I taksa ruhte pawh a chak lo chho zel em? Hei hi myotonic dystrophy a ni thei!

A hmaa i taksa peng chak tak takte chu zawi zawiin a hring emaw, a chak lo emaw ang maiin i inhriat ngai em? A nih loh leh, thil i vawn nghet tlat hian i kut hawn harsa i ti ṭhin em? Hengte hi a chang chuan kan ngaihven vak loh thilte a ni a, mahse Myotonic Dystrophy tih hming pu natna chhinchhiahna a ni thei bawk. Hemi chungchang hi vawiin hian chipchiar tak leh awlsam takin i sawi dawn nia.

Myotonic Dystrophy hi eng nge ni?

A awlsam zawngin sawi ila, Myotonic Dystrophy (DM) hi genetic condition buaithlak tak a ni. Hemi kawngah hian a pawimawh ber chu kan taksa ruh (muscles) te hi zawi zawiin an lo atrophy a, an chak lo chho zel a ni. He natna vei te taksa ruh hi an hman hnuah a reh nghal lo thei a, mahse a inzawm reng thei a ni. Hei hi myotonia kan ti a ni . Kawngkhar khar nghet taka vawn a, hawn tum chuan hun rei tak a daih ang mai a ni.

Myotonic dystrophy (DM) symptoms hi a zau thei hle. Kan taksa chhunga system engemaw zat a nghawng thei a ni. Entir nan:

• Kan ruh (skeletal muscles) (muscles kan control tumna) leh cardiac muscles te.
• Mit.
• Lung leh thisen kalna (circulatory system) a ni.
• Endocrine system (hormone kalphung) a ni.
• Central nervous system (thluak leh ruhro).

Myotonic dystrophy chi hrang hrang a awm em?

Ni e, DM hi chi hnih a awm a, chungte chu:

1. Myotonic dystrophy type 1 (DM1): Hei hi Steinert natna an ti bawk. DM1 hian subtype pali a nei leh a:

• Classic type a ni
• Mild type a ni
• Congenital type (pian tirh atanga awm) 1.1.
• Naupan lai chi

2. Myotonic dystrophy type 2 (DM2): Hei hi proximal myotonic myopathy an ti bawk.

A chi hnih symptoms hi a chang chuan a inang thei bawk. Mahse, DM2 hi DM1 aiin a na deuh tlangpui a, chu chu a natna lan chhuah dan chu a na lo tihna a ni.

Muscular Dystrophy leh Myotonic Dystrophy hi eng nge an danglamna?

Hei hi mi tam tak tibuaitu a ni. Muscular dystrophy hi inherited (genetic) natna chi khat a ni. He pawlah hian natna chi hrang hrang 30 chuang a awm a. An vai hian taksa ruh chak lohna a thlen vek a ni. Chungte chu myopathy category-ah an tel a, chu chu kan ruhro natna a ni. Hun a kal zel a, taksa ruhte chu a lo tlem a, a chak lo zual zel bawk. Hei hian kea kal leh nitin hna thawh a ti harsa hle. A châng chuan thinlung leh lungte pawh a nghawng thei bawk.

Myotonic Dystrophy natna a niNatna chi khat a ni a, a hmaa kan sawi tawh ang khan muscular dystrophy group-ah a tel ve a ni. A specialty chu puitling atanga intan muscular dystrophies zingah hian he myotonic dystrophy condition hi a tam ber a ni. (Amaherawhchu, DM chi thenkhat chu nausen emaw, naupan lai emaw pawhin a intan thei bawk).

Tute nge myotonic dystrophy nei thei? Kum inthlauhna a awm em?

DM chi hrang hrang hi kum hrang hrangah a intan thei. Engtin nge:

• Classic myotonic dystrophy type 1 (Classic DM1): Hei hi kum 20s, 30s, 40s atang hian a intan tlangpui.
• Mild myotonic dystrophy type 1 (Mild DM1): Hei hian kum 20 leh 70 inkar mi a nghawng thei a, mahse kum 40 hnuah a tam ber.
• Congenital myotonic dystrophy type 1 (Congenital DM1): "Congenital" tih thumal hian a sawi angin, hei hi nausen natna chi khat a ni. Hei hian pian tirh atangin a awm tihna a ni.
• Childhood myotonic dystrophy type 1 (Childhood DM1): Hei hi kum 10 vel atanga tan a ni tlangpui.
• Myotonic dystrophy type 2 (DM2): Hei hi puitlingah pawh a intan thin. Kum 48 vel atanga natna lanchhuahna hi a intan tlangpui.

He natna hi engtiang chiahin nge a hluar?

Myotonic dystrophy (DM) hian khawvel pumah mi 8,000 zinga 1 tal a vei a ni. Mahse, he zat hi hmun hrang hrang leh hnam hrang hrangah a inang lo thei. European hnam chhuak zingah DM hi muscular dystrophy chi khat a ni ber.

Population tam zawkah chuan DM type 1 (DM1) hi DM type 2 (DM2) aiin a tam zawk.

Myotonic Dystrophy natna lan chhuah dan chu engte nge ni?

Hengte hi DM natna lan chhuah dan berte an ni. Hun kal zelah an na zual zauh zauh a, chu chu an na zual tihna a ni:

• Muscle atrophy: Taksa tihchhiatna.
• Muscle chak lohna: Muscle chakna tlahniam.
• Myotonia: Hemi chungchang hi kan sawi tawh a. Muscle pakhat chu consciously relax theih lohna. Entirnan, DM vei mi pakhatin kawngkhar khar a man veleh chuan thlah a harsa deuh mai thei.

Amaherawhchu DM hian taksa peng hrang hrang a nghawng avangin symptom dang chi hrang hrang a awm thei a ni. Heng symptoms nasat dan leh an lo awm dan hi DM chi hrang hrang a zirin a inang lo.

Classic Myotonic Dystrophy Type 1 natna lan chhuah dan

Hetiang chi symptoms hi puitling atang hian a intan thin. Myotonia hi a symptom hmuh hmasak ber a ni. Hei hi chawlh hnuah a langsar zawk a, taksa ruh hnathawh hnuah pawh a tlahniam deuh thei bawk.

A lan chhuah dan dangte chu:

• Distal muscle chak lohna: 1.1.Chumi awmzia chu taksa lairil atanga hla zawk (e.g., kut leh ke ruh) te chu an chak lo tihna a ni. Hei hian kut hmanga hna nalh tak tak (e.g., buttoning, writing) tih a ti harsa hle. Foot drop an tih (ke hnuai lam chu leiah a hrual ang maiin) avang pawhin kea kal a harsat phah bawk.
• Facial muscles atrophy hian hmai chu a hring hring, a zung (myopathic face) a nei ta a ni .
• Heart conduction a dik lo.

Congenital Myotonic Dystrophy Type 1 natna lan chhuah dan

Hetiang chi hi pian tirh lamah a awm avangin naute hian a pum chhunga a la awm laiin natna lan chhuahna engemaw zat a lantir thei a:

• Nausen pum chhunga nausen che vel a tlahniam.
• Polyhydramnios hi naupai laiin nausen vel a amniotic fluid tam lutuk a ni.
• Clubfoot ( ke chu chhunglam hawiin).
• Ventriculomegaly (thluak ventricles lian tham) (cerebrospinal fluid a awm khawm vang).

Naupang leh puitling pian hnua natna lan chhuah dan:

• Hmai ruh chak loh vangin a hmui chunglam chu puan in ang mai a ni.
• Thusawi thiam lo (Dysarthria) .
• Thinlung lama harsatna nei te.
• Myotonia ai chuan taksa ruh (muscle tone) tlahniam (Hypotonia) .

Mild Myotonic Dystrophy Type 1 natna lan chhuah dan

Hetiang chi symptoms hi kum 20 leh 70 inkar atanga tan a ni tlangpui a, chung zingah chuan:

• Muscle chak lohna tlem.
• Myotonia (Myotonia) natna (Myotonia) a ni.
• Mitdel (cataract) a awm .

Naupangte Myotonic Dystrophy Type 1 natna lan chhuah dan

Hetiang chi symptoms hi kum 10 vel atanga tan a ni tlangpui a, chung zingah chuan:

• Zirna lama harsatna leh psychosocial lama harsatna (e.g. chhungkaw harsatna, lungngaihna, lungkhamna).
• Thusawi hrual (slurred) a ni.
• Kut ruh hrang hrangah myotonia a awm.
• Heart conduction a dik lo.

Myotonic Dystrophy Type 2 natna lan chhuah dan

Type 2 DM symptoms hi puitling atanga tan a ni tlangpui a, a danglam thei bawk.

A lan chhuah dan chu:

• Taksa lairil hnaih (e.g., hip leh shoulder vel muscle) chak lohna emaw, tight emaw a awm.
• Myofascial pain (muscle leh connective tissue natna) .
• Mitdel (cataract) a lo awm hma (kum 50 hmaa).
• Kut hmanga thil kan man hian myotonia degree hrang hrang a awm thin.
• Hriatna lama harsatna nei.

DM2 vei zingah natna hi complaint lian tak a ni. Heng mite hian pum, ruh ruh leh exercise neih laiin natna an nei tih an sawi.

Eng thilin nge Myotonic Dystrophy hi a thlen?

Myotonic dystrophy (DM) hi genetic disease , a awmzia chu nu leh pa atanga fate hnena genes hmanga kai theih a ni.

DM type 1 (DM1) hi DMPK tih gene-a mutations (change) avanga lo awm a ni. DM type 2 (DM2) hi CNBP an tih gene a mutations avanga lo awm a ni.

Gene pahnih DMPK leh CNBP structure inthlak danglamna inang chiah hi DM1 leh DM2 thlentu a ni. Chutiang tinah chuan DNA section pakhat chu a pangngai lo takin vawi tam tak tih nawn leh a ni. Hei hian gene-ah hian unstable region a siam a ni. DNA section hi a pangngai lo taka tih nawn tam poh leh DM symptoms chu a na zual sauh sauh a ni.

Scientific evidence atanga a lan dan chuan heng DNA repeat pangngai lo atanga messenger RNA tam lutuk siam hi toxic a ni. Hei hian cell-a protein hrang hrang siam chhuahna a tibuai a, chu chu taksa peng hrang hranga myotonic dystrophy symptoms thlentu a ni.

He natna hi thlah khat atanga thlah dangah a kai darh dan (Myotonic Dystrophy Inheritance) .

DM chi hnih hi autosomal dominant tih pattern hmanga inherit a ni . Hetiang pattern-ah hian nu leh pa pakhat chauhvin naupang hnena natna kai theihna tura a nghawng gene neih a ngai a ni. Autosomal dominant trait nei nu leh pa fa zinga a chanve chuan chu trait chu an rochun ang.

Myotonic dystrophy type 1 (DM1) hi thlah khat atanga thlah dangah a darh zel avangin a lo awm tan kum hi a naupang zawk tlangpui a, a natna lan chhuah dan pawh a na zual zel bawk. He thil thleng hi anticipation an ti a . Natna hi thlah khat atanga thlah dangah a "speed up" ang mai a ni.

Engtin nge Myotonic Dystrophy hi hriat theih? (Diagnosis) tih a ni.

DM symptoms i neih chuan doctor in a enfiah hmasa ang che a, hetiang hian a zawt ang che:

• I mimal damdawi lam chanchin.
• Chhungkaw medical history, a bik takin chhungkaw zingah DM nei an awm leh awm loh.
• I symptoms te chu.

Chumi hnuah chuan DM a awm tih finfiah nan medical test thenkhat tih a ni thei bawk.

Eng ang test nge tih thin?

Genetic testing hmangin DM a awm tih a chiang thei. Heng test te hian DMPK gene (DM1 tan) emaw CNBP gene (DM2 tan) emaw a mutations an zawng thin.

I doctor-in DM emaw natna dang emaw i neih a rinhlelh chuan, genetic testing atana an refer hmain heng test pakhat emaw a aia tam emaw an ti thei ang:

• Creatine kinase thisen test: Creatine kinase hi enzyme a ni a, thinlung leh ruhroah a awm ber a. Heng muscle cell te hi a chhiat chuan he enzyme hi thisenah a awm khawm thin. DM na lo nei te hian he level hi a sang deuh chauh a ni thei a, a pangngai pawh a ni thei bawk.
• Electromyogram (EMG) hmanga enfiah a ni.He test-ah hian needle ang chi electrode te tak te chu taksa ruh chhungah dahin, taksa peng hrang hrangte electrical activity chu teh a ni. DM vei te hian an taksa peng hrang hrangah electrical activity sang leh hniam an nei tlangpui a, chawlh hahdam lai pawhin.
• Muscle biopsy: Hetah hian doctor chuan i taksa ruh atanga tissue sample te tak te a la a, microscope hmangin DM chhinchhiahna a awm em tih a enfiah thin.

Natna finfiah a nih hnuah test dang neih leh a ni ang em?

Ni e, heng test-te hian DM a nemnghet a nih chuan, i doctor chuan DM-in a nghawng thei taksa peng thenkhat hnathawh dan enfiah turin test dang neih belh a rawt thei ang. Entir nan:

• Thinlung hnathawh dan enfiah nan electrocardiogram (ECG) test a ni.
• Pulmonary function testing hmangin neuromuscular thawk lama harsatna a awm leh awm loh enfiah a ni.
• Obstructive sleep apnea leh nitin mut tam lutuk enfiahna tur sleep study .

Myotonic Dystrophy hi enkawlna a awm em?

Vanduaithlak takin myotonic dystrophy (DM) hi damdawi a la awm lo. Chuvangin, enkawlna tum ber chu:

• Symptoms enkawl dan.
• Nunphung leh zalenna sang ber vawn reng.

DM hian taksa peng hrang hrang a nghawng avangin i natna lan chhuah dan azirin enkawl dan a inang lo thei. Chûng zîngah chuan:

• Persistent myotonia tihziaawmna tur damdawi. Entirnan, sodium channel blocker te chu Mexiletine , Tricyclic antidepressants , Benzodiazepines , emaw Calcium antagonists te hi a ni.
• Sleep apnea venna atana CPAP machine .
• Nitin mut tam lutuk tan methylphenidate ang chi stimulant.
• Cataract surgery hi mitdel, mit tikhawtlai thei tur surgery a ni.
• Zunthlum enkawl dan tur. Hei hian pills leh/ emaw insulin a mamawh thei . DM vei te hi insulin resistance vangin zunthlum vei an hlauhawm hle .
• Mipa hypogonadism tan testosterone hmanga enkawlna . DM1 vei mipa te hian testosterone level hniam leh erectile dysfunction an nei fo thin .

DM vei te tan independence sang ber neih theihna tura physical therapy leh occupational therapy te hi enkawlna pawimawh tak a ni. I taksa ruh tichak turin an pui thei che a, nitin hna thawh dan thar an zir thei bawk. Tin, tanpuitu hmanrua (e.g., brace, cane, wheelchair) hmangin zalenna i vawng reng thei bawk.

Speech-language pathology (SLP) hian ei harsatna (Dysphagia) leh thusawi thiam lo (Dysarthria) te a pui thei a ni.

Myotonic dystrophy lo awm tur hi ven theih a ni em?

DM hi thlahtu natna a nih avangin invenna tur engmah tih theih a awm lo.

Fa i neih hmain, i fate hnena DM emaw, genetic condition dang emaw i thlen theihna tur i ngaihtuah a nih chuan, i doctor nen genetic counseling chungchang sawipui rawh .

He natna hi eng prognosis nge ni?

Myotonic dystrophy (DM) awm dan tur chu natna chi leh a lan chhuah tan kum a zirin a innghat a ni. A tlangpuiin, kum naupang zawk atanga natna lan chhuah tan chuan a rah chhuah a tha lo thei a, dam rei zawng pawh a tlahniam thei bawk.

DM1 vei zinga 50% vel chuan an thih hmain an kal kual theih nan wheelchair an mamawh dawn a ni. DM2 vei te hian an natna lan chhuah dan a nasat loh avangin an kal kual theih nan assistive device an mamawh lo tlangpui.

Myotonic Dystrophy vei dam rei zawng chu engzat nge ni ang?

DM vei dam rei zawng hi natna chi hrang hrang a zirin a inang lo.

• Nausen pianpui DM1 vei zingah hian nau piang thar thihna rate hi 18% vel a ni. Congenital DM1 vei zinga 25% vel chu thla 18 an tlin hmain an thi a, 50% vel chu kum 30 an tlin hmain an thi bawk.
• Mild DM1 vei te hi an dam rei tlangpui.
• Classic DM1 vei te hian mipui zawng zawng aiin an dam rei zawk a ni.

Myotonic Dystrophy hian thihna a thlen thei em?

Ni e, myotonic dystrophy (DM) hian thihna a thlen thei. Mahse, thihna kum hi natna chi hrang hrang a zirin a inang lo. DM thihna thlentu lian ber chu neuromuscular-associated respiratory failure a ni . Cardiovascular complication te pawh hi thihna thlentu a ni thei bawk.

Myotonic dystrophy chungchangah engtikah nge doctor i hmuh ang?

DM natna lanchhuahna, taksa ruh chak lohna leh myotonia te i neih chuan doctor pan ngei ngei tur a ni.

DM i neih chuan i medical team te nen in inhmu fo tur a ni a, tuna i enkawl dan tur ruahmanna chu a tha em tih hriat chian a ngai a ni.

Nangmah emaw, i fain natna hmuhchhuah thar i neih hunah chuan tuar harsa tak a ni thei. Mahse, myotonic dystrophy (DM) vei zawng zawng hi a inang vek lo tih hre reng ang che. I tih theih ṭha ber chu DM zirchiangtu leh enkawltu specialist biak hi a ni. Enkawl dan tur an hrilh thei che a, zawhna i neih apiang an chhang thei bawk.

A tawi zawngin kan sawi tawh kha i hre reng ang u (Take-Home Message)

• Myotonic dystrophy (DM) hi genetic disease a ni a, a bik takin taksa ruh chak lohna leh tihchhiat a thlen thin.
• Myotonia hi hman zawh hnua taksa ruhte hahdam harsat tihna a ni.
• DM hi chi hnih a awm a, chungte chu DM1 leh DM2 te an ni. DM1 hian subtype dang a nei bawk.
• DM chi hrang hrang leh mi hrang hrangah hian symptoms a inang lo thei.
• Hei hi genes-a mutations vang a ni.
• He natna hi genetic test leh test dang hmanga hriat theih a ni.
• Damdawi famkim awm lo mah se, natna lan chhuah dan enkawl thei leh nunphung tichangtlung thei enkawlna a awm.
• Hemi chungchangah hian rinhlelhna i neih chuan damdawi lam thurawn la nghal rawh. Hriat hmasak a pawimawh hle.

He thu hi i tan a tangkai ngei ka beisei. Hrisel takin awm rawh!

` Myotonic Dystrophy, Taksa chak lohna, Genetic Diseases, Myotonic Dystrophy, Taksa natna, DM, Neurological Diseases