PURA syndrome hi i hria em? Heng thilte hi i fa hmalam hun atan hre rawh!

I fate hmasawnna chungchangah hian rinhlelhna tlem emaw, hlauhna emaw tlem i nei ngai em? A châng chuan naute hian thil an zir zawi zawi a, a nih loh leh hriselna lama harsatna ṭhenkhat a lo chhuak ṭhin. Hetiang hunah hian PURA syndrome tih hming pu, natna hlauhawm tak hriat a pawimawh thei hle. Hei hi a pawi deuh niin a lang a nih chuan hlauthawng suh. A awlsam zawngin sawi ila.

PURA syndrome hi eng nge ni?

A awlsam zawngin, PURA syndrome hi genetic condition hmuh tur awm lo tak a ni . Kan nervous system a nghawng ber a ni . Chu chu thluak leh nerve te hi a nghawng nasa ber tihna a ni. Chuvang chuan naupang thanlenna chu a hniam lam atanga na tak thlengin a tlai thei a ni . Zirna lama harsatna a thlen thei bawk. Vawi tam tak chu PURA syndrome nei naupangte hian kea kal harsatna, seizures emaw epilepsy emaw, leh hriselna lama harsatna dang an nei thei.

Zirchiangtute chuan hei hi thluak leh nerve cells (nerve cells / neurons) hmasawnna atana inrawlh genes inthlak danglamna, a nih loh leh mutations avanga lo awm niin an ngai. Hetiang natna neia piang naute hian a tir lamah chaw pek leh thawk harsatna an nei thei a ni. Mahse, hengte hi a chang chuan hun engemaw chen hnuah a tha chho leh thin. Amaherawhchu, naupang tam tak chu an lo puitlin hunah mahni chauhin an tawng thei lo emaw, an kal thei lo emaw pawh a ni thei.

Tunah hian PURA syndrome hi damdawi a la awm lo . Mahse, enkawlna dik tak chuan nang leh i naute chu natna lan chhuah dan enkawl turin a pui thei a, harsatna awmte pawh a tiziaawm thei bawk. Chuvangin he natna hi hriat hmasak a pawimawh hle .

Tute nge PURA syndrome nei thei?

PURA syndrome hi pianpui atanga lo piang a ni a . Chumi awmzia chu pian tirh lamah pawh he natna hi a awm thei tihna a ni. Nervous system a nghawng a ni. A châng chuan, he natna hi nu leh pa aṭanga fate hnênah gene hmangin a kai thei bawk. Mahse, naupang pakhatin PURA syndrome a vei thei tih hriat reng a pawimawh a , chu chu chhungkaw zingah tumahin he natna hi an la nei lo a nih pawhin . Chumi awmzia chu gene mutation thar a lo awm tawh mai thei tihna a ni.

Eng dinhmun dang nge he thil nen hian a inang?

PURA syndrome symptoms hi natna dang nen a inang thei a, chuvangin doctor-te tan chuan PURA syndrome a nih leh nih loh hriat nghal a harsa thei hle. Heng natna lan chhuah dan inang lo thenkhat chu hetiang hi a ni:

• `(Angelman natna)`
• Congenital central hypoventilation syndrome - Hei hi thluak lam natna hmuh tur awm lo tak a ni bawk a, thawkna a tichhe nasa hle.
• Myotonic dystrophy - Hei hi taksa peng hrang hranga natna chi hrang hrang, muscular dystrophy an tih zinga mi a ni.
• Neurotransmitter kaihhnawih natna - entirnan Alzheimer natna emaw Parkinson natna emaw.
• Pitt-Hopkins syndrome - Hei hi genetic disorder hmuh tur awm lo tak a ni bawk a, hmasawnna tikhawtlai leh epilepsy a thlen thin.
• `(Prader-Willi natna)`
• `(Rett syndrome)` tih a ni

Heng symptoms te hi a inang vek avangin a dik taka hriat theih nan test bik neih a ngai a ni .

PURA syndrome tih hming dang a awm em?

Ni e, a châng chuan doctor-te chuan he natna hi scientific hming dangin an ko mai thei. Chumi chungchang pawh tlem tal hriat a tha a ni lawm ni? Entir nan:

• `(Finna lama hmasawnna tlai, autosomal dominant 31)`
• `(PURA nena inzawm neurodevelopmental disorder)`
• `(PURA nena inzawm nausen piang thar hypotonia-seizures-encephalopathy syndrome na tak)`

Heng hmingte hi a buaithlak deuhin lang mah se, an vai hian dinhmun inang an sawi vek a ni.

PURA syndrome hi engtiang chiahin nge a awm?

PURA syndrome hi a takah chuan natna hmuh tur awm lo tak a ni . Tun thlengin khawvel pumah puitling leh naupang 470 chuang zetin he natna hi an vei tih hriat a ni. Ngaihtuah teh, chutiang chuan mi an tlem hle. Medical field hian he natna hi kum 2014 khan an sawi tan a, chu chu natna thar tak a ni tihna a ni.

PURA syndrome leh epilepsy hi eng nge inzawmna?

PURA syndrome neia piang tam tak chu epilepsy vei theihna a sang hle . A châng chuan hei hi epilepsy chi khat, damdawi ei pawha chhân lêt lo a ni thei bawk. Chumi awmzia chu damdawi hmanga thunun a harsa tihna a ni. Seizure chi hrang hrang awm tam ber chu focal seizures emaw generalized seizures emaw a ni. Heng natna lan chhuah dan hi nausen emaw naupan lai emaw atanga tan a ni tlangpui .

PURA syndrome hi engte nge ni? (chipchiar deuh deuhin)

Kan sawi tawh ang khan PURA syndrome thlentu ber chu kan taksaa gene bik pakhat `(PURA gene)` an tih mutation vang a ni. He `(PURA)` gene hian thluak than dan pangngaiah hmun pawimawh tak a chang a ni. Chuvangin, he gene-ah hian chhiatna a awm chuan nerve cells `(neurons)` lo thanglian dan leh `(myelin)` tih hming pu thil siamna a nghawng thei a ni. `(Myelin)` hi kan nerve khuh tu leh signal kal tlanga rang taka kal theihna tura puitu a ni. Chuvângin, he thil kalphung hi tihbuai a nih hian thluak hnathawh a nghawng nasatzia hi han ngaihtuah teh.

PURA syndrome hi eng symptoms nge ni?

PURA syndrome symptoms hian taksa peng hrang hrang a nghawng thei a ni. Hetiang natna vei naupang piangte hian zirlai harsatna tawk leh na tak an nei a .

Nausen piang tharte hmuh theih symptoms: 1.1.

• Vawi tam tak chu chaw pek emaw thawk emaw harsatna a awm thin .
• Damdawi lam tanpuina (feeding or breathing tubes) a ngai mai thei a, mahse thawk lama harsatna chu kum khat chhungin a reh tlangpui.
• Chaw ei harsatna (dysphagia) hi a chang chuan a rei thei a, kum khat aia rei a awm thei bawk.

Naupang kum upa lam deuha hmuh theih symptoms: 1.1.

• I kal tha thei lo mai thei , i motor thiamna pawh a tlahniam thei bawk.
• Ṭawng chu i hrethiam a nih pawhin i thiam lo mai thei .
• Thu an sawi thei a nih pawhin, thumal emaw, thumal tawi tak emaw hmangin an inbiak thei a ni .

PURA syndrome vei tam tak chuan seizures (epilepsy) emaw convulsive movement emaw an nei thin. Chungte chu a tlangpuiin:

• Kum 5 a tlin hmain a intan a, a hmasa berah chuan involuntary muscle twitches (myoclonus) angin a intan thei.
• Thunun a harsa khawp mai .
• A châng chuan epilepsy natna khirh tak leh buaithlak takah a lo chang thei a, chu chu ``Lennox-Gastaut syndrome'' tih a ni.

Naupang leh puitlingah hian natna lan chhuah dan tlangpui dang:

• Ruh leh ruh natna - hip dysplasia leh scoliosis ang chi te.
• Thâwk lama harsatna - mut laiin thawk hah (sleep apnea) emaw thawk slow, shallow breathing (hypoventilation).
• Taksa lum harsa (hypothermia).
• Chauh lutuk leh mut theih loh (hypersomnia).
• Mit lama harsatna - strabismus ang chi.
• Hiccups a awm fo thin.
• Gastrointestinal system lama harsatna - constipation ang chi.
• Muscle tone hniam (hypotonia) a ni.
• Balance nghet lo emaw, kea kal harsatna (gait disorder) emaw.
• Mit lama harsatna nei.

A lan chhuah dan tlangpui:

• Lung lam chhiatna.
• Endocrine system lama harsatna - vitamin D tlakchham emaw, puitlin hma emaw ang chi.
• Urinary leh reproductive system lama harsatna awm thei.

Engtin nge PURA syndrome hi hmuhchhuah a nih?

PURA syndrome hi taksa enfiahna chauh atanga hriat a harsa thei hle. Kan sawi tawh ang khan a symptoms hian condition dang a entawn thei bawk. Chuvangin, doctor-te chuan PURA syndrome a nih leh nih loh finfiah nan genetic test an neih a ngai a ni .

I fa natna lan chhuah dan azirin Doctor hian test dang engemaw zat a ti thei bawk. Entir nan:

• Thisen test a ni.
• Thâwk lak dan test a ni.
• `(EEG)` (Electroencephalogram) - Hei hian thluak electrical activity a test thin.
• Mit enfiahna a ni.

Hriat belh duh chuan i doctor chuan imaging test pawh a ti thei bawk. Chung zingah chuan:

• MRI (Magnetic Resonance Imaging) hmanga tihchhuah a ni.
• `(Ultrasound hmanga test)`.
• `(X-ray)` test a ni.

PURA syndrome hi damdawi a awm em?

Hei hi mi tam tak tan chuan harsatna lian ber a ni. Dik tak chuan tunah hian PURA syndrome hi damdawi kimchang a la awm lo.. Mahse, a hmaa hriatchhuah leh enkawl chuan scoliosis ang chi harsatna awm thei chu a ti tlem thei a ni. Doctor-te chuan nang leh i fate natna lan chhuah dan enkawl thei tur enkawlna an rawt thei a ni. Enkawlna dik tak i neih chuan i fa chu a theih ang anga thiltih tam takah a tel thei a, nun chu tlem a ti awlsam thei bawk .

I fa PURA syndrome enkawltu team-ah hian tute nge tel theih ang?

I fain PURA syndrome a neih chuan a enkawltu medical team-ah hian specialist hrang hrang an tel thei a ni. Chumi awmzia chu doctor pakhat chauh ni lovin, mi engemaw zatin i fa enkawlna tha ber pe turin an thawk ho tihna a ni. Chutiang team-ah chuan hetiang team hi an tel thei a ni:

• Mit lam doctor a ni.
• Geneticist pakhat a ni.
• Doctor, nervous system lama tui tak (neurologist) a ni.
• Occupational therapist - nitin hnathawhna hmuna tanpui thin.
• Orthopaedic surgeon pakhat a ni.
• Naupang enkawltu doctor a ni.
• Physics therapist chu kea kal leh che vel ang chi thila puitu a ni.
• Doctor, thawkna lama tui tak (pulmonologist) a ni.
• Thusawi leh tawng lama natna (speech-language pathologist) a ni.

Heng mite zawng zawng hian naupang dinhmun nena inmil ber tur enkawlna ruahmanna an siam chhuak vek a ni.

PURA syndrome hi engtin nge enkawl a nih?

PURA syndrome enkawlna hi naupang natna lan chhuah dan leh a nasat dan azirin a inang lo . Nausen piang tharin PURA syndrome a neih chuan damdawi inah enkawl a ngai fo ang a, chaw pek leh thawk danah tanpuina pek a ngai fo ang.

Naupang kum upa zawkte chu hetiang hian enkawl an ni tlangpui:

• Speech and language therapy - Inbiakpawhna thiamna tihchangtlun.
• Physical therapy - Mobility tihchangtlun.
• Ṭhenkhatah chuan, hmêl, thinlung, ruh, a nih loh leh thil dang dik lo siam ṭhat nân operation tih a ni thei bawk.

I fa chu thil chi hrang hrang i pe thei bawk:

• Antiseizure damdawi hman tur.
• Inbiakpawhna hmanrua.
• Chaw pek emaw, ei emaw support.
• Taksa leh hnathawhna lama therapy.
• Thusawi leh tawng hmanga enkawlna.
• Assistive devices - adaptive stroller, brace, orthotics, walker, emaw wheelchair te ang chi te.

Ka fain PURA syndrome a vei theihna tur tihtlem nan eng nge ka tih theih ang?

Hei hi nu leh pa tam takin an ngaihtuah thin a ni. Mahse thudik tak chu PURA syndrome hi ven theih a ni lo . Pawh,I thil tih avanga lo awm a ni lo. Nausen pian laia genetic changes (mutations) lo awm vang a ni. Chuvangin chutiang thil chu inthiam lo takin inhria suh.

PURA syndrome nei naupang tan chuan eng nge a hmalam hun?

PURA syndrome hi dam chhung zawnga dam theih loh natna a ni . Naupang tam tak chuan zirlai lama harsatna tawk leh na tak leh hmasawnna lama harsatna an nei thei a ni. Mi tam tak chuan anmahni chauhin an tawng thei lo va , an kal thei lo mai thei . Mahse, enkawlna \ha tak takte chuan i fa chu nunphung ṭha zâwk a pe thei tih hre reng ang che . Enkawlna an neih chuan anni pawh an hlim thei a, an theihna zawng zawngin an lo thanglian thei bawk.

Engtikah nge ka fa tan damdawi lam thurawn ka zawn ang?

PURA syndrome hi a hmaa hriatchhuah hi a symptoms enkawl nan leh complication awm theihna tur tihtlem nan a pawimawh hle . Doctor-te chuan i fa hriselna leh a natna lan chhuah dan tehna atan checkup an nei fo mai thei. I doctor chuan i fa mamawh leh thil tumte phuhruk thei tur personalized care plan siam turin a pui ang che.

PURA syndrome ang chi diagnosis i dawn hian i rilru a buai a, i lungkham hle. Hei hi genetic disorder awm lo tak a ni a, nervous system a nghawng a, zirlai harsatna nasa tak a thlen a, hmasawnna a tikhawtlai a, a tam zawkah chuan epilepsy a thlen thin. Mahse, enkawlna dik tak inzawmkhawm chuan i fa chuan nunphung ṭha zâwk a nei thei a ni . I fa a lo puitlin ruala danglamna thlen thei enkawlna \ha tak takte chu i doctor nen sawiho rawh. You are not alone , he zinkawngah hian doctor, therapist, leh midang tam tak tanpui thei tur che an awm bawk.

A tawp berah chuan i hriat reng tur pawimawh ber berte (Take-Home Message) .

PURA syndrome hi genetic disease rare tak ni mahse, a hriat chian a pawimawh hle.

• Hei hian nervous system a nghawng ber a, hmasawnna tlai, zirlai harsatna, leh epilepsy ang chi dinhmun a thlen thei a ni.
• A hmaa natna hriatchhuah leh enkawl dan tur dik tak tan hian naupang nunphung tihchangtlunna kawngah kawng thui tak a zawh a ni.
• Hei hi tihdamna famkim awm lo mah se, natna lan chhuah dan control leh harsatna tihziaawmna tur enkawlna hrang hrang a awm a ni .
• Specialist hrang hrang atanga doctor team te chuan naupang chu a tul anga enkawl turin an thawk ho thin a ni.
• Hetiang dinhmun hi a lo thlen loh nan kawng a awm lo va, nu leh pa i nih angin chutiang thil chu in sual tih inhriat a ngai lo .
• I fate hmasawnna emaw hriselna emaw chungchangah ngaihtuahna i neih chuan hlauthawng suh la, damdawi lam thurawn zawng nghal rawh . Chu chu i tih theih ṭha ber a ni.

Naupang tin hi an hlu vek tih hre reng la, naupang tin hian hmangaihna leh enkawlna tha ber an phu a ni.

`PURA syndrome, genetic diseases, nervous system, hmasawnna tlai, epilepsy, naupang hriselna, natna hmuh tur awm lo