I naute hian pianpui taksa ruh chak lohna a nei em? Congenital Myopathy chungchang i zir dawn teh ang.

I naupang tê chu a tlêm deuh, nunna nei lo ang maiin i inhria ngai em? A nih loh leh doctor-te chuan an pian hnu lawkah an taksa ruh chungchâng eng emaw an sawi em? Hetiang thil i hriat hian tlem a hlauhthawn hi thil pangngai a ni. Vawiin hian heng symptoms thlen thei genetic condition kan sawi dawn a, mahse a tam vak lo.

Congenital Myopathy hi eng nge ni?

A awlsam zawngin sawi ila, Congenital Myopathy hi genetic condition a awm lo hle. Hei hian kan taksa ruhte a tichak lo hle. ‘Congenital’ tih thumal hi ‘pian atanga awm’ tihna a ni. ‘Myopathy’ tih awmzia chu ‘thau natna’ tihna a ni. Chuvângin, he natna nei naute hi an pian chuan an taksa ruhte chu taksa ruh (muscle tone) hniam tak a ni . An taksa chu a hrual ang maiin an inhria. Hei hi damdawi lamah pawh ‘Hypotonia’ kan ti bawk.

He taksa chak lohna bakah hian symptom dang pawh hmuh tur a awm thei bawk. Entir nan:

• Ruh lama harsatna (i.e., ruh chak lo emaw ruh inmil lo emaw) .
• Thâwk harsa
• Nau hnute pek leh ei harsat

Heng symptoms te hi a chang chuan pian tirh atangin hmuh theih a ni. A nih loh leh, nausen lai emaw, naupan lai emaw pawhin an lo lang thei bawk. Nu emaw, pa emaw chuan naute piang thar chu che thei lo leh nunna nei lova muhil an hmuh chuan an hlauthawng ang tih han ngaihtuah teh.

Congenital myopathy chi hrang hrangte chu engte nge ni?

Congenital myopathy hi chi hrang hrang paruk vel a awm a. Tin, chi dang, hmuh tur awm lo tak tak pawh hmuhchhuah a ni bawk. A chi tin hi a lan chhuah dan, natna nasat dan, enkawl dan tur leh damlo tana prognosis-ah te a inang lo thei a ni.

Tunah chuan heng chi lian paruk te hi chipchiar deuhin han thlir ila.

Central Core natna a ni

Hei hi congenital myopathy chi khat zingah chuan a tam ber a ni. Central Core Disease hi myopathy chi khat Core Myopathy an tih a ni. A tlangpuiin naute hi limp, a nih loh leh hypotonia neia piang an ni. Heng naupangte hian milestone (thut leh rolling over ang chi) siam chhuah kawngah tihkhawtlai an nei thei. An kut leh keah chak lohna tlemte an nei thei bawk. Thu lawmawm tak chu he chak lohna hi hun kal zelah a zual zelin a lang lo. Central Core Disease hi RYR1 an tih gene a mutation vang a ni.

Minicore/Multicore natna a ni

Hei hi myopathy chi dang a ni a, a hmaa kan sawi tawh ‘Core Myopathy’ nen hian category khata tel a ni. Subtype engemaw zat a nei bawk. ``Minicore Disease'' emaw ``Multicore Disease'' emaw an ti bawk. Heng subtype tam takah hian kut leh keah chak lohna nasa tak hmuh tur a awm.Tin, ruhro (spine) curvature, chu chu `(Scoliosis)` tih hi hmuh tur a awm fo bawk. Thâwk harsa pawh a awm fo a, mit chetna a tichhe thei bawk. Hei hi a hmaa kan sawi tawh `(RYR1)` gene emaw gene dang emaw a mutation vang pawh a ni thei.

Nemaline Myopathy natna a ni

Nemaline Myopathy hi pianpui myopathy dang, a tlangpuiin a awm ve bawk. Hetiang natna vei naute hian thawk harsatna leh chaw pek harsatna an nei tlangpui. Tin, an hmai, kawr, kut leh keah chak lohna an nei fo bawk. Hei bakah hian ruh lama harsatna (skeletal complication) scoliosis ang chi an nei thei bawk. Nemaline Myopathy hi gene hrang hrang zinga pakhata mutation avanga lo awm a ni a, chung zingah chuan NEM2, ACTA1, leh TPM2 te pawh an tel.

Centronuclear Myopathy natna a ni

Hei hi congenital myopathy chi khat a ni lo hle. `(Centronuclear Myopathy)` symptoms te chu i naute kut, ke, leh hmai chak lohna, mitmeng tla, mit chetna lama harsatna te a ni. Vanduaithlak takin he chak lohna hi hun kal zelah a zual zel thin. Genes `(DNM2)`, `(BIN1)`, emaw `(RYR1)`-a mutation avanga lo awm a ni.

Myotubular Myopathy a awm a

Myotubular Myopathy hi pianpui myopathy hmuh tur awm lo tak a ni a, naute mipa chauh a vei tlangpui. Chutiang a nih chuan taksa chu a flaccid hle a, a chak lo hle bawk. Thâwk harsa leh ei harsa pawh a awm fo. Tin, osteopenia an tih hi a awm fo bawk. Lungchhiatthlak takin naupang tam tak chu an dam kum khatnaah an dam khawchhuak lo. Hei hi MTM1 an tih gene-a mutation awm vang a ni.

Fiber-Type Disproportion Myopathy pianpui atanga lo chhuak

Hei pawh hi thil awm lo tak a ni. `(Congenital Fiber-Type Disproportion Myopathy)` pawh hi limp atanga tan a ni. A lan chhuah dan chu hmai, kut leh ke-ah chak lohna te, thawk harsatna te a ni. Nausen tam zawk chu nasa takin nghawng nei mah se, an thawk dan chu kum upat deuh deuhin a ṭha chho deuh thei a ni. Hetiang natna vei naupangte zingah hian gene `(TPM3)`, `(ACTA1)`, `(TPM2)`, `(MYH7)`, leh `(RYR1)`-a mutations hmuhchhuah a ni.

Congenital myopathy natna lan chhuah dan tlangpui chu engte nge ni?

Kan sawi tawh ang khan heng congenital myopathies te hi a chi hrang hrang a zirin a symptoms hi a danglam thei a ni. Tin, pian tirh laia hmuh theih emaw, nausen lai emaw, naupan lai emaw pawhin an lang thei bawk. Mahse, a lan chhuah dan tlangpui thenkhat chu hmuh fo thin a awm. Anni chu:

• Hypotonia: I fa taksa ruhte chu chak lo leh nunna nei lo anga inhria. Hei hi hun kal zelah a pung thei a, a then phei chuan a tlahniam thei bawk.
• Muscle chak lohna: a bik takin naupangte zingahKawr, kekawr, leh hip (proximal muscles) te hi a chak lo ber a ni.
• Thâwk harsa: Thâwk ṭanpuitu taksa ruhte a chak lo deuh deuh chuan thawk harsa i ti thei a, i rilruah a tight tih i nei thei bawk.
• Hmasawnna tlai: Naute thanlenna atana thil pawimawh tak tak, thut, kekawr, ding leh kal te hi beisei hun takah a thleng lo. Entîr nân, he naute hian an kum rualpui naute dangte’n an tih lai hian an lu chawi chungin harsatna a nei thei a ni.
• Chaw pek harsatna: Nipple emaw bottle emaw atanga hnute hnek harsa, spoon hmanga ei harsa, chaw ei harsatna, tui in tur. Hei hian taksa rihna a ti tlahniam thei bawk.
• Tlu/Tlu: I upat deuh deuh chuan i taksa ruh chak loh vangin i kal laiin i tlu leh tlu fo thei.

Congenital myopathy hi engte nge ni?

Dik tak chuan heng congenital myopathies tam zawk hi a chhan ber chu gene bik inthlak danglamna a ni a, chu chu mutations an ti a ni. Heng genes te hi kan taksa chhunga thil awm zawng zawng thunun thei tur thupek tlemte ang mai an ni. Recipe ang maiin han ngaihtuah teh. Chu recipe hmun khatah chuan tihsual a awm chuan dish pumpui chu a chhe thei a ni lawm ni? Chutiang chu genes inthlak danglamna nen pawh a ni. Heng genes te hi a inthlak chuan naupang ruh (muscles) te, ruh tichaktu nerve te, a chang chuan naupang thluak te a nghawng thei a ni. Hei vang hian chutiang taksa chak lohna te chu a lo awm thin.

Engtin nge congenital myopathy hi hmuhchhuah a nih?

I naute a pian veleh neonatal unit-a specialist doctor (`Neonatologist`) emaw, naupang enkawltu (`Pediatrician`) emaw-in a enfiah tlangpui ang. Condition an rinhlelh chuan test thenkhat an order thei a, chu chuan an natna hmuhchhuah chu an finfiah thei a ni. I naute chu neurology lama mithiam (`Neurologist`) leh genetics lama mithiam (`Geneticist`) hnenah pawh an refer thei bawk.

Heng test-ah hian:

• Thisen test: Hei hian enzyme pakhat ``Creatine Kinase'' tih chu a level sang em tih a enfiah thei a, chu chu thisenah hian taksa ruh a chhiat chuan a chhuak thin.
• Electromyogram (EMG) test: EMG hian i fa taksa peng hrang hrang electrical activity a teh thei a. Hei hian taksa ruhte hnathawh that dan a teh a ni.
• Muscle Biopsy: Hei hian i fa taksa peng tlemte tak tak lak a, microscope hmanga enfiah a huam a ni. Hei hian taksa peng hrang hranga inthlak danglamna awmte hriat theihna turin a pui thei a ni. Hei hi operation tenau ang mai a ni a, mahse ngaihtuahawm a ni lo.
• Genetic Testing neih dan tur: 1.1.Hei hi natna chiang taka hriat theihna tura puitu ber test a ni. Myopathy thlentu gene-a inthlak danglamna, a nih loh leh mutations eng pawh a hmu thei a ni.

Congenital myopathy enkawl dan tur chu engte nge ni?

Thudik tak chu heng congenital myopathy condition te hi damdawi a awm lo. Hei hi a lungchhiatthlak viau mai thei, mahse a dik a ni. Mahse, a natna lan chhuah dan thunun thei tur leh i fa chu a nun tha thei ang bera a nunpui thei tur enkawlna a awm.

Chi thenkhat, ``Central Core Disease'' leh ``Minicore Disease'' te tan chuan damdawi ``Albuterol'' tih hman a awm thin. Hei hi zirchianna stage-ah la awm mah se, naupangin a tawn chak lohna chu eng emaw chen tihziaawmna tura puitu a ni tih hmuhchhuah a ni. Mahse hei hi natna damdawi a ni lo tih hre reng ang che.

Chi dang zawng zawng enkawlna hi a tlangpuiin naupang natna lan chhuah dan enkawlna tur a ni. He enkawlnaah hian hetiang hian a tel tur a ni:

• Orthopaedic treatment: A tul chuan ruh lama harsatna awmte enkawl. Entirnan, scoliosis ang chi thil atan chuan operation emaw, supportive device hman emaw a ngai mai thei.
• Physical Therapy: Hei hi a pawimawh hle. Exercise leh technique hrang hrang a zirtir a, chu chuan taksa ruh chakna a siam a, a che tha zawk a, naupang balance tha zawk a siam bawk.
• Occupational Therapy: Hei hian naupang chu nitin hna hrang hrang mahni inrintawkna nei tura puih a huam a ni. Entirnan, incheina, ei leh in, inkhelh, leh lehkha chhiar leh ziak ang chi thila tanpui.
• Speech Therapy: Thusawi harsatna leh ei leh in lama harsatna te tanpui nan.

A pawimawh ber chu heng enkawlna zawng zawng hi naupang mamawh ang zela siam vek a ni a, specialist doctor leh therapist te kaihhruaina hnuaiah team anga kalpui a ni.

Hei bakah hian experimental treatment dang, gene therapies te pawh siam chhuah mek a ni a, hengte hian nakin lawkah rah tha tak a chhuah ngei kan beisei.

Ka fa hian congenital myopathy a vei loh nan kawng a awm em?

Hei hi zawhna harsa tak a ni tak zet a ni. Congenital myopathy hi genetic mutation avanga lo awm a nih avangin he natna hi lo awm tur ven dan tur a awm lo.

Mahse, fa i nei thei tih i ngaihtuah emaw, i rinhlelh emaw a nih chuan, i tih theih ṭha ber chu i doctor nen genetic counseling chungchang leh a tul chuan genetic testing chungchang sawipui hi a ni.Fa i neih hmain he thu hi sawi hmasak a pawimawh hle a, a bik takin i chhungte zinga mi pakhatin myopathy emaw, genetic condition dang emaw a neih chuan. Genetic counselor chuan he thil hi a hrilh belh thei che a, i risk pawh a teh thei bawk.

Ka fa hian Congenital Myopathy a vei a nih chuan eng nge thleng ang?

He zawhna hi chhanna pakhat chauh pek a harsa a, a chhan chu naupangin congenital myopathy a neih chi hrang hrang leh natna nasat dan azirin prognosis hi a danglam thei hle a ni.

Congenital myopathy hian hun rei tak chhung ruh lama harsatna a thlen thei a, chungte chu:

• Joint-a movement tlahniam.
• Hip harsatna a awm.

Tin, dam rei zawng hi mi hrang hrangah a inang lo bawk. I naute hian thawk harsatna nasa tak a neih chuan thawk lama harsatna emaw, pneumonia ang chi harsatna emaw a nei thei a ni. A nasat chuan hengte hi nunna atana hlauhawm tak a ni thei.

Mahse, naupang thenkhat, natna vei na lo tak takte chu an lo puitlin chuan mi pangngaiah an awm thei a, nun pumhlum an hmang thei bawk. Sikul an kal thei a, an khel thei a, anmahni hna pawh an thawk thei bawk.

Chuvangin, i fate doctor nen an dinhmun bik chungchang hi zalen taka sawipui a pawimawh hle. Thu dik ber an pe thei ang che a, zawhna i neih apiang an chhang thei bawk ang che.

Congenital Myopathy leh Muscular Dystrophy hi eng nge an danglamna?

Muscular dystrophy tih natna pawh i hre tawh mai thei. Tin, genetic disease a ni bawk a, chu chuan taksa ruh a tichak lo hle. Mahse, an pahnih inkarah hian danglamna pawimawh tak tak engemaw zat a awm.

• A lan chhuah hun: Congenital myopathy-ah chuan nau piang emaw, nausen/naupan lai emaw a lang thin. Amaherawhchu, muscular dystrophy-ah chuan mi thenkhatin an pian tirh atangin symptoms an nei a, thenkhat erawh chuan naupan lai te, tleirawl lai te, puitling lai pawhin symptoms an nei thei thung.
• Muscle-a thil thleng: Muscular dystrophy-ah chuan muscle te chu a chhe zauh zauh a, a lo piang thar leh thin. Tin, muscular dystrophy hi natna zual zel a ni a, chu chu hun kal zelah a symptoms a na zual tihna a ni. Congenital myopathies-ah chuan taksa chak lohna hi a stable emaw, a lo thang zawi zawi emaw (a then tih loh chu) a ni tlangpui.
• Organ dang chunga nghawng a neih: Muscular dystrophy hian hun kal zelah thinlung leh lung a nghawng thei bawk. Hei hi congenital myopathies-ah chuan a awm lo (chi thenkhat tih loh chu).
• Diagnosis: Doctor-te chuan heng natna pahnih hi lab test hrang hrang hmangin chiang takin an thliar hrang thei a, a bik takin muscle biopsy hmangin an thliar hrang thei a ni.

A awlsam zawngin, congenital myopathies-ah chuan taksa chak lohna hi hun kal zelah a awm reng tlangpui a, a nih loh leh a ṭhat deuh thei bawk (a nasat chi ṭhenkhat tih loh chu). Mahse, ``Muscular Dystrophy`` hi a natna a ni a, a zual zel fo thin.

A tawp berah chuan i hriat reng tur thil (Take-Home Message) .

I naute hian hetiang natna hlauhawm tak, pianpui atanga lo piang a nei tih hriat hi phurrit lian tak leh mak tak a ni tih ka hrethiam a, thumal hmanga sawi pawh a harsa hle. A rilru a buai em em a, a rilru a buai em em bawk.

Mahse , nangmah chauh i ni lo tih hre reng ang che. Specialist team lian tak tak an awm a, chung zingah chuan doctor, physiotherapist, occupational therapist, leh speech therapist te pawh an tel a, nang leh i fate tanpui turin an lo kal a ni. An thil tum ber chu i fa chu a rei thei ang bera dam theihna tura puih a ni a, a theih ang anga nuam leh thawkrim taka awm tura tanpui hi a ni.

Hetiang diagnosis neia nun harsatnate i hmachhawn theih nan nang leh i chhungte tan support service a awm a. A châng chuan, naupang boralna i hmachhawn theih nân heng service-te hi a awm bawk. Sri Lanka ramah hian hetiang hian naupang leh chhungkaw tanpuitu pawl an awm thei a, chuvangin lo en ve teh.

Dik tak chuan i chhungkuaa mi pakhatin myopathy a vei a, fa i beisei a nih chuan i naupai hmain i doctor nen genetic testing chungchang sawipui rawh. Genetic condition nei fa neih theihna tur risk i hriat theih nan an pui thei che a ni.

He zinkawng hi harsa viau mah se, thu dik tak, damdawi lam thurawn dik tak, leh hmangaih tak takte thlawpna nen chuan hmachhawn tur chakna i hmu ang. Beiseina bansan suh. I fa tan i tih theih zawng zawng ti turin chakna i hmu ang che!

` Congenital Myopathy, Muscle Weakness, Naupan lai natna, Genetic Diseases, Hypotonia, Genetic Testing, Physical Therapy