I naute hian limp a vei em? Arthrogryposis Multiplex Congenita chungchang hi i zir dawn nia.

Nausen piang thar kan en hian kan hlimna hi sawina tur thumal a awm lo, a dik em? Mahse a chang chuan kan naute hian hriselna lama harsatna tenau te an nei thei a. Vawiin hian kan sawi dawn a, hriat tur awm lo, mahse fimkhur a pawimawh em em dinhmun kan sawi dawn a ni. Chu chu arthrogryposis an tih natna a ni.

Arthrogryposis tih hi eng nge ni?

A awlsam zawngin, Arthrogryposis Multiplex Congenita (AMC) hi naute piang a , ruh pakhat aia tam, a ben thei lo emaw, a dinglam thei lo emaw a ni ‘Artho’ tih awmzia chu ruh (joint) tihna a ni a, ‘gryposis’ tih hian bending emaw crookedness emaw tihna a ni. Hei hi natna pakhat chauh ni lovin, natna 300 chuang awmna pawl a ni . Entirnan, taksa ruh natna Muscular Dystrophy leh Trisomy 18 - Edwards Syndrome ang chi genetic condition te nen hmuh theih a ni.

Tunah chuan ‘joint stiffness’ kan tih hian doctor-te chuan hei hi `(contracture)` an ti a. Chu chu naute ruh, vun, leh ruh `(tendon)` te chu a nghet reng a , chuvangin ruhte chu a tawi a, an ben tha thei lo va, an inzawm tha thei lo bawk. Ngaihtuah teh, joint hi kan kutphah, kan hip, kan khup leh kan kawr ang chi hmun a ni. Heng ruhkawrte hi kan chetna tura min puitu a ni. Chuvangin, naute arthrogryposis veiah chuan heng ruhkawrte hi an che tha thei lo. An nghet vek thei a, a nih loh leh an hrual thei a, a nih loh leh an dinglam a, hmun khatah an innghat thei bawk .

Hetiang dinhmunah hian naute hian eng symptom bik nge a lantir?

Naute arthrogryposis vei te hian an pian tirh hian mizia danglam bik engemaw zat an nei a. Amaherawhchu, chûng mizia chu nausen pakhatah a inang lo thei a, chhûngkaw khat chhûngah pawh a inang lo thei a ni. A ziarang langsar zualte chu:

• A kekawrte chu a hniam a, taksa chu chhung lam hawiin a inher a.
• Elbow extended (bend harsa) nei chu.
• A kutphah leh kut zungtang chu chhung lam hawiin a innghat a.
• Hip ruh te chu a dislocated tawh mai thei.
• Khup phar chhuak chu.
• Ke chu hnuai lam leh chhung lam (`(Clubfoot)` ang chi) a ni.
• Spine chu a sir khatah a ben thei (curvature of the spine).

Heng symptoms te hi mi zawng zawng tan a inang vek lo. Mi thenkhat chuan heng zinga pakhat emaw pahnih emaw an nei thei a, thenkhat erawh chuan tam tak an nei thei thung. Tin, ruh lian tak tak bakah ruh te te pawh a nghawng thei bawk . Hei hian kut zungtang atanga kekawr bul thlengin a nghawng thei tihna a ni.

Arthrogryposis chi hrang hrang lian ber ber a awm em?

Ni e, chi hnih kan sawi ber a ni:

• (Amyoplasia) : Hemi ah hian ke ruh ruh (joint) te hi a nghawng ber a ni .
• (Distal Arthrogryposis) : Hetiang chi ah hian kut leh ke (distal joints) ah a nghet lo a , ruh lian tak tak, ke leh ke ruh te hi a nghawng nasa lo hle.

Hetiang dinhmun hi engtiang chiahin nge a awm?

Arthrogryposis hi a takah chuan natna tlanglawn tak a ni lo . AtlangpuiinHetiang dinhmun hi nau piang nung 3,000 zinga pakhat vel ah a awm theihna chance a nei a ni.

Hei hi genetic thil a ni em? Chhuan hrang hrang atanga lo chhuak thil a ni em?

Arthrogryposis hi pianpui natna a ni a . Hei hian a awmzia chu nau piang hmain symptoms a intan tihna a ni . Thil tam takah chuan a chhan dik tak hriat a ni lo . Mahse, genetic disorder avanga lo awm a ni thei . Mithiamte chuan arthrogryposis nena inzawm , mutated gene 400 chuang an hmuchhuak tawh a ni . Genetic disorder 35 chuang nena inzawmna an hmu bawk .

Arthrogryposis leh isolated congenital contracture te hi eng nge an danglamna?

Zawhna tha tak a ni. `(Isolated Congenital Contracture)` tih awmzia chu taksa peng pakhat chauh ah hian ruh (joint stiffness) a awm tihna a ni . Entîr nân, naute ṭhenkhat chu ke pakhat chauh chhûng lam hawia ben chungin an piang i hmu ngai em? Chu chu `(Clubfoot)` an ti a. Chu chu `(isolated congenital contracture)` a ni. Mahse arthrogryposis-ah chuan taksa hmun hnih emaw a aia tam emaw-ah ruh (joint stiffness) a awm thei .

Eng thilin nge arthrogryposis (AMC) hi a thlen?

A tam zawkah chuan arthrogryposis awm chhan dik tak hi a chiang lo . Mahse, he natna thlentu nia ngaih thil inang lo engemaw zat a awm a:

• Nausen (nausen) chu nausen pum chhunga a lo seilian angin a che thei lo . Hei hi amniotic fluid neih tlem vang te, nausen dang (twins ang chi) neih vang te, uterus pianzia dik lo vang te pawh a ni thei. Nausen chuan a ruhte chu a kal ṭha thei lo a nih chuan, chu ruhte vêlah chuan tissue dang a lo awm a, chu chuan a pinch .
• Nu naupai hian damdawi lam dinhmun thenkhat a neih . Entirnan, `(Multiple Sclerosis)` ang natna. I chhungkuaa mi tu emaw chuan `(Multiple Sclerosis)` a vei a nih chuan i hlauhawmna a sang zawk thei bawk.
• Genetic natna te . Entirnan, ``Muscular Dystrophy'' ang chi dinhmun.
• Central Nervous System natna te . Hei hian thluak leh ruhro (spinal cord) a huam a ni. Entirnan natna hrik `(Moebius Syndrome)` leh `(Spina Bifida - Meningomyelocele)` te hi a ni.
• Neuromuscular System natna te . Entirnan, Myasthenia Gravis tih hi a ni.
• Connective Tissue natna te . Entirnan `(Dysplasia)` leh `(Metatropic Dwarfism)` te hi a ni.

Thil engemaw takah chuan, genetic leh environmental factor pahnih inzawmkhawm hian arthrogryposis thlentuah hian chanvo a nei thei niin an ngai.

Arthrogryposis natna lan chhuah dan dik tak chu engte nge ni?

Arthrogryposis symptoms hi mi hrang hrangah a inang lo thei hle . Chhungkaw khat chhungah pawh mi pakhat natna lan chhuah dan chu mi dang aiin a danglam emaw, a na zawk emaw a ni thei.

Khawvel pum huapa a lan chhuah dan chu:

• Joint te leh lian te sawn theihna tlem.
• Joint te leh lian te hi a che thei lo tak tak pawh a ni mai thei.
• Muscle thanna tlahniam (hypoplastic muscles).
• A ke leh ke chu a nem a, tube ang mai a ni.
• Skin-like membrane (soft tissue webbing) a lo awm a, chu chuan joint movement a tikhawlo a ni.

Mi tam takin an hriat chhuah feature dangte :

• Kut leh ke ruh sei tak takte hi a pangngai lo takin a hring a, awlsam takin a chhe thei bawk.
• Cryptorchidism chu mipa naupang testicles (testes) te scrotum chhunga a chhuk loh vang a ni.

Mi tlemte chauhin an hmuh theih features :

• Hips, elbows emaw khup emaw a dislocated.
• Central nervous system (i thluak leh i ruhro) structure-a harsatna awm.
• Central nervous system (chu chu a hnathawh dan) hnathawh danah harsatna a awm.

Amyoplasia vei te hian internal organs leh cognitive function ah harsatna an nei lo tlangpui . Mahse, 10% vel chuan pum chhungah harsatna an tawk thei. Entirnan:

• Gastroschisis: Hei hian pum chhunga khur a awm tihna a ni.
• `(Intestinal Atresia)`: Hei hian intestine a block tihna a ni.

Ke ruh ruh (joint) te hi a nghawng nasa ber a ni. Kut ruh (joint) te chu a dawttu a ni. Chu bakah, heng ruhkawrte hi a nghawng fo thei bawk:

• A kekawrte
• Khup a ni
• Kiu
• Ke rek
• Kut zungtang
• Banrek
• Kezungtang
• Mawngbawr
• Jaw joint a ni

Arthrogryposis (AMC) hi eng chen nge a awm?

Arthrogryposis hi tihdam kim theih loh natna a ni . Mahse, i nunphung tichangtlung thei enkawlna a awm . A bik takin physical therapy hian nitin hna hrang hrang, incheina leh tui in teah a pui thei che a ni.

Engtin nge arthrogryposis (AMC) i vei tih i hriat theih ang?

A châng chuan, naute pian hmain he natna hi hriat theih a ni . Naupai laiin ultrasound scan pangngaiah naute ke ruhah thil danglam a awm a nih chuan arthrogryposis a ni thei tih rinhlelh theih a ni. Doctor te chuan heng ruh natna te hi naupai kum thum chhungin an hmu tlangpui thin . Chutih hunah chuan doctor chuan genetic counseling atan a refer thei che a ni .

I genetic counselor chuan i naute nghawng thei tur genetic condition chungchang information a pe ang che. I chhungkaw hriselna chanchin an zawt ang a, genetic test tul apiang an rawt ang. Entir nan:

• `(Chorionic Villus sample lak - CVS)` tih a ni
• `(Amniocentesis)` tih a ni

Naute a pian hnuah pawh doctor-te chuan a natna lan chhuah dan enfiahin leh test hrang hrang hmangin he natna hi an hre thei a ni . Heng test hrang hrangte hi:

• Nerve Conduction Studies: Nerve kal tlanga electrical impulse kal chak dan tehna a ni.
• Electromyography (EMG): Taksa leh taksa peng hrang hrangte electrical activity record a ni.
• `(Muscle Biopsy)`: Muscle te tak te chu lak a, enfiah a ni.
• Genome Sequencing: Genes inthlak danglam tawhte hriatchhuahna.
• Thisen test: Gene leh chromosome-a thil dik lo awm leh awm loh zawng rawh.
• `(Comparative Genomic Hybridization (CGH) array)`: Chromosome inthlak danglamna a hmuchhuak.
• Microarray: Vawi khatah gene sang tam tak a zirchiang thin.
• Exome study: Genes inthlak danglamna hrang hrang hriatchhuah.

A châng chuan doctor-te pawhin ultrasound leh EMG ang chi imaging test -ah an innghat bawk.

I doctor chuan i arthrogryposis chhan bulpui awm thei chu a hriat chian hnuah chuan enkawlna tur ruahmanna an siam ang . Chu ruahmanna siamnaah chuan i pui thei ang.

Engtin nge arthrogryposis (AMC) hi enkawl a nih?

Arthrogryposis damdawi chiang tak awm lo mah se, enkawlna chuan naupang nunphung nasa takin a tichangtlung thei a ni .

Hei hi naupangin nun tha a neih theih lohna tur dinhmun a ni lo tih hre reng ang che. Inenkawlna mumal tak a awm chuan thil tam tak hlawhtling taka tih theih a ni.

Arthrogryposis awm chhan hi mi zawng zawng tan a inang lo vek avangin, mi hrang hrangah enkawl dan a inang lo .

Arthrogryposis enkawlna atana hman tlanglawn berte chu:

• Casts hi joint khauh tak tak te tihchak nan an hmang thin . Chungte chu zawi zawiin an thlak danglam a, chu chuan joint chu a flexible zawk a ni.
• Physical therapy : Hei hian ruh (joint mobility) a tichak a, taksa ruh (muscle atrophy) a veng bawk.
• Joint Manipulation : Hei hian specialist pakhatin ruhte chu zawi zawiin a sawn tir thin.
• Stretching Exercises : Hengte hian ruh (joint) te flexibility leh range of motion a tipung a.
• Inzai . Surgery hi ke ruh, ke ruh, khup, kutphah, elbow ang chi ruhte chetna range tihpun nan tih theih a ni. Hetah hian thil tum ber chu naupang hnathawh tihchangtlun hi a ni . Hei hian ruhte chu incheina tikhawlo thei tissue atanga chhuah zalen a, taksa ruhte chu a inzawm khawm a, a che thei a ni. Mahse, operation hi a tlem berah tih a ni .

Mithiamte chuan multidisciplinary approach hman an rawt a ni . Chumi awmzia chu i fa hian enkawlna vawi khat aia tam a mamawh thei tihna a ni. Doctor leh therapist team-in an thawhhonaah result tha ber a awm thin.

Specialist ka hmuh a ngai em?

Ni e, a dik tak zet. I fa arthrogryposis vei tanpui theitu specialist engemawzat an awm . Entir nan:

• Naupang enkawltu doctor
• Orthopedist (ruh leh ruhkawr lam thiam) .
• Doctor pakhat, thluak lam natna lama tui tak (Neurologist) .
• Damdawi lam Geneticist
• Rehabilitation Damdawi lam thiam
• Taksa lam enkawltu (physical Therapist) a ni

Heng mi zawng zawng hian i fa enkawlna tur ruahmanna tha ber siam turin an thawk ho a ni.

In lama tih theih tur enkawlna a awm em?

Arthrogryposis vei tam tak chuan an tleirawl chhung zawngin physical therapy an mamawh dawn a ni . Physical therapist te chuan in lama i tih theih tur exercise an zirtir ang che . Hengte hi dik taka tih a pawimawh hle.

Arthrogryposis (AMC) hi ven theih a ni em?

Hei hi i thunun theih loh tak zet a ni . I fain arthrogryposis a vei theihna tur tihziaawmna tur engmah i tih theih loh. Chuvangin khawngaihin nangmah hi in dem suh .

Arthrogryposis (AMC) vei te hmalam hun eng nge ni?

AMC vei te tan hun rei tak chhunga hmalam hun tur chu thil engemaw takah a innghat a ni:

• Arthrogryposis natna nasat dan .
• Arthrogryposis awm chhan bulpui ber .
• I emaw i fa emaw taksain enkawlna a dawn dan .

Mahse thu lawmawm tak chu arthrogryposis vei tam zawk hi independent adult angin an khawsa a ni . Enkawlna hian an kal theihna a tichangtlung thei a, chu chuan nun pangngaiin an hmang thei a, arthrogryposis nei lote ang bawkin.

Hun kal zelah arthrogryposis hi a na zual em?

Arthrogryposis hi natna hmasawn zel a ni lo . Chumi awmzia chu hun kal zelah ruh (joint stiffness) hi a na zual lo tihna a ni. Mahse, a chhan bulpui (underlying condition) chu a châng chuan a na hle thei a ni . Chuvangin, doctor ten i fain arthrogryposis a vei tih an finfiah hnuah a chhan awm thei te hriat chian a tha.

Arthrogryposis chungchangah hian doctor hnenah eng zawhna nge ka zawh tur?

I doctor hnena zawhna zawh hian arthrogryposis hi i hrethiam zawk thei a ni. I naute natna hmuhchhuah chungchangah hian doctor hnenah heng zawhnate hi zawh hi ngaihtuah rawh:

• Ka fa hian eng ang arthrogryposis nge a neih?
• Ka naute hian eng chen nge cast a bun a ngaih ang?
• Ka fa tan hian eng enkawlna tha ber nge ni ang?
• Ka fa hian eng specialist nge a hmuh ang?
• Engtikah nge physical therapy hi kan tan ang?
• Ka fain a ei tur damdawi a awm em?
• Engtin nge ka fa chu ka ṭanpui theih ang?

Arthrogryposis vei te hi an pian tirh atanga ruh nghet emaw, che thei lo emaw nei an ni. Nitin hna, kea kal emaw, no vawn emaw-ah harsatna an nei thei a ni. Mi tam tak chuan an nunphung tihchangtlun nan physical therapy leh a chang chuan surgery an mamawh thin.

Nu leh pa hriat duh hnuhnung ber chu an nausen piang thar emaw, piang thar emaw chungah thil dik lo a awm tih hi a ni. Khawngaihin nangmah hi in dem suh . Thil danglam tak i tih theih tur a awm lo. He dinhmun harsa tak hmachhawn tura tanpuina i mamawh chuan i doctor nen counseling leh support group chungchang sawipui rawh. Nangmah chauh i ni lo . Chhungkaw dang pawhin hetiang dinhmun hi an tawk mek bawk.

A tawp berah chuan hei hi hre reng ang che (Take-Home Message) .

Arthrogryposis hi naute piang a, a ruh pakhat emaw a aia tam emaw a vawt a, a che tha thei lo a ni. A hlauhawm hlein a lang thei a, mahse , enkawlna dik leh hmangaihna nena enkawl a nih chuan heng naupangte hian nun ṭha tak an nei thei tih hre reng ang che .

A chhan chiang tak chu hmuh chhuah ni lo mah se, naupai laiin genetics leh dinhmun ṭhenkhat chuan chanvo a nei thei a ni . A hmaa hriatchhuah a pawimawh hle a, physical therapy, a tul chuan casting, leh surgery tih loh ang chi enkawlna tan a pawimawh hle.

Hei hi ven theih thil a ni lo tih hre reng ang che, chuvangin nu leh pate angin beidawng suh . I medical team nen thawk ho la, i fate mamawh chu pe rawh. Nangmah chauh i ni lo, tanpui thei tur mi tam tak an awm.

Dawhtheihna, hmangaihna, leh damdawi lam thurawn dik tak nen , arthrogryposis vei naupang pawhin hmalam hun duhawm tak a nei thei a ni.

` Arthrogryposis, ruh nghet lo, pianpui dinhmun, naupang hriselna, thlah natna, taksa enkawlna, ruh tam tak khauh lo