ni thei . Hengte hi nausen naupangte zingah a tam hle.
• Hmasawnna tlai: Naupang chu an kum nena inmil thil, thusawi, kal, leh inkhelh ang chi thilah a tlai thei.
• Thil hriatna lama harsatna: Naupang thenkhat chuan zirlai thiamna leh hriatthiamna ang chi thilah chak lohna engemaw zat an nei thei.

Taksa lama inthlak danglamna: 1.1.

Hetiang natna vei naupangte hmel lan danah hian thil bik thenkhat hmuh tur a awm a:

• Hmai leh/ emaw, hmui hrual .
• Hmai lam chi hrang hrang: Entirnan, hmai zau tak, mitmeng tla (`ptosis`) , mit inkar hlat zawng pangngai aia zau zawk. Beng chu a tlangpui aia hniam zawkah dah a ni thei a, a hmui chu triangular takin a awm thei a, a hmui chunglam chu a laiah a inher chhuak thei bawk.
• Kut zungtang (Polydactyly) (kut emaw ke emaw-ah) neih belh .
• Lei chhuak chhuak .

Damdawi lam harsatna dangte:

Naupang a lo puitlin chuan retina (mit chhunga êng chu lem-a chantirtu), kal leh thin (liver)-ah te harsatna a awm thei a ni. Entirnan, Leber-a pianpui amaurosis (mit lama harsatna lian tak), polycystic kidney disease , emaw, liver failure emaw a awm thei.

Engvangin nge Joubert syndrome hi a lo awm? A chhante chu engte nge ni?

Joubert syndrome thlentu ber chu gene inthlak danglamna a ni a, chu chu mutations an ti a ni . He natna hi thluak thanlenna atana puitu gene hrang hrang 35 chuang mutations vang a ni thei.

A tam zawkah chuan heng genetic mutations te hi autosomal recessive takin an inherit thin a ni . A awlsam zawngin sawi ila, naupang chuan a nu leh a pa pahnih atanga mutated gene a rochun chuan natna hi a vei ang.

Mahse, heng mutations zinga pakhat hi ‘X-linked’ mutation angin inherit theih a ni bawk . Chumi awmzia chu gene mutation chu X chromosome-ah a awm tihna a ni. X chromosome-a mutation awmte hi naupang hnenah dominant mutation emaw recessive mutation emaw angin a kal thei a ni. Mahse, naupangin nu leh pa hnen atanga engtin nge a hmuh tih erawh a chiang ngai lo.

Heng genetic mutations te hian naupang thluak hmun hrang hrangah hian thil danglam tak a thlen thin:

• Cerebellum: Hei hi kan coordination leh movement kan control na hmun a ni. Joubert syndrome-ah chuan cerebellum peng pakhat, cerebellar vermis chu a awm lo thei a, a tlangpui aia te pawh a ni thei bawk.
• Brainstem: Hei hian thawk leh balance a control a. Hei pawh hi a lo thang tha lo hle. Imaging scan-ah chuan he cerebellar vermis leh thluak stem pangngai lo hi ha ang maiin a lang. Doctor te chuan hei hi molar tooth sign an ti a . He chhinchhiahna hi hriatchhuah hi Joubert syndrome hriat theihna kawng khat a ni.
• Cilia chuan:Chûngte chu cell chung aṭanga chhuak, building chung aṭanga antenna lo chhuak ang chi thil te tak te an ni. Heng cilia te hi thluak cell-a awm te hian taksa peng hrang hrangte chu an lo thanglian zel angin an inbiakpawhna atan a pui thin. Researcher-te chuan heng cilia-te nghawngtu genetic mutations hian Joubert syndrome vei te mit, kal leh thin lama harsatna an neih chhan a ni an ti.

Engtin nge heng genetic mutations te hian chhungkaw dangte a nghawng?

Genetic mutation chi leh gender ang chi thil hrang hrangah a innghat a ni.

• Autosomal recessive inheritance: Joubert syndrome vei naupang unaupa chuan he natna hi a vei theihna chance 25% a ni. Symptoms nei lovin gene mutation carrier a nih theihna chance 50% a awm. Gene mutation leh symptoms nei lo chance 25% a awm.
• X-linked inheritance: Naupang mipa chuan he natna hi a vei theihna chance 50% a nei a. Mahse asymptomatic a nih chuan carrier a ni lo. Naupang hmeichhia chuan he natna hi a vei theihna chance 25% a nei a ni. Symptomatic ni lovin gene mutation carrier a nih theihna chance 50% a awm.

Engtin nge Joubert syndrome hi hmuhchhuah a nih?

Doctor-te chuan naupang natna lan chhuah dan leh imaging test hmangin Joubert syndrome an hmuchhuak thin. He natna hi hriat theihna tur tehfung chu:

• ‘Molar tooth sign’ hi thluak MRI (Magnetic Resonance Imaging) scan-ah hmuh theih a ni.
• Muscle tone tlahniam (Hypotonia) chhinchhiahna .
• Hmasawnna lama tlai lutuk .

Doctor-te pawhin a natna hmuhchhuah leh enkawl dan tur ruahmanna siam turin genetic test an ti thei bawk. Zirna hrang hrangah Joubert syndrome vei naupang 62% leh 94% inkar chuan a thlentu genetic mutations zinga pakhat an nei tih hmuhchhuah a ni. Genetic mutation dik tak hriatchhuah hian doctor-te chu nakin lawka hriselna lama harsatna awm turte sawi lawk theiin, a hmaa enkawl turin a pui thei a ni.

"Brain MRI-a 'molar tooth sign' hi Joubert syndrome hriatchhuahna atan a pawimawh hle. Genetic testing hian natna hi finfiah nan leh nakin lawka enkawl dan tur ruahmanna siamna kawngah pawh a pui hle bawk."

Hei hi nau neih hmaa test hmanga hriat theih a ni em?

A theih a, mahse engtik lai pawhin a ni lo. Nausen thluak bul emaw cerebellum emaw a inthlak danglamna hi prenatal MRI ah pawh hmuh theih a ni . Mahse, nausen thluaka thil dik lo thenkhat chu MRI scan-ah hmuh tur a awm lo mai thei.

Joubert syndrome enkawl dan tur chu engte nge ni?

Naupang hrang hrangah enkawl dan a inang lo. Syndrome chi hrang hrang leh naupang a nghawng danah a innghat a ni. Entir nan:

• I naute hian thawk harsatna a neih chuan, supplementary oxygen emaw mechanical ventilation emaw ang chi supportive care pek theih a ni.
• Naupang kum tin, hmasawnna tlai lote chuan physical therapy , speech and language therapy, leh occupational therapy te an dawng thei a ni. Chûngte chuan naupang tân ni tin thiltih awlsam zâwk tûrin a ṭanpui thei a ni.
• Naupang mit natna strabismus ang chi nei chuan chu chu operation (strabismus surgery) a nei thei a ni.

Joubert syndrome-in i fa a nghawng dan azirin, kal natna, mit lama harsatna, leh nervous system lama harsatna te ang chi natna hriatchhuah, enkawl leh enkawl turin specialist-te i pan fo a ngai mai thei.

Ka fa hian Joubert syndrome a nei a nih chuan eng nge ka beisei ang?

Joubert syndrome vei naute leh naupangte hmalam hun chu thil engemaw takah a innghat a ni. A bik takin naupang nghawng thei genetic mutation bik hi a pawimawh hle. A tlangpuiin Joubert syndrome vei naupangte hian dam chhung zawng damdawi lam enkawlna leh puihna dang an mamawh dawn a ni. Hemi chungchangah hian i fa doctor hi a tha ber a ni.

Joubert syndrome neia piang naute dam rei zawng chu engzat nge ni ang?

Joubert syndrome hi naupan laiah thihna thlen thei a ni. Mahse, he natna vei ṭhenkhat chu puitlin thlengin an nung a ni. He natna hmuh tur awm lo tak dam rei zawng hi zirchiangtute chuan an la zirchiang mek a ni. Tin, i fa dinhmun hi a danglam bik a, chu chu natnain a nghawng dan a danglam tihna a ni. I fa chu eng chen nge a dam dawn tih hriat duh hi thil awmdan pangngai a ni. Hemi chungchangah hian i fa medical team te hi a tha ber a ni.

Joubert syndrome hi ka veng thei ang em?

Vanduaithlak takin Joubert syndrome ven dan tur a awm lo. Mahse, geneticist leh genetic counselor-te chuan i chhûngkaw zînga mi pakhat chu hlauhawma awm leh awm loh hriat theih nân an ṭanpui thei a ni. Chu thu hriat chuan mite chu, entîr nân, fa neih leh neih loh tûr chungchânga thu tlûkna siam tûrin a ṭanpui thei a ni.

Engtikah nge ka fa hian doctor a hmuh ang?

Joubert syndrome symptoms hi i fa dam chhung zawngin a danglam thei a ni. Chuvangin, i fa chu kum tin checkup turin hruai a pawimawh . Doctor chuan a hnuaia mite hi a enfiah thei ang:

• Naupang thanlenna leh thanlenna.
• Mit hmuh theihna.
• Liver leh kidney hnathawh dan.

I fa chu a hun hunah neurological examination leh development test a nei ang.Mit lama harsatna te, kal natna te, a nih loh leh thin natna te enkawlna atan pawh fimkhur bik i neih a ngai mai thei bawk.

Engtin nge keimah leh ka chhungte ka enkawl ang?

Joubert syndrome hian chhungkaw nunah danglamna nasa tak a thlen thei a ni. Hetiang natna nei naupang hmangaih leh enkawltu zawng zawng tan chuan a buaithlak hle thei. Joubert syndrome nei naupang i neih chuan heng ngaihtuahnate hian a pui thei ang:

• Support groups: Joubert syndrome hi a awm ve lo. I chhungte chauhvin heng harsatnate hi an hmachhawn niin i hria mai thei. Support group-a i tel hian nu leh pa dangte, enkawltu dangte leh chutiang harsatna tawk mek chhungkawte nen pawh i inzawm thei a ni.
• Counselling: Psychiatrist emaw, mental health professional dang emaw nena inbiakna chuan nang leh i chhungte chu he thila lo awm thin stress, lungkhamna leh rilru natna dangte chu i thunun thei a ni.
• Get Active: Joubert syndrome hi i thunun theih loh thil avanga lo awm a nih avangin tanpui theih lohvin i inhria thei. Chutiang a nih chuan, hetiang programme leh research thlawptu pawlte nena thawh dun hi ngaihtuah rawh.

Ka fa doctor hnenah eng zawhna nge ka zawh ang?

Tuna i fa mamawh leh hmalam hun chungchangah zawhna tam tak i nei mai thei. Rawtna thenkhat chu hetiang hi a ni:

• Eng ang rualbanlo nge kan beisei ang?
• Eng ang specialist nge kan hmuh ang?
• Eng chen nge kan inhmuhkhawm ang?
• Ka fa hian operation a mamawh dawn em?
• Kan fa dam chhung hi eng ang nge ni ang?
• Chhungkaw member dangte chu genetic testing an nei tur em ni?

I fain Joubert syndrome a vei tih i hriat chuan thil mak tak a ni thei. Condition awm lo tak a nih avangin i hre tam lo mai thei. Ram hriat loh takah i thleng thut a, i kalna tur zawng turin map emaw compass emaw nei lovin i bo ang maiin i inhria mai thei.

I fa doctor-te chuan he zinkawng hriat loh chhung hian zawhna leh ngaihtuahna tam tak i nei dawn tih an hrethiam. Thu leh hla leh tanpuina dil hreh ngai suh. Entirnan, Joubert syndrome hian hriselna lama harsatna tam tak a thlen thei a, symptom hrang hrang a nei thei bawk. Tin, i fa a lo puitlin chuan harsatna thar a lo chhuak thei bawk.

Hetiang natna vei naupang tam tak chuan dam chhung zawng damdawi lam enkawlna leh puihna an mamawh dawn a ni. I fa medical team te chu he kawng hriat loh takah hian nang leh i fate tanpui turin an awm ang.

Take-Home Thuchah a ni

Joubert syndrome hi natna khirh tak a ni a, mahse, nangmah chauh i ni lo tih hre reng ang che.

• Thu dik tak hmu rawh: I medical team-te hnenah i hriat tur zawng zawng zawt rawh.
• Damdawi lam enkawlna mumal tak neih a pawimawh: I fate thanlenna leh hriselna enfiah fo thin ang che.
• Therapeutic treatment hrang hrangte chu en rawh:Physics therapy leh speech therapy ang chi thilte hian naupang theihna tihhmasawn nan a pui hle.
• Chak takin awm rawh: Nu leh pa i nih angin chak taka awm hi i fa tan chakna ropui tak a ni. A tul chuan counseling zawng rawh.
• Support group-ah tel ve rawh: Mi dangte thiltawn chuan a tichak ang che.

He zinkawng hi harsa viau mah se, tanpuina leh enkawlna dik tak nen chuan i fa chu nun tha ber nei turin i pui thei ang.

` Joubert syndrome, genetic natna, thluak than dan, naupang natna, hypotonia, ataxia, molar tooth sign