I fa taksa ruhte chu a nghet lo va, a kut hawn harsa a ti em? (Myotonia Congenita) chungchang hi i zir dawn teh ang!

A châng chuan i fa têin infiamna thil a man nghet tlat chuan a chhuah leh theih nân hun rei tak a ngai tih i hre ngai em? A nih loh leh inkhelh laiin an tlan kual laiin an khauh ang maiin a lang nghal em? Hetiang thil an hmuh hian nu leh pate hian hlauhna tlem an neih hi thil pangngai a ni. Vawiin hian heng symptoms te hi thlen thei, mahse a tam vak lo dinhmun kan sawi dawn a ni.

Myotonia Congenita chu eng nge ni?

A awlsam zawngin, Myotonia Congenita hi genetic condition a ni . Hetiang dinhmunah hian kan taksa ruhte hi an inzawm khawm hnuah pawh an relax nghal vat thei lo. I fa chuan a kutah toy ball chu nghet takin a keng tih han mitthla teh. A tlangpuiin thlah turin i tih chuan a thlah nghal mai ang. Mahse hetiang natna nei naupang hian vawi khatah a thlahthlam vek a harsat a ni. Kut chu rei lo te chhung chu a nghet lo thei.

Hetiang dinhmun hi naupan lai emaw tleirawl lai emaw atanga tan a ni tlangpui . Muscle stiffness bakah hian symptom dang pawh a awm thei a, chu chu muscle hypertrophy, muscle mass lo lang hi a ni.

Doctor-te chuan hei hi `non-dystrophic myotonia disorder` tiin an classified a, chu chu i fate taksa peng hrang hrangte insiam danah chhiatna lian tham a awm lo tihna a ni. An hrisel a ni. Mahse, taksa ruh inzawmkhawm (contraction) control tu electrical process-ah hian harsatna tlem a awm a. Myotonia nena lo awm natna dang, `dystrophic myotonias` an tih te pawh a awm bawk.

Kan fa taksaa danglamna kan hmuh hian lungkham leh hlauhna kan nei hi thil pangngai tak a ni. Mahse i hriat tur chu he natna, myotonia congenita tia koh hi a tlangpuiin hun kal zelah a na zual lo . Physics therapy leh enkawlna dang hmang hian heng symptoms te hi uluk taka enkawl theih a ni.

Myotonia Congenita chi hrang hrangte chu engte nge ni?

Hetiang dinhmun hi chi hnih a awm a, eng nge an nih i en ang u.

1. Becker natna

Hei hi myotonia congenita chi khat zingah chuan a tam ber a ni. Naupang kut leh ke ruh chak lohna a thlen thei a ni. Becker natna lan chhuah dan hi kum 4 leh 12 inkar vel a ni tlangpui a, mahse hei hi Becker muscular dystrophy nen a danglam a, chuvangin Becker muscular dystrophy nen hian inzawm tir suh.

2. Thomsen natna

Hei hi myotonia congenita chi khat, a tlem zawk leh a na zawk a ni. A natna lan chhuah dan hi a dam chhung thla hmasa berah a intan tlangpui a , kum 2-3 thleng a awm thei .

Myotonia Congenita hi engtiang chiahin nge a awm?

Hei hi a takah chuan thil awmdan tlemte chauh a ni.. He natna hian mi sang za zinga pakhat vel a vei a ni. Mahse, he dinhmun hi Scandinavia ram Finland, Norway leh Sweden-a mite zingah hmuh tur a tam zawk. Chu ramah chuan mi sang sawm zinga pakhat velin he natna hi an vei niin an sawi.

Myotonia Congenita natna lan chhuah dan chu engte nge ni?

Hetiang dinhmun ziarang ber chu taksa ruh pakhat chu a inzawm khawm hnuah a relax slow thin a ni . Hei hi myotonia kan tih chu a ni. He myotonia dinhmun hi chawlh hahdam hnua hna thawh tan emaw, boruak lum takah emaw a na zual thei.

I fain natna lan chhuahna dangte chu:

• Chaw pek harsatna, choking, nausea, leh reflux – a bik takin nausen laiin. Entirnan, naupang thenkhat chuan bawnghnute tlem an in hnuah pawh an kawchhungah ei tur tam lutuk ang maiin an inhria mai thei.
• Tlu fo leh balance loh (clumsiness) – Hei hi i kal tan a, i lo thiam tawh hnuah pawh a lang thei.
• Double vision emaw mit lazy emaw.
• Muscle te chu a lian (hypertrophy) , chu chuan athlete angin a lantir thei che a ni.
• Muscle a ti na hle.
• Muscle stiffness , a bik takin naupang keah. Mahse, he stiffness hi a chetna leh taksa a lum chuan a tlahniam thei a ni. Hei hi ‘warm-up phenomenon’ an ti a ni.
• Weakness , a bik takin i fain Becker natna a neih chuan.
• Scoliosis hi ruhro (spine) a curvature dik lo (abnormal curvature) a ni.

Naupang hmeichhia aiin mipa naupang an tuar nasa zawk thei. Naupai leh thlasik lai pawhin a natna lan chhuah dan chu rei lo te chhungin a na zual thei bawk.

Thomsen natna lan chhuah dan hi a hmain a intan tlangpui a, naupang hmai leh kut a nghawng hmasa ber thin . Becker natna lan chhuah dan hi a hnuah a intan fo thin a , ke a nghawng hmasa thin .

Eng thilin nge Myotonia Congenita hi a thlen?

Myotonia Congenita hi gene CLCN1 a mutation vang a ni a . He gene hian kan taksa ruh chhunga chloride channel awmte a nghawng a ni. Hei vang hian taksa ruhte hian an inzawm khawm hnuah pawh chawlh hahdam an harsat phah thin.

Becker natna (BD) hi autosomal recessive pattern atanga rochun a ni . Chumi awmzia chu naupang nu leh pa dik tak pahnih hian gene mutation hi an keng tel tur a ni a, an pahnih hian naupang hnenah an pe chhuak tur a ni. Mahse, chu nu leh pate chuan symptom an nei lo. Gene kengtu mai an ni.

Thomsen natna (TD) hi eng nge ni?Autosomal dominant dinhmun a ni. Chutiang a nih chuan nu leh pa dik tak pakhat chauhvin gene variation nei mah se, naupang chuan a rochun thei a ni.

Engtin nge Myotonia Congenita hi hmuhchhuah a nih?

Doctor-te chuan naupan laiin he natna hi an hmuchhuak tlangpui. I doctor chuan i fa natna lan chhuah dan leh i chhungte damdawi lam chanchin a zawt ang. Tichuan test engemaw zat an ti ang a, gums-ah harsatna a awm leh awm loh an enfiah ang. Chûng zîngah chuan:

• Naupang chu rang taka mit meng leh khar turin hrilh .
• Naupangin thil pakhat chu an kutah a chelh a, rang taka a thlah theih leh theih loh en, a nih loh leh rang taka an kut chu hrual chungin an hawn theih leh theih loh en .
• Naute sa chu hammer te tak te (percussor) hmangin zawi zawiin tap la, a khauh em tih en rawh.

I doctor chuan i natna hriat chian nân emaw, chutiang chiah chhinchhiahna thlentu natna dangte chu paih chhuah nân emaw test dang engemaw zât neih a rawt thei bawk. Heng test hrang hrangte hi:

• Creatine Kinase (CK) thisen test: Myotonia congenita-ah hian CK level a sang thei.
• Electromyography (EMG): He test hian taksa ruh atanga electrical impulse a teh thin. Hei hian muscle-related leh nerve-related disorders te chu a thliar hrang thei a ni. Mahse, EMG result atanga thlir chuan myotonia congenita chi hnih hi a danglamna hriat a harsa hle.
• Genetic testing: Hei hian myotonia congenita thlentu genetic changes a zawng thin.
• Muscle biopsy: Myotonia congenita-a biopsy tih chu a pangngai angin a lang tlangpui a, mahse a chang chuan thil danglam te te hmuh tur a awm bawk.

Myotonia Congenita hi eng enkawlna nge ni?

Hetiang dinhmun hi damdawi a awm lo . I fa hian enkawlna bik a mamawh lo mai thei. Rest leh light exercise hian taksa ruh (muscle stiffness) a tihziaawm thei a ni. I doctor chuan taksa ruh hnathawhna atana pui turin physical therapy a rawt thei bawk.

A châng chuan i fain damdawi ei a hlawkpui thei a ni. I doctor chuan mexiletine emaw ranolazine emaw ang chi damdawi a pe thei a, chu chu seizure awm tam leh nasat loh nan a ni. Damdawi dang lamotrigine leh carbamazepine te pawhin a pui thei a, mahse a chang chuan side effect duhawm lo tak tak a thlen thei bawk.

Myotonia congenita symptoms enkawl dan tur leh triggers laka invenna atana nang leh i fa leh i chhungte tih theih dang thenkhat chu hetiang hi a ni:

• Environment lum atanga hla taka awm.
• Taksa tihchakna mumal tak neih– Naupang tisa a lum deuh chuan symptoms a bo thei (hei hi ‘warm-up phenomenon’ an ti).
• Stress enkawl dan.
• A tul chuan ei leh in thlak tur ; hei hian naupang chu ei tur awlsam tak tak pek a, chu chuan a rilru a tihnat theihna tur a tihziaawm tihna a ni. Entirnan, chaw khauh ei harsa an tih chuan an chil chhe thei a, an ti nem thei bawk.

Myotonia Congenita hi ven theih a ni em?

Myotonia Congenita hi genetic mutation avanga lo awm a nih avangin a venna tur engmah i tih theih loh . I chhungkuaa mi tu emaw chuan he natna hi a nei a nih chuan, emaw, nangmah ngei pawhin i vei a, fa neih i tum a nih chuan, genetic counselor hmuh a tha Chumi hnuah chuan i fate hnena he natna hi a thlen theih dan tur a zirtir thei ang che.

Myotonia Congenita vei mi pakhat hmalam hun chu eng nge ni? (Prognosis) tih a ni.

Myotonia Congenita hi a tlangpuiin hun kal zelah a na zual lo . I fate natna lan chhuah dan chu a dam chhung zawngin a tam zawk chu a inang reng ang. Physical therapy leh natna lan chhuahna tizual thei thilte pumpelh hian i fa chu a thawkrim reng thei a, thil tih pangngai a chhunzawm thei bawk. Myotonia congenita vei te hian infiamnaah an tel thei a, nun pangngai an hmang thei bawk. Becker natnaah chuan naupangin a upat deuh deuh chuan chak lohna engemaw zat a nei thei a.

Myotonia Congenita vei dam rei zawng chu engzat nge ni ang?

Myotonia Congenita vei te hian dam rei zawng an nei tlangpui . He natna hian taksa system dang a nghawng lo.

Engtikah nge ka fa hian doctor a hmuh ang?

Myotonia Congenita hi hun rei tak chhunga natna a ni . A tlangpuiin a na zual lo va, a danglam lo nain, i fain damdawi a ei a nih chuan a doctor a hmuh fo a ngai dawn a ni. I fa a lo puitlin chuan physical therapy mamawh a danglam thei.

Pawimawh tak chu, myotonia congenita hian i fain anesthesia a dawn dan a nghawng thei a ni . Chuvangin, i fa chu zai tura ruahman a nih chuan i doctor hnenah i hrilh tur a ni. Tin, operation neih chhunga i fa enkawltu tur anesthesiologist hnenah pawh i hriattir tur a ni.

"I fa taksa ruhte a thawh that loh chuan mangang lutuk hi thil pangngai tak a ni. Hei hian engtiang chiahin nge a na zual ang tih i ngaihtuah mai thei a, i fate nun leh i chhungte nun a nghawng dan tur pawh i ngaihtuah mai thei. Mahse chanchin lawmawm tak chu myotonia congenita hi physical therapy hmangin i enkawl tha thei a, in lamah leh i nitin nunah inthlak danglamna tenau te i siam thei bawk. I doctor chu i ngaihtuahna leh i nitin nunah i tihdanglam theih nan a awm reng tih hi a ni zawhna i neih apiang chhang rawh."

He thawnthu atanga kan hriat reng tur pawimawh tak tak (Take-Home Message) .

Okay, chuvangin kan sawi tawh myotonia congenita chungchanga hriat reng tur awlsam tak tak thenkhat han thlir ila:

• Hei hi genetic condition hmuh tur awm lo tak a ni . A zia ber chu vawi khat chu taksa ruh (muscles) te hi an inzawm khawm chuan an hahdam thuai a harsat thin.
• Becker natna hi chi hnih a awm a , chungte chu Becker natna leh Thomsen natna te an ni.
• Hei hi hun kal zelah a na zual lo tlangpui .
• Damdawi chiang tak awm lo mah se, taksa lam enkawlna, damdawi ṭhenkhat, leh nunphung tihdanglamna hmangin a lan chhuah dân chu a thunun ṭha thei a ni .
• Naupang chu nun pangngai a hmang thei a , infiamna a khel thei bawk .
• I fain operation a mamawh chuan, anesthesia chungchangah i fimkhur hle a ngai a ni .
• Hemi chungchang hi zawh hlau suh. I doctor nen inbia la , i mamawh thurawn leh puihna dawng rawh . Nangmah chauh i ni lo tih hre reng ang che.

` Myotonia Congenita, Myotonia Congenita, Genetic Diseases, Muscle Stiffness, Naupang natna, Becker natna, Thomson natna