Natna hmuh tur awm lo, i tisa chu ruh-ah a chantir tih i hre tawh em? Fibrodysplasia Ossificans Progressiva (FOP) chungchang hi han sawi ila.

Vawiin hian dinhmun mak leh hmuh tur awm lo tak kan sawi dawn a ni. Ngaihtuah teh, i taksa ruh, chu chu tisa chu zawi zawiin ruh, chu chu ruh-ah a lo chang ta a nih chuan engtin nge ni ang? Ngaithla chu a mak khawp mai, a ni lawm ni? He natna hi Fibrodysplasia Ossificans Progressiva an ti a, doctor-te chuan FOP (Fibrodysplasia Ossificans Progressiva) an ti a ni. Hei hi a buaithlak tak zet a, nghawng nasa tak a nei bawk. Chuvangin awlsam takin, i hriatthiam theih tur angin i sawi ang u.

FOP chu eng nge ni? A awlsam zawngin...

FOP (Fibrodysplasia Ossificans Progressiva) hi thlahtute atanga lo chhuak a ni . Thil thleng chu kan taksa chhunga thau leh inzawmna (connective tissue) te, tendon leh ligament te hi zawi zawiin ruh ah an chang ta a ni. A pawimawh ber chu he ruh thar hi kan ruhro *pawn lamah* a lo piang a ni. Taksa chhunga ruhro pahnihna lo thang lian ang mai a ni.

Hetiang ruh siam dan pangngai lo hian taksa chetna tur a tikhawtlai zauh zauh a ni. Hun a kal zel a, kea kal te, tlan te, zuang emaw a harsat phah thei a, ke leh ke pengte chet a harsat phah thei bawk. Heng symptoms te hi naupan lai atanga tan a ni tlangpui . Kawr leh kekawrte ang chi hmunah an lang hmasa a, chumi hnuah taksa hnuai lam thlengin an darh leh thin.

He dinhmun hi kum zabi 17-na leh 18-naah khan doctor-te hriatah a lo lang hmasa ber a ni. A hnuah chuan "myositis ossificans progressiva" (muscle chu ruh lamah a inthlak chho zel) an ti bawk. Mahse, a hnu lama zirchianna, a bik takin Johns Hopkins University-a Dr. Victor Maciusik-a zirchianna chuan Fibrodysplasia Ossificans Progressiva (Fibrodysplasia Ossificans Progressiva) tih hming a pu ta a, chu chu taksa ruh chauh ni lovin, taksa peng nem tak takte pawh a nghawng avangin. Kum 2006-ah khan a thlentu gene mutation bik chu hmuhchhuah a ni.

He natna hi tuin nge vei? Engtiang chiahin nge a hluar?

FOP hi natna hmuh tur awm lo tak a ni . Khawvel puma mi maktaduai hnih zinga pakhat velin he natna hian a nghawng niin an chhut. Chumi awmzia chu Sri Lanka ang ramah chuan heng damlote chhiar thiam hi kut khata kut zungtang aia tlem zawk an awm tihna a ni.

Tu pawhin he natna hi an nei thei a ni. Hei hi a chhan chu genetic mutation thar avanga lo awm a nih fo vang a ni. Hei hian a awmzia chu nu emaw pa emaw atanga rochun ni lovin, embryo cell te inthen darh avanga random change avanga lo awm a ni tihna a ni. Genetic mutations hi hetiang hian a thleng tih chiang takin kan sawi thei lo. A châng chuan, meizuk leh chemical hman ang chi thilte hian a tlangpuiin genetic mutations a thlen theihna a tipung thei a ni. Mahse FOP chungchangah chuan random event a ni fo thin. Nau i beisei a nih chuan i doctor nen inbiain genetic counseling lak a tha a, genetic diseases chungchang i hre thei ang.

Engtin nge FOP hian taksa a nghawng?

FOP vei taksa ruh leh connective tissue te chu ruh ah a inthlak zauh zauh thin avangin chetna a tlem thin.Hetiang dinhmun hi naupan lai atanga kawr leh kekawrteah a intan a, zawi zawiin taksa chhungah a darh zau zel a ni.

A pawimawh ber chu taksaa hliam (trauma) eng chi pawh hian he natna hi a tichhuak thei a, chu chu ruh thar siam chakna a ni tihna a ni. He hliam hi thil lian tham a nih a ngai lo. Tlu tenau emaw, operation emaw, khawsik emaw, flu emaw ang chi natna avanga lo awm thei a ni. Hetih lai hian a natna hmuna ruh te chu a hring a, a inflamed (myositis) a ni. He hliam hi ni engemaw zat atanga thla tam tak chhung a awm thei.

Ngaihtuah teh, naupang tê tê chu inkhelh laiin a tlu emaw, khawsik a neih emaw chuan ni rei lo têah an dam leh tlangpui. Mahse FOP vei naupang tan chuan chutiang thil tenau tak pawh chuan chu ruh thar siamna chu a ti tan thei a, ‘flare-up’ .

Naupangte hian ei leh in leh tawng harsa an nei thei. Hei hi a chhan chu jaw area-a ruh thar lo piang hian an hmui a hawn tha thei lo. Hei hian malnutrition a thlen thei bawk . Ruh thar lo piang chhuak chu rilru chhunga ruhro vel a awm chuan, chu chuan lungte chu a ti na thei a, thawk pawh a ti harsa thei a ni .

Eng thilin nge FOP hi a thlen?

FOP thlentu ber chu gene ACVR1 a mutation vang a ni. He ACVR1 gene hian kan taksa chu taksa ruh leh ruhroa awm protein pakhat bone morphogenic protein (BMP) type 1 receptor siam turin a hrilh a ni. A awlsam zawngin sawi ila, he BMP hian ruh leh ruh te hi engtin nge an lo thanglian ang tih leh engtikah nge an lo seilian tih a thunun a ni.

ACVR1 gene-a mutation a awm chuan he receptor hi light switch "on" reng ang mai a ni. Chu chu a off tur lai pawhin a on reng a, BMP protein a siam chhunzawm zel tihna a ni. Hei hi FOP symptoms thlentu a ni.

FOP hi autosomal dominant condition a ni a, a rilru a hah hle . Chumi awmzia chu nu leh pa pakhat chauhvin altered gene nei mahse naupangin natna hi a rochun thei tihna a ni. Nu leh pa zinga pakhatin FOP thlentu gene an neih chuan naupangin a rochun theihna chance 50% a nei a ni.

Mahse, a tam zawkah chuan FOP hi `ACVR1` gene-a mutation thar (`de novo mutation`) avanga lo awm a ni. Hei hian he gene mutation hi random takin a thleng tihna a ni a, chhungkuaah hian tumahin he natna hi an nei tawh lo tihna a ni.

FOP natna lan chhuahna chu engte nge ni?

FOP-a thil langsar ber chu taksa ruh, ruh (tendon) leh ruh (ligament) ang chi thilte chu ruhah a chang zauh zauh thin hi a ni. Doctor-te chuan hei hi `heterotopic ossification` an ti a. Hetiang kalphung hi naupan lai atang tawhin kawr leh kekawrte hmunah a intan thin. Tichuan, hun kal zelah taksa peng dangah a darh zel a. Mi thenkhat tan chuan he ruh siam hi a rang thei hle a, thenkhat tan chuan a zawi hle thei bawk. Mi tin a inang lo.

Symptoms chu a hmaa kan sawi tawh ‘flare-ups’ angin a lang thin.Nen. Chu chu thil engemaw takin taksa a tihchhiat (hliam, surgery, khawsik ang chi) a taksain a chhân lêtna nen a ni. Hetih lai hian a natna hmun chu a lo hring a, a na bawk. `bone morphogenic protein type 1` receptor hian protein a siam chhunzawm zel avangin ruh thar leh ruhro (muscles and tendons) chungah ruh thar a lo piang ta a ni. Ruh thar a lo awm hnuah chuan a hring chu a tlahniam ta a ni. Hei hi ni engemaw zat atanga thla khat thleng a daih thei.

Key feature: Ke ruh lian (big toe) a inthlak danglamna

FOP chhinchhiahna langsar ber pakhat, pian tirh atanga hmuh theih chu ke ruh lian (big toe)-a thil awm lo a ni. A tlangpui aia tawi zawk a ni thei a, a chang chuan chhung lam hawiin a inher thei a, ke ruh pahnihna chungah pawh a awm thei bawk. He thil dik lo hi symptom dang a lan hmain hriat theih a ni. FOP vei zinga 50% vel pawhin an ke ruh lianah pawh hetiang chiah hian thil danglam an nei ve bawk.

A lan chhuah dan dangte:

FOP chhinchhiahna dang thenkhat chu:

• Muscle, ligament leh connective tissue chunga ruh thar siam.
• Mobility tlahniam (crawling ai chuan i hnute chunga kal, joint stiffness, joint locking).
• Chaw ei leh thusawi harsa.
• Hriatna lama harsatna nei.
• Ke ruh lian tak pianzia danglam tak.
• Hun kal zelah che thei lo tak tak.
• Taksa hmun thenkhat chu a sen a, a sen, a na a, khawih pawhin a lum a, tumor ang maiin a hring bawk.
• A ruhro (`Scoliosis` emaw `Kyphosis` emaw) a curvature (`Scoliosis` emaw `Kyphosis` emaw).
• Kawr, kekawrte leh hnungzang nêm tak takte a hring chhuak.

Natna a lo zual zel chuan FOP vei chuan a che thei lo thei vek a ni . Ruh thar lo thang lian hian nerve a press thei a, natna leh a tikhauh thei bawk. Hetiang dinhmunah hian thawkna lama natna leh thinlung chak lohna a awm theihna a sang hle . A nasat chuan mi ṭhenkhat chuan ngaihtuahna leh zir kawngah harsatna an nei thei bawk .

Engtin nge FOP hi hmuhchhuah a nih?

FOP hmuhchhuahna chu doctor taksa enfiahna atanga tan a ni . I symptoms te chu chhinchhiah a ni ang a, i medical history pawh enfiah leh a ni ang. Chu bakah, thisen sample lakna tur genetic test , natna thlentu genetic mutation awm leh awm loh enfiah a ni bawk ang. X-ray hmang hian ruh leh connective tissue-a ruh thar lo thang leh awm loh enfiah theih a ni bawk.

Mahse, FOP hmuhchhuah hi doctor tan chuan thil harsa tak a ni thei . A tlem em avangin doctor tam tak chuan an dam chhungin damlo chu an hmu tlem hle. Chumi avang chuan FOP symptoms hi a chang chuan natna dang, cancer, juvenile fibromatosis (soft tissue emaw vun natna lo thang lian), emaw fibrous dysplasia (ruh lian chi khat) te nen pawh a inthlau thei a ni.

Pawimawh tak: FOP-a lump chu tumor ang maia lang mah se, sample (biopsy) lak a tha lo .. A chhan chu chutianga tih chuan natna a tizual thei a, ruh thar siam (flare-ups) a tipung thei bawk. FOP tumor biopsy hi a chang chuan cancer tumor ang maiin a lang thei.

Chuvangin, FOP dik taka hriat theihna tur thil pawimawh pahnih chu ke ruh lian (big ke ruh)-a thil awm lo leh taksa peng hrang hranga soft tissue swelling awm thin hi a ni.

FOP enkawl dan tur chu engte nge ni?

FOP damdawi a awm lo . Mahse, enkawlna hian natna lan chhuah dan, a bik takin ruh siam tan tirh atanga flare-ups lo awm thin te control a tum a ni. Research leh clinical trial neih mek a ni. Mi pakhatin a natna lan chhuah dan chiang tak a zirin enkawlna kawng hrang hrang a inang lo thei.

FOP enkawlna atana hman theih thenkhat chu:

• Khawtlang, rilru lam, leh hriselna lama puihna leh genetic counseling dawng rawh .
• Taksa mamawhna atana pui turin occupational therapy-a tel.
• Thluak lam natna laka invenna atana antibiotics (doctor-in a tih angin) ei.
• Flare-ups laiin a hring leh natna tihziaawmna turin damdawi (e.g. corticosteroids , nonsteroidal anti-inflammatory medication , muscle relaxants) hman.
• Mobility aids hman (e.g., wheelchair) hman dan.
• A chang chuan brace vuah thin.

Engtin nge flare-ups tih tlem theih ang?

FOP symptoms flare-ups ven nan chuan muscle leh tissue tihchhiat loh a pawimawh . Heng flare-ups te hi taksain thil buaithlak tak (surgery, hliam, natna) a tawn hian a thleng thin. I risk tihtlem nan a hnuaia mite hi i ti thei ang:

• I hliam thei, i tlu thei, a nih loh leh ruh i tihchhiat theihna dinhmunte chu pumpelh rawh. Hriselna chungchang hi i ngaihtuah fo tur a ni.
• Vaccine lak dawnin vun hnuaia thau tissue-ah injection (subcutaneous injection) intramuscular injection hmang lovin injection pek tur a ni. Hemi chungchang hi i doctor nen sawiho rawh.
• Biopsy emaw, diagnostic atana tissue lakchhuahna test emaw tih loh tur. I doctor hnenah test dang (alternative test) chungchang zawt rawh.
• Ha enkawlna lai hian jaw area-a traction tam lutuk leh local anesthetic injection a theih ang anga tih loh tur a ni. Hemi chungchang hi dentist hnenah hriattir tur a ni.
• Viral natna, flu leh khawsik ang chi laka inven nan hma la rawh.

FOP hi pumpelh vek theih a ni em?

FOP hi genetic mutation avanga lo awm a nih avangin a pumpelh kim thei lo . Naupangin genetic disease a neih theihna tur hlauhawmna hriatthiam nan i doctor nen genetic testing chungchang i sawi thei ang.

FOP nena i awm hian eng nge i beisei theih ang?

FOP hi dam chhung zawnga dam theih loh natna a ni . Natna lan chhuah dan na tak tak, a bik takin thawkna lama natna hrik leh kal theihna a hloh chhoh zel avangin prognosis a tha lo hle. FOP vei dam rei zawng hi puitling naupang takah a tlahniam tlangpui. Kum 30 an tlin chuan mi tam tak chu an che thei tawh lo . FOP vei te thihna thlentu ber chu thawkna lam natna (respiratory infection) a ni.

Mahse, zirchianna leh clinical trial-ah chuan enkawlna thar an hmu chhunzawm zel a, hengte hian beiseina a pe a ni.

Engtin nge i in enkawl ang?

FOP i vei tih hriat a nih hnuah i doctor nen thawhhona tha tak neiin i tan leh i symptoms te tana tha tur treatment plan i siam a ngai dawn a ni. Genetic counselor chuan diagnosis hriatthiamna a pe thei che a, nang leh i chhungte tan emotional support a pe thei bawk. Flare-ups hi a na thei a, a nuam lo thei bawk. Mahse, i doctor chuan heng symptoms te hi enkawl dan tur a rawn rawt thei a ni.

Engtikah nge Doctor i hmuh ang?

Doctor i pan tur a ni a, chu chu:

• Natna nasa tak a awm chuan .
• A hring a tlahniam lo a nih chuan.
• I kal theihna a tlem a, i ruh a nghet lo a, i ruh a nghet lo a nih chuan.
• I ei theih loh chuan.

PAWIMAWH: Thâwk harsa i neih chuan 1990 call nghal la, emergency room hnai ber pan rawh.

I doctor zawh tur zawhna

Hetiang diagnosis rare tak i dawn hian, "Tunah engtin nge ka tih ang?" I doctor chuan i hriselna a enfiah reng ang a, a tul angin a pui bawk ang.

I doctor hnenah zawhna i zawt thei ang:

• Nitin hna ka thawh theih nan eng mobility device leh hmanrua nge awm?
• Swelling leh inflammation tihziaawmna turin eng damdawi nge i rawt?
• Engtin nge ka symptoms nena lo awm natna hi ka enkawl theih ang?

Genetic counselor emaw occupational therapist emaw hnenah pawh an refer thei bawk. I diagnosis hriatthiamna atan an pui thei che a, flare-ups tih tlem nan leh nun nuam tak i hman theih nan an pui thei che a ni.

Thuhmahruai: I hre reng ang u!

FOP hi dinhmun khirh tak leh harsa tak a ni. Mahse, hriat chian a pawimawh a, a natna lan chhuah dan hriat hmasak a pawimawh a, damdawi lam thurawn leh puihna dik tak zawn a pawimawh.

• FOP hi genetic disease hmuh tur awm lo tak a ni a, muscle leh connective tissue te chu ruh ah an chang thin.
• A pawimawh ber chu pian tirh laia ke ruh lian (big toe) awm dan dik lo hi a ni.
• Taksa chhiatna (hliam, natna) eng pawh hian ‘flare-ups’ a thlen thei. Chuvangin fimkhur a pawimawh hle a ni.
• Heng damlote tan hian biopsy test hi a tha lo hle.
• Damdawi awm lo mah se, natna lan chhuah dan control leh nunphung tihchangtlunna tur enkawlna a awm. Research kalpui mek a ni.
• Nangmah emaw, i hriat miin emaw heng symptoms te hi i neih chuan doctor thurawn la nghal rawh.

He thu hi in tan a tangkai ngei ka beisei. Nangmah chauh i ni lo tih hre reng ang che. Thu leh hla dik leh thlawpna dik tak nen he harsatna hi hmachhawn turin chakna i hmu ang che!

` FOP, Fibrodysplasia Ossificans Progressiva, Genetic Natna, Ruh, Taksa, Natna Rare, ACVR1