I mitmeng leh i kawr chak lohna tur pawh i ngaihtuah em? OPMD (Oculopharyngeal Muscular Dystrophy) chungchang hi han sawi ila

I mitmeng chu a rit deuh deuh a, hawn fel a harsa ang tih i hre ngai em? A nih loh leh ei harsa tlem i nei em, a nih loh leh i rilruah thil a inkhung ang maia inhriatna i nei em? Chûngte chu a châng chuan kum upat ruala lo awm thil pangngai a ni thei bawk. Mahse, a tlem berah chuan hengte hi Oculopharyngeal Muscular Dystrophy (OPMD) tih hming pu genetic condition symptoms a ni thei bawk. Ngaihtuah buai suh, vawiinah hian OPMD chu eng nge a nih, engtin nge a lo awm dan, a natna lan chhuah dan te, a enkawl dan tur a awm em tih te kan sawi dawn a ni.

OPMD (Oculopharyngeal Muscular Dystrophy) tih hi eng nge ni? A awlsam zawngin i hrethiam ang u.

A awlsam zawngin sawi ila, Oculopharyngeal Muscular Dystrophy (OPMD) hi thlahtute atanga natna hlauhawm tak a ni. Hemiah hian thil thleng chu kan taksa ruh thenkhatte chu zawi zawiin an chak lo a ni. Ngaihtuah teh, he natna thlentu genetic change hi kan pianpui thil ni mah se, a tam zawkah chuan a lan chhuah dan chu kum chanve vel, chu chu kum 40 emaw 50 emaw vel a ni a, he OPMD hi Muscular Dystrophy an tih, taksa ruh tichak lotu natna pawlah a tel a ni. Chûng natnate chu thlah khat a\anga thlah danga inkaichhawn, chu chu genes hmanga inkaichhawn a ni. OPMD hi "Oculopharyngeal" an ti a, a bik takin kan:

• Ocular - chu chu mit vel a thau awmte tihna a ni.
• Pharyngeal - Hei hian chaw ei tur leh thusawi kan ei theihna tura puitu rilru chhunga thau awmte a kawk a ni.

Heng symptoms te hi a lo lang zauh zauh a, chu chu a kal zel tihna a ni . Mahse thu lawmawm tak chu a tam zawkah chuan heng symptoms te hi a lo awm zawi zawi hle a ni. Chuvangin lungkham a ngai lo.

OPMD hi engtiang chiahin nge a awm? Tuin nge a neih theih ber?

Dik tak chuan khawvela mi engzat nge OPMD vei tih hi statistics dik tak a awm lo. Mahse, mithiamte chuan United States-ah ringawt pawh mi 3,000 atanga 30,000 inkar velin he natna hi an vei thei niin an chhut. Hei hian natna a tlem hle tihna a ni. OPMD hi tu chungah pawh lo awm thei mahse, mi pawl thenkhatah chuan a tam zawk. Entir nan:

• Israel rama Bukharan Juda mipui zingah (mi 700 zinga pakhat vel).
• Canada ram Quebec province-a French-Canadian mipui zingah (mi 1,000 zinga pakhat vel).

Sri Lanka ramah hian hetiang dinhmun hi data chiang tak awm lo mah se, a pawimawh ber chu hetiang symptoms i neih chuan doctor advice lak hi a ni.

OPMD natna lan chhuahna chu engte nge ni? Engtin nge a hriat chhuah?

Kan sawi tawh ang khan OPMD hian i mit leh i rilru a nghawng ber a ni. Chuvangin, i mitmeng leh i rilru ruh chak lohna hian heng ang symptoms hi a thlen thei a ni:

• Drooping eyelids ( Ptosis ) : Mitmeng hi a rit angin a lang a, a hawn tha thei lo. A châng chuan, mit hmuhna a tikhawlo thei bawk.
• ChawDifficulty swallowing ( Dysphagia ): Chaw ei emaw in tur emaw ei laia hnim hring emaw, ei harsa emaw tih hriatna. Hei hi OPMD-a hmuh chhuah symptom ber leh a buaithlak deuh chu a ni.
• Dysphonia : Aw inthlak danglam, ri bengchheng, emaw, chiang taka tawng harsat.
• Double vision (Diplopia) : Thil pakhat chu pahnih angin a lang thei.
• Facial muscle weakness : Facial emotion control tu muscle te hi a chak lo thei hle.
• Vision impairment leh eye movement limitation : Mit hawi a, chunglam hawi chu a harsa mai thei.
• Lei ruh chak lo emaw atrophy emaw : Hei hian lei hman dik loh leh ka chhunga ei tur sawn kual harsa tih ang chi thil a thlen thei.

Heng symptoms bakah hian OPMD vei te hian taksa lairil ( proximal muscles kan tih ang chi)-ah chak lohna an nei thei bawk. A bik takin:

• Hip area a ni
• A kekawrte
• A kekawr chunglam

Heng ruhte hi a chak loh chuan kal a harsa thei hle. Mi thenkhat chuan cane emaw walker emaw hman a ngai mai thei . OPMD vei mi 10 zinga 1 vel chuan wheelchair an mamawh mai thei .

Beisei aia hmaa symptoms lo lang ta se engtin nge ni ang?

A tlem hle a, mi thenkhat chuan OPMD natna khirh tak an nei thei. Hei hi kum 45 an tlin hmaa taksa chak lohna a lo nasat tan hun a ni a, chutiang hunah chuan miten kum 60 an tlin meuh chuan mahni chauha kal thei lo an awm fo thin a, chu bakah chuan:

• Lungngaihna
• Delusions (thil tak tak ni lo ang maia lang) .
• Cognitive tlahniam
• Nerve lama harsatna (Neuropathy) 1.1.

Hetiang dinhmun hi a tlem hle a, mahse hriat a tha a ni lawm ni?

Eng thilin nge OPMD hi a thlen?

OPMD hi genetic disorder a ni a . Chumi awmzia chu kan pian tirh atanga kan genes-a mutation awm vang a ni tihna a ni. OPMD thlentu genetic mutation hi PABPN1 gene ah a thleng thin . He PABPN1Kan nu, kan pa, a nih loh leh kan pahnih aṭangin genetic mutation hi kan rochun thei a ni. A tam zawkah chuan OPMD vei nu leh pa zinga pakhat chuan OPMD a nei a. Ngaihtuah teh, kan gene tam zawk hi pahnih pahnih in a lo awm a. Chuvangin, kan DNA-ah hian he PABPN1 gene copy pahnih kan nei bawk. OPMD siam tur chuan chu genetic mutation chu he PABPN1 gene copy pakhat chauh ah hian neih a tawk. Mahse, mi thenkhat chuan PABPN1 gene copy pahnih ah hian he genetic mutation hi an nei thei a ni. Chutiang miteah chuan OPMD symptoms hi a tlangpuiin a na deuh thei a, a hma deuhin a lang thei bawk.

Engtin nge OPMD i vei tih chiang taka i hriat theih ang? (Diagnosis) tih a ni.

OPMD symptoms i neih chuan i doctor chuan i symptoms a zirin a diagnose hmasa ang che. Tichuan, thisen test an nei ang a, an natna hmuhchhuah chu an finfiah ang. Hei hian PABPN1 gene-a mutation a zawng dawn a ni. Chu bakah, i doctor chuan a hnuaia test te hi a ti thei bawk ang:

• Electromyograms (EMG) : He test hian i taksa ruhte’n nerve signal an dawn dan a enfiah thin. Hei hian nerve conduction study leh needle electrode examination te a huam tlangpui .
• Muscle biopsies : Hei hian taksa peng (muscle tissue) sample tlemte lak a, test a ni. He muscle biopsy hian thisen test a chiang lo a nih chuan PABPN1 gene mutation hriatchhuahna kawngah a pui thei a ni.
• Swallowing tests : Chaw ei harsatna ( dysphagia ) i neih chuan heng test te hian i kawr chhunga ruh (muscles)-a harsatna awmte chu a chhan zawng chhuak thin.

OPMD enkawlna tur hi engte nge ni?

OPMD enkawlna hi i natna lan chhuah dan leh a nasat dan azirin a inang lo. Ngaihtuah buai suh, i natna lan chhuah dan control thei tur enkawlna engemaw zat a awm.

• Occupational or physical therapy : Therapist nena thawh dun hian chakna a siam thei a, nitin hna i thawk thei bawk. Muscle chak lohna avanga kea kal harsatna i neih chuan, i therapist chuan canes , leg braces, emaw walkers ang chi hmanrua hman a rawt thei ang.
• Speech therapy : Speech and language pathologist chuan OPMD avanga ei leh in leh thusawi lama harsatna awmte chu a pui thei che a ni. Chaw ei harsatna hi hmui te zawka ei te, i lu i vawn dan tihdanglam te, ei leh in tihdanglam te ang chi thil te hian a tiziaawm thei a ni.
• Botulinum toxin injection : Doctor chuan i kawr chunglam ruh pakhatah botulinum toxin a inject a .Injection i la thei bawk. Hei hian hun engemaw chen chu taksa ruh chu a ti hahdam a, i ei pawh a awlsam phah hle. Mahse heng result te hi vawng reng tur chuan thla engemaw zat danah he injection hi i lak a ngai dawn a ni.
• Blepharoptosis siamthat: I mitmeng tlak ( ptosis ) avanga i mit a tihbuai chuan doctor chuan plastic surgery neih a rawt thei ang. Blepharoptosis repair hi i mitmeng a chawi sang a, chutiang chuan i hmu tha zawk thei a ni.
• Cricopharyngeal myotomy : Hei hi surgery hmanga tih a ni. Surgeon chuan i rilruah hliam tenau a siam a, a bik takin cricopharyngeal muscle, esophagus chung lam deuhah a awm a ni . Hei hian i rilru chhunga thau te chu a ti hahdam a, ei tur chu awlsam zawkin i chaw kawng (esophagus) chhungah a kal thei a ni.
• Tube feeding (Enteral nutrition) : I ei harsatna ( dysphagia ) a nasat chuan feeding tube hi enkawlna tha tak a ni thei. Doctor chuan he tube hi i hnar emaw i pum emaw hmangin a thun a, i intestines emaw i pum chhungah direct in nutrients a thawn lut thin. Hei hian i mamawh ei tur i hmu thei a, i rilru chu a bypass vek thei a ni.

A pawimawh ber chu Doctor nen inbia a, i tana tha ber tur enkawl dan tur thlan hi a ni. Mi zawng zawng dinhmun a inang vek lo.

OPMD enkawlna thar clinical trial neih mek a awm em?

Ni e, OPMD natna clinical trial treatment i dawng thei mai thei. Hengte hi i doctor hnenah i zawt thei ang. Doctor-te pawhin OPMD symptoms tihziaawmna atan vaccine dang an hmang mek bawk. Mahse, zirchiangtute chuan heng enkawlnate hian hun rei tak chhunga nghawng a neih dan hi an la zirchiang mek a ni.

OPMD lo awm tur ven dan tur a awm em?

Vanduaithlak takin OPMD hi genetic condition a nih avangin a lo awm tur ven dan tur a awm lo. Mahse, i nu leh pa zînga pakhatin OPMD a neih chuan, genetic testing neih i ngaihtuah mai thei . He test hian OPMD thlentu genetic variation a enfiah thin. Genetic counselor chuan i test result a hrilhfiah ang che a, i fate hnena OPMD emaw, inherited condition dang emaw i pass theihna tur a zirtir bawk ang che.

OPMD vei tan chuan hmalam hun chu eng ang nge ni ang?

OPMD hian i nunphung a tichhe thei a ni. Mahse, a tlangpuiin i dam chhung a nghawng lo. Enkawlna hian symptoms control nan a pui thei a, complication awm theihna a ti tlem thei bawk. Chuvangin lungngai suh.

OPMD avanga harsatna awm thei te chu engte nge ni?

OPMD complication ber chu ei harsatna nen a inzawm a ni. I lei leh i ril ruh te chu a chak lo a, ei tur a ti harsa hle. Hei hian i risk a tipung a ni:

• Aspiration pneumonia (thil emaw tui emaw thawkna kawng chhunga lut avanga pneumonia ) .
• Choking a awm
• Ei leh in lama harsatna (malnutrition) a awm

Chuvangin, OPMD avanga ei harsatna ( dysphagia ) i neih chuan i doctor nen enkawl dan tur chungchang sawipui ngei ang che. Heng harsatna i neih theihna tur tihtlem nan i ei leh in dan pawh i thlak a ngai mai thei bawk.

Doctor hnenah eng zawhna nge ka zawh ang?

OPMD i vei a nih chuan, emaw, i nei mai thei nia i ngaih chuan, i doctor hnenah hetiang zawhna hi zawh a tha ang:

• OPMD natna lan chhuah hmasak berte chu engte nge ni?
• Engtin nge OPMD hi dik taka kan hriat theih ang?
• OPMD enkawlna tur hi engte nge ni?
• OPMD avanga harsatna awm thei te chu engte nge ni?
• Ka fate hian ka hnen atanga OPMD an dawn theihna chance engzat nge awm?

I dinhmun hriatthiamna tha zawk nei turin heng zawhnate hi zawt rawh.

OPMD hian thihna pawh a thlen thei em?

OPMD ngei pawh hian i dam chhung hi direct-in a nghawng lo. Mahse, enkawl loh chuan, rilru ruh chak lohna hian nunna atana hlauhawm tak tak, choking emaw aspiration pneumonia emaw a thlen theihna a tipung thei a ni. Chuvangin symptoms i neih chuan enkawl hmasak a pawimawh.

OPMD hian hahna a thlen thei em?

Ni e, OPMD hian hahna a thlen thei. Chauhna hi OPMD chhinchhiahna ber a ni lo va, mahse he natna vei zingah hian a awm fo thin. Zirna pakhatah chuan OPMD vei zinga a chanve vel chuan an nitin hnathawhna tibuaitu hahna an nei tih hmuhchhuah a ni.

Eng dinhmun dang nge OPMD nen hian symptom inang nei?

Damdawi lam harsatna thenkhat chu OPMD nen a inang thei a. Chuvangin diagnosis dik tak neih a pawimawh hle. Entirna thenkhat chu:

• Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) : Hei pawh hi thlahtu natna a ni bawk. A natna lan chhuah dan chu mitmeng a zim leh a tlahniam a ni.
• Chronic progressive external ophthalmoplegia (Kearns-Sayre syndrome) : Hei hi neuromuscular natna hmuh tur awm lo tak a ni a, mit leh thinlung a nghawng a ni.
• Myasthenia gravis : Hei hi autoimmune natna a ni a, taksa ruh chak lohna leh hahna thlentu a ni.
• Oculopharyngodistal myopathy : He natna hian OPMD chhinchhiahna tam tak a thlen thei a, chubakah thawk lama harsatna leh hriatna lama harsatna a thlen thei bawk.

Kan sawi tawh atanga hriat reng tur (Take-Home Message) .

Okay, chuti a nih chuan tunah chuan OPMD (Oculopharyngeal Muscular Dystrophy) hi genetic condition hmuh tur awm lo tak a ni a, mitmeng leh kawr ruhte a tichak lo tih i hre ta. Kum 40 i tlin hnuah symptoms hi a lang fo thin a, chuvangin, symptoms eng emaw i neih chuan, mitmeng tlahniam emaw, ei harsa emaw ang chi chu, doctor thurawn zawng la, tihkhawtlai lohvin zawt rawh I doctor chuan OPMD hriat theihna tur test tul tak tak a ti thei a, i natna lanchhuahna control-na tur enkawlna a pe thei bawk.

OPMD symptoms hi hun kal zelah a zual zel tih hre reng ang che. Tin, i dam chhung pawh a nghawng lo. Enkawlna dik tak i neih chuan nunphung tha tak i vawng reng thei a ni. Chuvang chuan chak taka awm reng a pawimawh.

oculopharyngeal muscular dystrophy, OPMD, ptosis, dysphagia, taksa chak lohna, genetic disorder, PABPN1 gene, ei harsa, mitmeng tlak