I hmai leh i ke ruh te hi a chak lo em? FSHD (Facioscapulohumeral Muscular Dystrophy) chungchang hi han sawi ila!

A chang chuan i hmai, i kekawrte, i kut leh ke ruh te hi a chak lo deuh niin i hria em? Nuih emaw, whistle emaw i harsat pawh a ni mai thei. Heng symptoms te hi i neih chuan FSHD tih hming pu muscle weakness condition vang pawh a ni thei. Hemi chungchang hi chipchiar takin sawi ila, awlsam takin.

FSHD chu eng nge ni?

A awlsam zawngin sawi ila, FSHD hi natna a ni a, taksa ruhte chu zawi zawiin a chak lo va, a ti tlem bawk. Natna pawl lian zawk ``Muscular Dystrophy (MD)`` tih zingah a tel a ni. I hmai, i kephah leh i kut chunglam ruh (muscles) atanga intan fo thin. Mahse hun kal zelah i taksa ruh eng pawh a nghawng thei a ni. Natna rochun a ni. Mi thenkhat chuan nausen lai atang tawhin natna lanchhuahna an nei tan thei a, mahse puitling naupang takah hian a lan tan tlangpui a, a tlangpuiin kum 15, 20 leh 30 inkar a ni a , lungngai suh, hei hi damdawi a la awm lo. Mahse, i natna lan chhuah dan tur enkawl thei tur leh nun pangngaia i nun theihna tur enkawlna a awm.

FSHD chi hrang hrang a awm em?

FSHD hi chi hnih a awm a. An pahnihah hian symptoms a inang vek a, mahse natna thlentu erawh a inang lo deuh.

`FSHD1` tih chi a ni

Hei hi za zela 95-ah a thleng thin. Hei hi kan taksa cell-a a tlangpuiin a thawk thei lo gene pakhat chu a thawk nghal mai a, a lo awm ta a ni. He gene activated thar atanga protein siam hian muscle cells a tichhia a ni. Ngaihtuah teh, hei hi muhil lai kaihthawh a, hna pek a, a hlauhthawn tir ang mai a ni.

`FSHD2` tih chi a ni

A bak zaa panga (5%) chu he chi hi an ni. `FSHD1` ang bawkin hetah pawh hian activated gene atanga protein lo chhuak hian taksa ruh a tichhia a ni. Mahse, `FSHD2` hi mutation emaw, gene dang a inthlak emaw avanga lo awm a ni. He gene mutation hian inactive tur gene chu a tichak a ni. A dik tak chuan gene breaks control tu `switch` ang a ni.

He natna hi FSHD an tih hi a awm fo em?

Zirchiangtute chuan he natna hian mi sang za zinga mi pali (4) leh sawm (10) inkar a vei niin an ngai . Chu chu a tlem deuh tihna a ni a, mahse Sri Lanka-ah pawh heng damlote hi an awm thei a ni.

FSHD natna lan chhuahna chu engte nge ni?

FSHD tih hming hi Latin leh damdawi lam thumal atanga lak a ni. Chu chu heng natna lan chhuahna taksa peng hrang hrang a zirin a ni. Eng nge an nih i en ang u.

• `Facio`: Hei hian hmai tihna a ni . FSHD vei te hian an hmui phuh chhuah leh straw hmanga in tur an harsat thin. A chang chuan mit meng deuhin an mu thin. Hei hi a chhan chu an khar vek theihna tur ruh (muscles) te hian an khar thei lo a ni. Mi thenkhat chuan an nuih lai pawhin an hmai sir khatin hna a thawk tha lo ang maiin an inhria thei.
• `Scapulo`: Hei hian shoulder blade tihna a ni.FSHD hian i shoulder blade-a muscle te chu a tichak lo hle. I kekawrte i hrual hian i kekawrte chu hnunglam leh chung lam hawiin a chhuak a, thla ang maiin a chhuak a ni . Doctor-te chuan hei hi ``scapular winging'' an ti a, hei hian i kut chawi emaw, thil rit phur emaw a ti harsa thei a ni.
• Humeral: Hei hian kut chunglam a kawk a. Chu chu kekawr bul atanga elbow thlenga luang ruh tihna a ni. FSHD i neih chuan i kut hmalam (biceps) leh hnunglam (triceps) ruh te chu a pangngai lo takin a chak lo thin. Hei hian i kut chu i kekawr ipte chungah chawi sang, i sam hrual, emaw, shelf atanga thil lak chhuah te ang chi thil tih a ti harsa hle.

FSHD -ah chuan taksa peng hrang hrangte chu hun hrang hrangah a nghawng thei a ni. Entirnan, i kut dinglam chu a chak lo thei a, mahse i kut veilam erawh a chak lo thei. A nih loh leh kut pahnih chu a chak lo thei a, mahse pakhat chu a dang aiin a chak lo zawk thei bawk.

A lan chhuah dan tlangpui dang thenkhat:

• Pum hnuai lam ruh chak lohna avanga pum chhuak.
• A hnute ruh chu a sunken in.
• Wrist chak lo emaw, sagging emaw.
• Chauhna rei tak a awm. Chu chu chau reng reng tihna a ni.
• A chang chuan natna nasa tak a awm thin . He natna hi taksa ruh leh ruhkawr ah a awm thei.

FSHD hian eng side effect nge a neih theih?

He natna hian side effect dang a nei thei bawk. Entîr nân, mit hmuhna, hriatna, leh kalna chu a nghawng thei a ni . FSHD vei zaa sawmhnih (20%) vel chuan kum 50 an tlin hnuah wheelchair an hman a ngai dawn a ni.

Thil awmdan bik dang:

• Coats disease: Mit chhungril lam (retina)-a thisen kalna kawng dik lo awm. Hei hian mit hmuhna a nghawng thei a ni.
• Exposure keratitis: Mit hmalam (cornea) transparent part chu a vawt a, chu chu mit khar tha thei lo vang a ni. Hei hian mit a ti sen thei a, mit a ti na thei bawk.
• High-frequency sound (`High-frequency hearing loss`) hriat harsa. Chumi awmzia chu aw hniam tak takte chu a ri tlem zawk tihna a ni.
• `Trendelenburg gait`: Thigh muscle chak lohna chuan a natna lam hawiin swaying gait a siam thin.
• `Footdrop`: Ke chu chunglam hawia ben theih loh. Hei hian ke chu kea kal laiin leiah a hruai a, i tlu thei a ni.
• Lordosis: Hnunglam hnuai lam hmalam hawia inher.
• Scoliosis: Ruhro chu a sir lam hawia inher chhuak.

FSHD hi engte nge ni?

Kan sawi tawh ang khan FSHD hi a chhan lian ber pahnih a awm a. An pahnih hian genes nena inzawm an ni.

`FSHD1` hi a hnuaia mi ang hian siam a ni.Kan taksa cell-a gene `DUX4` hi a tlangpuiin inactive a ni. Chu chu a thawk lo tihna a ni. Mahse he gene hi a activate chuan a siam proteins te hian muscle te chu a tichhe vek a ni. Hun a kal zel a, a natna nei taksa pengte chu a chak lo va, a lo tlem bawk (atrophy).

`FSHD2` hi kan taksaa `SMCHD1` gene a mutation vang a ni. He `SMCHD1` gene hian a tlangpuiin `DUX4` gene chu a thawk thei lo turin a pui thin. Gate khar ang mai a ni. Mahse `SMCHD1` gene a inthlak chuan a thawk tha lo. Tichuan, `FSHD1` ang bawkin activated `DUX4` gene atanga protein siam te hian taksa ruh a tichhe thin.

Engtin nge FSHD hi rochun a nih?

He natna hi autosomal dominant takin a inherit ber a ni. Chumi awmzia chu nu leh pa pakhatin gene pangngai lo copy khat nei mah se, an fate chuan natna hi an la vei thei tho tihna a ni. FSHD vei chuan a fate hnenah he gene danglam tak hi a thlen theihna chance zaa 50 (50%) a nei a ni. Chumi awmzia chu fa pahnih an neih chuan pakhatin natna kai theihna chance a nei tihna a ni.

Mahse, FSHD1 vei zinga zaa 30 vel (30%) vel chuan chhungkaw history-ah he natna hi an nei lo. Zirchiangtute chuan hei hi naupai hnua mutation thar lo awm vang a ni thei niin an ngai. Hei hi mosaicism an tih dinhmun avang pawh a ni thei. Mosaicism chu mi pakhata cell awmte genetic makeup a danglam chuan a ni. A awlsam zawngin taksaa cell thenkhat chuan buaina siamtu gene an nei a, thenkhat erawh chuan an nei lo.

FSHD vei theihna tur risk factors te chu engte nge ni?

He natna vei theihna tur risk factor ber chu chhungkaw history a ni. Chumi awmzia chu i nu emaw, i pa emaw, i unaute emaw hian he natna hi an vei a nih chuan i vei theihna a sang zawk tihna a ni.

Engtin nge FSHD hi hmuhchhuah a nih?

Doctor chuan taksa enfiahna kimchang a pe hmasa ang che. Tichuan i chhungkuaah hian heng symptoms emaw FSHD emaw hi an nei tawh em tih an zawt ang che.

Chu bakah, hetiang test hi i ti thei bawk:

• Thisen test: Hengte hian enzyme level `(serum creatine kinase)` leh `(serum aldolase)` tih te an en ber a. Heng enzyme level te hi a san chuan taksa peng hrang hrangah harsatna a awm tih hriattirna a ni thei.
• Neurological tests: Heng test te hi nervous system condition dang awm lo tura tih a ni. I reflex leh coordination ang chi thil an check thin. Tin, taksa chak lohna pattern leh i taksa ruh a inzawm leh tight loh (electromyography) te pawh an zawng bawk.
• Muscle biopsy: He test-ah hian muscle tissue sample te tak te lak a ni a, microscope hmangin enfiah a ni. Hei hian taksa ruh (muscle cells) chhiatna a lantir thei a ni.
• Genetic test hrang hrang: 1.1.Hei hi FSHD awmna leh a chi hrang hrang dik taka finfiah thei test awmchhun a ni. `DUX4` gene-ah hian harsatna a awm leh awm loh a hre thei.

FSHD hi eng enkawlna nge ni?

Kan sawi tawh ang khan FSHD hi damdawi a awm lo. Mahse, doctor-te’n symptoms enkawl dan tur leh nun awlsam zawka siam theihna tura an rawt dan tlemte a awm a:

• Physical therapy: Hei hian exercise leh treatment te a huam a, chu chuan taksa ruh chakna leh ruhkawrte a che tha thei ang.
• Orthotic devices to support weak muscles: Entirnan, pum ruh chak lote tan corset, back supports, leh braces hmanga shoulder leh arm natna tihziaawmna tur. Tin, i kekawrte tan orthotics hmangin kea kal awlsam zawk nan leh tlu tlem zawk nan hman thin ang che.
• Surgical scapular fixation hi a ni a, a range of motion a ti tha hle. Hei hian shoulder blade chu a rilruah a fix a, kut chu chawi sang a awlsam phah hle.

FSHD vei dam rei zawng chu engzat nge ni?

Hei hi mi tam takin an zawh thin a ni. A tam zawkah chuan FSHD vei te hi dam chhung pangngaiin an nung thei a ni. Chu chu he natna hian dam chhung a ti tawi lo tihna a ni. Ngaihtuah buai suh.

Engtin nge ka in enkawl ang?

FSHD hi nun tidanglam thei natna a ni a, tunah hian damdawi a la nei lo. Mahse, he natna nêna nunpui tûra ṭanpui thei tûr rawtna ṭhenkhat chu hetiang hi a ni:

• FSHD nei midangte nen inzawmna siam rawh. Hei hi thil awm lo tak a nih avangin mi tam takin an hre lo. I dinhmun sawi i duh lo mai thei a, mahni chauha awm leh inhlat takin i inhria thei bawk. Nangmah ang bawka tawk mek midangte nena inbiakna neih hian tanpuina nasa tak a ni thei. Sri Lanka ramah hian hetiang damlote tan hian support group a awm thei.
• Occupational therapist hmu rawh. FSHD hian mahni chauha i tih theih tur thilte chu a tikhawtlai a ni. I zalenna hloh chu a lungchhiatthlak thei a, a hlauhawm thei bawk. Occupational therapy hian he normal thar hi i insiamrem theih nan a pui thei che a, nitin hna awlsam zawka i thawh theih nan a pui thei bawk.
• Exercise light ``aerobic`` engemaw zat ti rawh. Tui leh kea kal ang chi exercise te hian i che thei a ni. Chubakah, exercise hian stress tihziaawmna a pui bawk. Mahse, exercise program i tan hmain i doctor nen inbiakna neih hmasak phawt ang che. A chhan chu exercise thenkhat hi he condition atan hian a tha lo.

Engtikah nge ka doctor ka hmuh ang?

Muscle chak lohna thar i neih chuan, emaw, i chak lohna chu a zual deuh niin a lang a nih chuan doctor pan nghal rawh. Tin, natna lan chhuah dan dang, khawsik leh thawk harsatna te pawh fimkhur tur a ni.

Doctor hnenah eng zawhna nge ka zawh ang?

Doctor hnenah hetiang zawhna hi i zawt thei ang:

• Ka chhungkuaah hian tumah FSHD nei an awm lo. Engvangin nge hei hi ka hmuh?
• Tuna ka harsatna tawhte enkawlna tur engte nge ni?
• Ka symptoms te hi a zual zel dawn em ni?
• Engtiang chiahin nge ka symptoms te hi a na zual ang?
• Ka chhungte hian genetic testing an nei tur em ni?
• Eng support group nge min pui thei ang?

FSHD i neih thu i hriat chuan, "Aw, hei hi ka taksa ruhte hian hun rei tak chhung hna a thawk tha lo a, ka nuih theih loh chhan leh ka kut ka phar theih loh chhan a ni," tiin i rilru a hahdam mai thei. Tunah chuan eng nge dik lo tih i hriat tawh avangin, a hnua thil thleng tur chu i hre duh a, i buai hle mai thei. Zawhna i neih chuan i doctor hi i beisei tur hriat theihna hmun tha ber a ni.

He thawnthu atang hian eng thuchah nge in lama kan hruai duh?

FSHD hi natna zual zel a ni a, a tir lamah chuan hmai, ke leh kut ruh te a tichak lo hle. Rochun a ni thei a, a nih loh leh genetic mutation thar avanga lo awm a ni thei bawk. A damdawi awm lo mah se, a natna lan chhuah dan enkawl leh i mamawh ṭanpuina dawn hian nunphung ṭha tak i neih theih nan a pui thei che a ni. Heng symptoms te hi i neih chuan a rang thei ang bera damdawi lam pan a pawimawh. Tin, he zinkawngah hian nangmah chauh i ni lo tih hre reng ang che. He dinhmun hi hriatna dik tak, thlawpna dik tak leh rilru put hmang dik tak nena hmachhawn turin chakna i hmu ang che!

` FSHD, Facioscapulohumeral Muscular Dystrophy, taksa ruh chak lo, taksa ruh natna, genetic natna, kekawr na, hmai ruh