Aw, ka naute hi eng nge a tihsual? Walker-Warburg Syndrome chungchang hi zir rawh

Nu i nih angin i fate chu pianpui hmel mak tak, nunna nei lo, emaw, taksa peng nei lo emaw, doctor-te’n mit emaw, thluak emaw hmasawnna lama harsatna a awm an tih chuan eng angin nge i lungngaih leh hlauh ang? A châng chuan hei hi a chhan chu a awm lo hle a, mahse a na hle a, pian tirh laia awm, genetic condition a ni thei bawk. Vawiin hian chutiang natna pakhat, Walker-Warburg Syndrome chungchang kan sawi dawn a ni.

Walker-Warburg Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Walker-Warburg Syndrome hi genetic condition a ni a, i fa taksa ruh, a bik takin thluak leh mit a nghawng a ni. Natna pawl pakhat , congenital muscular dystrophies an tih zingah a tel a, pian tirh emaw, nausen emaw atanga intan a, hun kal zelah taksa ruhte a tichak lo zauh zauh thin. Dik tak chuan he natna hian naupangteah nunna atana hlauhawm tak a thlen a, vanduaithlak takin an dam chhung a ti tawi bawk. Hei hi i tan chuan hlauhawm tak angin a lang thei a, mahse eng nge a nih hriat a pawimawh.

Dystroglycanopathy hi eng nge ni? Connection a awm em?

Walker-Warburg Syndrome hi Dystroglycanopathy tia sawi i hre tawh mai thei. Ngaihtuah buai suh, ka hrilhfiah ang che.

Walker-Warburg syndrome hi pianpui muscular dystrophy chi khat a ni a. Muscular dystrophy hi natna chi hrang hrang, naupang taksa ruh (muscle) tichhe thei chi khat a ni. Heng muscular dystrophies chi hrang hrang hi dystroglycanopathies tiin an thliar hrang a. Chu chu, protein dystroglycan siamtu genes-a chhiatna avanga lo awm muscular dystrophies chu he hming hi an vuah a ni. Walker-Warburg syndrome hi he dystroglycanopathies group zingah hian a na ber, a nih loh leh a na ber nia ngaih a ni.

Hetiang dinhmun hi engtiang chiahin nge a awm? Tuin nge dawng thei ang?

Walker-Warburg Syndrome hi natna awm lo tak a ni. Khawvel pumah nau piang thar 60,500 zinga pakhat velin he natna hi an vei nia chhut a ni. Genetic mutation avanga lo awm a nih avangin tu pawhin he natna hi an nei thei a ni. Chumi awmzia chu hnam, sakhua, etc. te hi a inzawm lo tihna a ni.

Ka fa hian he natna hi a rochun thei ang em?

Ni e, i fa hian Walker-Warburg Syndrome a rochun thei a ni.Hetiang hi a ni: Nu leh pa pahnih hi Walker-Warburg Syndrome thlentu mutated gene pakhat kengtu an nih chuan, chu chu an pahnih hian gene chhia copy khat an nei tihna a ni a, naupai lai hian nu leh pa pahnihin gene chu naupang hnenah an hlan chhawn chauhvin naute chu natna hi a vei ang. Hetiang rochan dan hi autosomal recessive inheritance an ti a.

Ngaihtuah teh, i fa hian nu leh pa pakhat hnen atanga he mutated gene copy pakhat chauh a rochun chuan naupang chuan symptoms a lantir lo ang a, mahse naupang chu natna kengtu a ni ang. Chumi awmzia chu nakin lawkah naupang fate pawhin he natna hi an vei theihna tur hlauhawm engemaw zat an nei thei tihna a ni a, nu leh pa dang pawh hi carrier a nih chuan.

Walker-Warburg Syndrome hian engtin nge ka fa taksa a nghawng?

He natna hian i naute taksa ruh (muscles) a nghawng ber a ni. I naute chu a pian veleh a taksa ruh (muscles)-ah inthlak danglamna i hmu nghal mai thei. Naute taksa chu a floppy hle thei a, nunna nei lo doll ang maiin , a chhan chu a taksa ruhte hian taksa ruh tone a nei tlem hle a ni. Muscle bakah hian he natna hian i naute thluak leh mit lo thanglian dan leh hnathawh dan a nghawng bawk. I naute hian mit lamah harsatna a nei thei a, a hmasawnna a tlai thei a, finna lamah pawh harsatna a nei thei bawk. Doctor-te chuan heng symptoms te hi enkawlna hmangin control tumin an bei a, naute dam rei lohna tur an veng bawk.

Walker-Warburg Syndrome natna lan chhuahna chu engte nge ni?

Walker-Warburg Syndrome hian symptoms a thlen a, chu chuan i fa ruh, thluak leh mit a tichhe thei a ni. Heng symptoms nasat dan hi a inang lo thei. Nau piang lai emaw, nausen naupan lai emaw hmuh tur an awm tlangpui. Symptom thenkhat chu nunna atana hlauhawm tak a ni thei.

Muscle nena inzawm natna lan chhuah dan

Walker-Warburg syndrome symptoms hian naupang chetna atana hman tur ruh (muscles) a nghawng a ni.

• Naute a pian hian taksa ruh (muscle tone) hniam (hypotonia) vangin nunna nei lo doll ang maiin "floppy" takin an lang thei a ni. Hei hian naute tan a lu, a kut leh ke a chawi a harsat phah a ni.
• Hetiang dinhmun hian naupang taksa ruhte chu a tichak lo zauh zauh a , chu chu hun kal zelah symptoms a na zual tihna a ni.
• Naute taksa ruhte a thawk ṭhat loh avângin, nausen laia hnute hnek chu a harsa thei a ni . An hnute tha thei lo emaw, an ei tha thei lo emaw pawh a ni thei.

Thluak nena inzawm natna lan chhuah dan

Walker-Warburg Syndrome hian i naute thluak than dan a nghawng a. Thluak nena inzawm symptoms te chu:

• Lissencephaly (smooth brain) hi thluak chu a chung lamah bumps nei anga lang, fold leh groove pangngai awm lo a ni. Phên dangin sawi ila, thluak chunglam chu a hrual ang maiin a lang.
• Thluak chhunga fluid awm zat(Hydrocephalus - tui lu) Hei hian lu a ti lian thei.
• Brainstem leh cerebellum-a hmasawnna dik lo emaw, cerebellar cyst (Dandy-Walker malformation) an tih emaw .
• Seizures , chu chu seizure ang chi dinhmun a ni.

Hêng dinhmunte hian i fa thluak a nghawng a, chu chuan a ṭhanlenna a tikhawtlai thei a , finna lama harsatna a thlen thei bawk .

Mit nena inzawm natna lan chhuah dan

Walker-Warburg Syndrome hian i fa mit hmasawnna a nghawng thei a, a natna lan chhuah dan te chu:

• Mit te tak te (Microphthalmia) emaw mit lian (Buphthalmos) emaw .
• Mit chhum, chu chu mit lens chu a var tawh tihna a ni (Cataracts) .
• Mit atanga thluak thlenga thuchah thawntu optic nerve hmanga thuchah thawn chhuah hun sawn hlat.
• Fiah taka hmuh harsatna (Vision impairment) .

Hei hi eng nge a chhan? Engvangin nge hetiang hi a lo awm?

Walker-Warburg Syndrome hi genetic mutation avanga lo awm a ni . He natna thlentu gene sawmhnih chuang hmuhchhuah a ni tawh a, hriat chhuah loh pawh a tam thei hle. Walker-Warburg Syndrome vei zawng zawng zinga a chanve aia tam zingah he natna thlentu genetic mutations lian ber ber thenkhat chu:

• `POMT1` tih a ni
• `POMT2` tih a ni
• `CRPPA` (hmanlai chuan `ISPD` tia hriat thin) .
• `FKTN` tih a ni
• `FKRP` tih a ni
• `LARGE1` tih a ni
• `POMGNT1` tih a ni
• `ISPD` tih a ni
• `GTDC2` tih a ni
• `DAG1` tih a ni

Heng genes te hian protein pakhat alpha-dystroglycan , glycosylation an tih, sugar molecule dah belhna kawngah a tibuai a ni. He glycosylation process hi a thleng dik loh chuan naute taksa peng hrang hrangte hian taksaah an structure an vawng reng thei lo. Heng protein te hian embryonic stage chhunga thluaka nerve cell te kal dan pawh a nghawng a, hei hian a hmaa kan sawi tawh ang khan thluak dinhmun lissencephaly an tih hi a thlen a ni.

A awlsam zawngin, Walker-Warburg Syndrome vei naupang taksa ruh chu a nghet a, a hlim reng bawk. Hun a kal zel a, heng muscle fiber te hi a chhe a, a chak lo va, hna a thawk thei tawh lo.

Tin, Walker-Warburg Syndrome hian naupang thluaka neuron kal dan a tibuai bawk. A tlangpuiin neurons te hi an tumna hmun an thlen chuan an ding reng tur a ni. Mahse, a nghawng neurons te hi naupang thluak vel tuiah an kal bawk. Hei hian thluak hmasawnna kawngah nghawng lian tak a nei a ni.

Walker-Warburg Syndrome hi engtin nge an hriat theih?

I doctor chuan naupai hnu lamah Walker-Warburg Syndrome test a tan thei a, naute a pian hnuah a diagnosis chu a dik tih finfiah a ni.

• Naupai laiin ultrasound scan hmangin natna lan chhuah dan a hriat theih a, a bik takin naute thluak a nghawng dan a hriat theih.
• Naute pian hnuah imaging test, CT scan leh MRI te hian naute thluak chiang takin a hmu thei a, a dinhmun a zirchiang thei bawk.

Walker-Warburg Syndrome hmuhchhuah a nih leh nih loh finfiah nan test engemaw zat a awm a:

• Muscle tissue biopsy hi naupang taksa ruh (muscle fibers) a hrisel em tih enfiah a ni. Hei hian taksa peng tlemte lak a, enfiah a huam a ni.
• Thisen test a, thisen a Creatine Kinase (CK) awm zat enfiahna a ni. CK hi enzyme pakhat a ni a, taksa ruh (muscle tissue) a chhiat chuan thisenah a chhuak thin. CK level sang chuan taksa ruh a tichhia tih a tilang.
• Naupang mitmengah Walker-Warburg Syndrome chhinchhiahna a awm leh awm loh enfiah nan mit enfiah a ni .
• Genetic blood test hmanga symptoms thlentu mutated gene hriat theihna.

Hei hi eng enkawlna nge ni?

Vanduaithlak takin Walker-Warburg Syndrome hi damdawi a la awm lo. Chuvangin, enkawlna hian natna lan chhuah dan tihziaawmna tur a tum ber a ni. Naupang natna vei hmuhchhuah apiang tan enkawlna kawng hrang hrang a awm thei a, chu chu naupang dinhmun a zirin a ni. Enkawlna kawng hrang hrangte chu:

• Thluak atanga tui tam lutuk lakchhuahna tur operation (hydrocephalus).
• Seizures venna atana damdawi pek.
• Physical therapy hmanga taksa chakna tihchak.
• Chaw ei harsatna i neih chuan feeding tube dah luh hian a pui thei a ni.

Walker-Warburg Syndrome enkawlna tum ber chu nunna atana hlauhawm symptoms venna leh naupang dam rei zawng tihpunna tura puih a ni.

Walker-Warburg Syndrome hi ven theih dan a awm em?

Walker-Warburg Syndrome hi genetic condition a nih avangin ven dan tur a awm lo. Naupai i tum a, nau neih theihna tur i hriat duh chuan, i doctor nen genetic testing emaw, genetic counseling emaw chungchang sawipui a tha

Ka fa hian he natna hi a nei a nih chuan eng nge ka beisei ang?

Walker-Warburg Syndrome hi natna zual zel a ni. Chumi awmzia chu a tir lamah chuan a natna lan chhuah dan chu a na lo thei a, mahse hun kal zelah a zual zel tihna a ni. Hei hi a lungchhiatthlak hlein a lang thei a, mahse he natna nei naute hian dam rei lo tak an nei tlangpui , a tam zawkah chuan naupan lai thleng chauh a ni. I fa doctor-in nunna atana hlauhawm symptoms a neih loh nan leh i fa dam rei theihna turin enkawlna a pe ang. He natna hi damdawi a awm lo tih hre reng ang che.

I fa diagnosis nen chuan i in enkawl a pawimawh hle. I fate natna hmuhchhuah leh enkawlna kawng hrang hrangte hriatthiam leh hmachhawn turin genetic counselor nena inbiakna neih chu nang leh i chhungte tan a \angkai thei ang. Mental health professional chuan i fate natna hmuhchhuah a nih avanga a lo thleng nghal mai tur hlohna tur inbuatsaih leh hmachhawn turin a pui thei bawk che a ni. Lungngaihna leh ṭanpuitu pawlte hi heng hun harsa tak karah hian chhungkaw tan thlamuanna tha tak a ni thei a ni.

Engtikah nge ka fa chu doctor hnenah ka hruai ang?

I fain Walker-Warburg Syndrome symptoms a neih chuan, a bik takin ei theih loh , i fa doctor ko nghal rawh. Tin, i fate natna lan chhuah dan chu a lo kir leh emaw, a zual deuh emaw a nih chuan i doctor hnenah hriattir rawh , a natna lan chhuahna tihziaawmna tura enkawlna hlawhtling tak pawh ni se.

I fa chu seizures neih hlauhawmna a ni . I fa chu rei lo tê chhûnga hriatna hloh, thunun theih loha a inher emaw, a che emaw, a buai, a hlauthawng emaw, a rilru a hah emaw i hmuh chuan damdawi in emergency room-ah kal nghal rawh.

Ka fa doctor hnenah eng zawhna nge ka zawh ang?

He hun harsa tak karah hian zawhna tam tak i nei mai thei. I fa doctor hnenah heng zawhnate hi zawt tum ang che:

• Ka fa hian operation a mamawh em?
• Enkawlnate hian eng side effect nge a neih?
• Ka fain seizure a neih chuan engtin nge ka tih ang?
• Ka fa hi engzat nge wellness checkup atan ka rawn hruai tur?

I nau piang thar hian nun pum pui an neih theih lohna tur genetic condition a nei tih hriat chu thil lungchhiatthlak tak a ni thei. He diagnosis harsa tak hmang hian i doctor chuan nunna atana hlauhawm symptoms venna tur leh i fa dam rei theihna tur enkawlna a pe ang. I fa diagnosis hian nang leh i chhungte tan emotional tak a ni thei a, chuvangin i mamawh support i dawng ngei ngei tur a ni. Mi tam tak chuan an fa enkawl dân zir belh nân genetic counselling chu a ṭangkai hle niin an hria. Mental health professional chuan stress control nan a pui thei che a, beisei loh taka hloh tur i inbuatsaih theih nan leh i hmachhawn thei bawk. Ṭanpuina i mamawh chuan i doctor nen inbia la, ṭanpui rawh.

Thuhmahruai: Take-Home Message

• Walker-Warburg Syndrome hi a tlem hle a, mahse genetic disease na tak a ni.
• Hei hian naupang taksa ruh, thluak, leh mit a nghawng ber a ni .
• A lan chhuah dân chu taksa ruh chak lohna (floppy baby), thluak ṭha lo (lissencephaly, hydrocephalus), epilepsy, leh mit lama harsatna te a ni .
• Hei hi nu leh pa pahnih atanga an rochun genetic defect vang a ni .
• Damdawi awm lo mah se, natna lan chhuah dan control leh dam rei theihna tur enkawlna a awm .
• Chutiang hun harsa tak karah chuan nu leh pa leh chhungte tan rilru lama chak taka awm reng leh a tul anga puihna dawn a pawimawh hle. Hemi atan hian genetic counseling leh rilru lam hriselna lama puihna hian a pui dawn a ni.

He thu hian he natna hmuh tur awm lo tak hi hriatthiamna engemaw chen i neih theih ka beisei. Nangmah chauh i ni lo tih hre reng la, doctor leh counselor-te pawhin tanpui turin an inpeih reng a ni.

` Walker-Warburg syndrome, genetic diseases, muscle chak lohna, thluak malformations, mit natna, congenital muscular dystrophy, naupang hriselna