I taksa hian thunun theih loh ang maiin a hria em? Machado-Joseph Disease a ni thei ang em?

I thunun theih loh khawpa i kal ang maiin, i ke ruhte chu a hlim lo va, i thusawi laiin i thusawi chu a hlim lo ang maiin i inhriat ngai em? Heng thilte hi thil pangngai ang maia lang mah se, a chang chuan damdawi lam dinhmun chhinchhiahna a ni thei bawk. Vawiin hian condition pakhat, a buaithlak deuh, mahse hriat a pawimawh em em chungchang kan sawi dawn a ni. Chu chu Machado-Joseph Disease (MJD) a ni.

Machado-Joseph natna (MJD) hi eng nge ni?

A awlsam zawngin, Machado-Joseph disease (MJD) hi kan nervous system tichhe thei, rochun natna a ni . Ataxia tih category ah a tla a ni . "Ataxia" tih hi i tan chuan thumal thar a ni mai thei. Kan taksain taksa ruh a thunun theihna chu zawi zawiin a tlahniam tihna a ni. Coordination hloh ang maiin ngaihtuah rawh. Hei hian balance kan hloh thei a, kan taksa peng hrang hrangte pawh kan thunun thei lo.

A bik takin MJD-ah chuan kan kut leh keah hian inremna a hloh zauh zauh a. Hei hian damlote chu a danglam bik, a inthlak danglamin a kal tir thin. Mi thenkhat chuan ei leh in leh tawng harsa an nei thei bawk.

He MJD natna hian hming dang a nei a, chu chu Spinocerebellar Ataxia type 3. Dik tak chuan he MJD hi he natna chi hrang hrang spinocerebellar ataxia an tih zingah hian a tam ber a ni.

Machado-Joseph natna (MJD) hi chi hrang hrang a awm em?

Ni e, Machado-Joseph natna hi chi thum ah then theih a ni. Heng classification te hi kum a lo lan dan leh a symptoms nasat dan a zirin an siam thin.

• Type I (MJD-I): Hetiang chi hi kum 10 leh 30 inkar atanga tan a ni tlangpui a, a lan chhuah dan hi a na hle thei a, a kal chak hle thei bawk .
• Type II (MJD-II): Hei hi kum 20 leh 50 inkar atanga tan a ni tlangpui a, hun kal zelah a natna lan chhuah dan chu a zual zauh zauh thin .
• Type III (MJD-III): Hetiang chi hi kum 40 leh 70 inkar atanga tan a ni a , hun kal zelah a natna lan chhuah dan chu a zual zauh zauh thin .

Tunah chuan heng chi thum zinga pakhat zel tan hian natna lan chhuah dan leh a nihna a inang lo tih i hrethiam tawh mai thei.

Machado-Joseph disease (MJD) natna lan chhuah dante chu engte nge ni?

I symptoms i tawn dan chu eng MJD chi nge i neih tih ah a innghat.

Type I (MJD-I) natna lan chhuah dan

Hetiang chi symptoms hi a na hle a, a lo thang chak hle. Chung zingah chuan:

• Kut leh kea taksa ruh inzawmkhawm (dystonia) control loh .
• Muscle a nghet lo (rigidity) .
• Muscle tone tam lutuk (hypertonia) neih .
• Taksa chetna pangngai lo, thunun theih loh (ataxia) .
• Staggering, lurching gait a awm bawk.
• Thusawi slurred, thusawi slurred.
• Chaw ei harsa (dysphagia) .
• Mit chhuak (proptosis) .

Type II (MJD-II) natna lan chhuah dan

Hetiang chi symptoms hi hun kal zelah a zual zauh zauh thin. Chung zingah chuan:

• Thunun theih loh, taksa peng hrang hrang inzawmkhawm (spasticity) .
• Muscle contraction (spastic gait) avanga kea kal harsatna.
• Reflexes chak lohna.
• Kut leh ke inthlak danglamna inrem harsa (ataxia) .

Type III (MJD-III) natna lan chhuah dan

Hetiang chi symptoms pawh hi hun kal zelah a na zual zel bawk. Chung zingah chuan:

• Muscle a rawn inher chhuak.
• Kut, ke, ke leh kea natna, natna, leh natna (neuropathy) .
• Muscle wasting (muscle tissue hloh - atrophy ).
• Kalna nghet lo.

Symptoms langsar dangte

Heng chi hrang hrang bakah hian MJD vei te hian symptom dang engemaw zat an nei thei a:

• Mit pahnih hmuh theihna (diplopia) .
• Mit che vel control theih lohna (nystagmus) .
• Kut a khur nghal zat.
• Balance leh coordination lama harsatna awm.
• Lei emaw hmai emaw a hrual.
• Mut lama harsatna nei.
• Chronic low back natna.

Pawimawh: Hêng chhinchhiahnate hi a lo awm dun chuan, thluak lam natna dang, multiple sclerosis emaw, Parkinson’s disease emaw ang chi chhinchhiahna a ni em tih i ngaihtuah mai thei. Chuvangin, symptom thar i neih chuan emaw, symptom awmsa a lo na zual a nih chuan, a bik takin i taksa che vel leh i hman dan a nghawng a nih chuan Doctor pan nghal tur a ni.

Machado-Joseph natna (MJD) hi eng nge thlen?

He natna thlentu ber chu kan genes a mutation vang a ni . Computer code-a tihsual tenau tak, program pumpui tibuaitu ang mai a ni.

A bik takin he mutation hi kan chromosome 14- a ATXN3 tih gene-ah a thleng a, he gene-a DNA section pakhatah hian trinucleotide repeat "CAG" tih a awm a.Thil mak tak maia vawi tam tak sawi nawn fo nia sawi thil. CAG hi chemical compound pathum Cytosine-Adenine-Guanine tihna a ni.

MJD nei lo DNA-ah chuan he CAG repeat hi vawi 12 leh 43 inkar a ni. Mahse, MJD vei DNA-ah chuan he CAG repeat hi vawi 56 leh 86 inkar a ni. I natna lan chhuah tirh kum leh natna nasat dan hi CAG repeat zat nen a inzawm tlat a ni.

He natna hi autosomal dominant takin a inherit a ni . Chumi awmzia chu naupangin natna a lo awm theihna tur gene nei turin nu leh pa pakhat chauh a mamawh tihna a ni. MJD i neih chuan i fain natna a rochun theihna chance 50% a nei a ni.

Tute nge Machado-Joseph disease (MJD) vei theihna sang zawk?

MJD hi Azorean emaw Portuguese hnam chhuak zingah a tam ber a ni . Azores-a Flores thliarkar-ah chuan mi 140 zinga pakhatin he natna hi an vei nia sawi a ni. Amaherawhchu, hei hian hnam dang a nghawng lo tihna erawh a ni lo. Hnam eng pawh a nghawng thei a ni.

Machado-Joseph natna (MJD) hi engtin nge an hriat theih?

Doctor i hmuh hunah i natna lan chhuah dan a zawt ang a, taksa enfiahna a nei ang. Hetiang dinhmun hi chhungkuaah a kal avangin i biological family history chungchang sawi a pawimawh hle. I chhungkuaa midang tu pawhin heng symptoms te hi an nei a nih chuan engtik atanga an symptoms te hi a lo intan tih leh engtiang chiahin nge a lo zual zel tih zawh a pawimawh bawk.

I natna hriat chian nan i doctor chuan Machado-Joseph natna a awm leh awm loh genetic test neih a rawt thei ang . He genetic test hian i chromosome 14-a CAG triplet repeat rinhlelh awm zat a zawng thei a ni.

Machado-Joseph natna (MJD) hi engtin nge enkawl a nih?

Vanduaithlak takin Machado-Joseph natna hi damdawi a la awm lo. MJD enkawlna hian i symptoms neihte enkawl a tum a ni. Damdawi zingah hian:

• Damdawi Baclofen (Lioresal®) emaw Botulinum toxin (Botox®) te hian a chunga kan sawi tak dystonia leh taksa ruh (muscle spasms) te hi a tihziaawm thei a ni.
• Levodopa therapy hian taksa chetna slow leh stiffness tihziaawmna a ni.

Hei bakah hian physical therapy leh assistive equipment te hian damlote chu nitin hna an thawh theih nan leh an kal kual theih nan a pui thei bawk. Mit lama harsatna nei tan chuan prism glass hian double vision emaw blurred vision emaw tihtlem nan a pui thei a ni.

He natna atana clinical trial chungchang hi doctor zawt rawh.

Machado-Joseph natna (MJD) vei dam rei zawng chu engzat nge ni ang?

MJD vei dam rei zawng chu eng natna chi nge an neih tih a innghat a ni. Type I vei te hi an dam rei zawk mai thei a, kum 30 vel an ni mai thei. Mahse, type II emaw type III emaw vei te hian dam chhung pangngaiin an khawsa tlangpui.

Machado-Joseph natna (MJD) hi ven theih a ni em?

MJD hi genetic disease a nih avangin ven theih a ni lo. I fate hian natna hi an rochun mai thei tih i ngaihtuah a nih chuan naupai tur ruahmanna i siam hmain genetic counselor i biak hmasak phawt a pawimawh. In Vitro Fertilization (IVF) hmanga genetic test hmanga i fate hnena MJD kai theih lohna tur kawng a awm thei.

Engtikah nge Doctor ka hmuh ang?

Machado-Joseph natna lanchhuahna i neih chuan Doctor pan rawh. I chhungkuaa mi tu emaw chuan he natna hi a vei a nih chuan i doctor nen he natna hi i vei theihna tur chungchang sawipui a tha.

Doctor hnenah eng zawhna nge ka zawh ang?

MJD i vei tih hmuhchhuah a nih chuan i doctor hnenah zawhna hetiang hi zawt la:

• Eng natna chi nge ka neih?
• Hun kal zelah ka symptoms te hi a zual zel dawn em ni?
• Eng ang enkawlna nge i rawt?
• Ka fate hian ka hnen atangin MJD an rochun dawn em ni?

Machado-Joseph disease (MJD) ang chi diagnosis i dawn hian zawhna leh rilru natna tam tak i neih hi thil pangngai a ni. I hnaih berte hnen atangin tanpuina dil rawh. Tin, i enkawlnaah pawh active takin tel ve rawh - i appointment te chu vawng reng la, i doctor thupek zawm la, zawhna zawt rawh. Hetiang dinhmun hi i hmachhawn dan tur zir turin mental health counselor nen pawh inbiakna i nei thei bawk. I rilru put hmang chu thunun suh. Ṭhiante, counselor emaw, ṭanpuitu pawl emaw nen inbiakna neihpui rawh. Nangmah chauh i ni lo tih hre reng ang che.

Take-Home Thuchah a ni

Machado-Joseph disease (MJD) hi rochun natna a ni a, kan nervous system a nghawng nasa hle. Balance leh muscle control ang chi thil a nghawng thei. Natna chi hrang hrang a zirin symptoms a inang lo.

Hei hi damdawi la awm lo mah se, a natna lan chhuah dan tur enkawltu tur enkawlna a awm. Physics therapy leh assistive devices ang chi thilte hian nun a ti awlsam thei hle. Heng symptoms te hi i nei a nih chuan, emaw, i chhungkuaa mi tu emaw hian hetiang natna hi a nei a nih chuan, a rang thei ang bera damdawi lam pan a tha ber. Thu hriat leh ṭanpuina dik tak i neih chuan he dinhmun hi i tuar thei tih hre reng ang che.

` Machado-Joseph natna, MJD, Spinocerebellar ataxia, ataxia, thluak lam natna, genetic natna, thlahtu natna