Lafora Disease chungchang hi i zir chiang ang u. I fa hian heng symptoms te hi a nei em?

I fa chu a fidget reng ang em? A nih loh leh sikul hnathawhnaah a rilru a pe harsa em? A thusawi emaw, a nungchang emaw a inthlak danglam tih a hmu a ni mai thei? Hengte hi a chang chuan kan ngaihven vak loh thilte a ni a, mahse Lafora Disease tih hming pu natna hlauhawm tak chhinchhiahna a ni thei. Chuvangin vawiin hian he thu hi tlem han sawi ila, kan sawi dawn em ni?

Lafora Disease hi eng nge ni?

A awlsam zawngin Lafora natna hi epilepsy chi khat a ni. Fit (seizures) fo thin leh naupang ngaihtuahna, hriatrengna leh thil hriatthiam theihna tlahniam zauh zauh (cognitive function) te a ni. Doctor-in ‘Lafora progressive myoclonus epilepsy’ a tih pawh i hre mai thei. Chu chu a damdawi lam hming kimchang chu a ni.

Heng natna lan chhuah dan hi naupan lai, kum riat vel emaw, puitling hma emaw atanga tan a ni tlangpui. Thil lungchhiatthlak tak chu, heng symptoms te hi hun kal zelah a zual zel thin. Enkawlna hmang pawhin Lafora natna hian kum 10 chhungin nunna atana hlauhawm harsatna a thlen thei a ni. Amaherawhchu, zirchianna thar leh enkawlna tha zawk a awm avangin naupang thenkhat chu beisei aia rei an dam rei ta hle mai. Chuvangin beiseina bansan suh.

He Lafora Disease hian mi tam tak a nghawng em?

Ni e, hei hi natna hmuh tur awm lo tak a ni . Khawvel hmun hrang hranga zirchianna an neihah chuan kum tin mi maktaduai khatah pali velin he natna hi an vei tih a tarlang. Mahse, he zat hi a tam zawk mai thei. Hei hi mi thenkhatin an hriat chian loh vang emaw, natna an report loh vang emaw a ni a, chuvangin heng zat hi a tlem hlein a lang thei.

Lafora Disease symptoms te chu engte nge ni?

Lafora natna vei naupang chuan a hnuaia chhinchhiahna pakhat emaw a aia tam emaw a nei thei a ni.

• Seizures: Hei hi a symptom ber a ni.
• Cognitive decline: Naupangin zirlai a hrethiam lo thei a, thil thar zir a harsat phah thei bawk.
• Thusawi harsa: Thusurring leh thusawi slow a awm thei.
• Balance hloh, kea kal laiin wobbling (balance leh coordination challenges): A bik takin, line dik taka kal chu a harsa thei a, chu chu thil vawn laia tihsual ang chi te hi a ni.
• Muscle stiffness (spasticity): Ke ruhte chu ben emaw, tihdik emaw a harsa a, taksa pawh a nghet hle tih a hriat.
• Nungchang inthlâk danglamna: A hma aiin i rilru a na zual mai thei a, a nih loh leh i thinrim mai mai thei bawk.
• Mood swings: A châng chuan, depression- ang chi dinhmun a awm thei a, chu chu i lungngai reng tihna a ni a, engmah ngaihvenna i nei lo. A nih loh leh, ngaihsak lohna i nei thei bawk.
• Hriatrengna hloh leh dementia ang chi dinhmun: Thil tenau ber pawh i theihnghilh a, hun kal zelah tu nge i nih leh khawiah nge i awm tih pawh i hre lo mai thei.

Lafora natnaah hian seizure chi hrang hrang hmuh theih

I fa hian Lafora syndrome vei hian fit chi hrang hrang a nei thei. Eng nge an nih hi han thlir ila:

• Myoclonic seizures: Hei hi rang tak, rang tak, duh loh zawnga taksa ruh inthlak danglamna a ni. A tawi thei a, electric jolt ang maiin an awm thei. Hetiang seizure hi Lafora natnaah hian hmuh tur a tam ber .
• Occipital seizures: Hei hian mit a hloh nghal thei a, a nih loh leh hallucinations a thlen thei bawk.
• Tonic-clonic seizures: Hei hi mi tam takin "seizure" an tih chu a ni. Taksa chhunga thau te chu a nghet a, a jerky bawk.
• Absence seizures: Hetah hian naupang chuan thil tih a chawlhsan nghal a, space lam a en mai mai a ni. Second tlemte chhungin an hriatna an nei leh ta a ni.
• Complex partial seizures: Hei hian blank stare, tum nei lovin taksa peng hrang hrang tihngheh emaw, thil pakhat tih nawn fo emaw a huam thei bawk.
• Atonic seizures: Hei hi taksa ruhte chakna a hloh thut a, chu chuan naupang chu leiah a tlu ta a ni.

Heng fits te hi natna a zual zel a, a lo awm fo thin avangin a na zual zel a ni. Doctor ten a tir lamah thunun thei mah se, hun kal zelah a harsa zual zel.

Lafora symptoms a pun chhoh dan

Lafora natna lanchhuahna hi hun kal zelah a zual zel a. Hei hi thla engemaw zat atanga kum engemaw zat thleng a daih thei. A tirah chuan heng symptoms te hi annoyances tenau tak angin a intan a, mahse zawi zawiin naupangin nitin hna a thawh theihna leh midangte nena inpawh theihna a tikhawtlai thin.

Lafora natna an vei tih hriat a nih aṭanga kum ruk vêlah, damlo zînga a chanve vêl chuan an chezia an thunun thei lo tih han ngaihtuah teh . I fa chu a kal thei lo mai thei a, a tawng thei lo va, a thut thei lo bawk. Engtik lai emaw chuan an hlim theih nan darkar 24 chhung enkawl an ngai mai thei. Hei hi hriat a lungchhiatthlak hle a, mahse heng thilte hi hriat chian a pawimawh hle.

Lafora symptoms hi engtikah nge a intan?

Lafora natna hi kum 8 leh 19 inkar atanga tan a ni tlangpui a, kum 14 leh 16 inkar vel a ni tlangpui a, mahse, a chang chuan he natna hian naupang kum 5 te pawh a vei thei a ni.

He Lafora natna hi eng nge a chhan?

Lafora natna thlentu ber chu genetic mutation a ni.. A dik zawka sawi chuan he natna hi genes `EPM2A` emaw `EPM2B (NHLRC1)` emaw a mutation vang a ni. Hei hi hetiang hian a thleng a ni: Nau a pai hian naupang chuan he mutated gene copy khat chu nu leh pa hnen atangin a dawng tur a ni. Damdawi lam hawi chuan hei hi `autosomal recessive` inheritance an ti a.

Heng genes te hi `EPM2A` emaw `EPM2B` tia koh te hian kan taksaa chakna khawlkhawmtu glycogen an tih chu uluk taka processing hna thawktu an ni. Tunah chuan heng genes te hi an inthlak chuan glycogen dik taka process dan tur thupek chu a buai ta hle a ni. Chutah thil thleng chu he glycogen hi hman dik a nih loh avangin hnah te te ( Lafora body an tih) a lo awm ta a ni. Heng Lafora taksa te hi kan nervous system cell, taksa ruh, chhungril peng leh tissue te ah te an awm a. Tichuan kan nervous system leh heng Lafora taksa dahna hmun dangte hian hna a thawk tha thei lo. Chu chu Lafora natna lanchhuahna chhan a ni. I hrethiam em?

Tute nge Lafora natna vei theihna sang zawk?

Tu pawhin Lafora natna hi an vei thei a, mahse Mediterranean bial chhehvela ram (Spain, France, leh Italy ang chi), North Africa ram, India, leh Pakistan -a chengteah a tam zawk a ni.

Lafora natna avanga harsatna awm thei te chu engte nge ni?

Lafora natna hian ‘status epilepticus’ an tih natna a thlen thei a, chu chu vawi khatah minute 15 aia tam seizure chhunzawm zel emaw, seizure a tawp a, a hnua seizure dang a awm hnua hriatna a neih leh hmaa seizure dang a awm leh chuan a awm thei a ni. Hei hi nunna atana hlauhawm medical emergency a ni.

Lafora natna a nasat chuan a hmaa ka sawi tawh Lafora taksa te chu taksaah an pungkhawm a, chu chuan naupang taksa peng hrang hrang a ti buai a, a chang chuan a titawp vek a ni. Hei hi he natna avanga thihna rang tak chhan a ni.

Engtin nge Lafora natna hi hriat chhuah a nih?

A tlangpuiin naupangin seizure a neih tan chuan nu leh pa emaw, enkawltu emaw chuan doctor an pan ang. Doctor chuan taksa enfiahna a nei ang a, thluak lam enfiahna a nei ang a, i fa natna lan chhuah dan leh damdawi lam chanchin a zawt ang.

Tichuan, heng symptoms awm chhan dik tak hriat tumin test eng emaw zat an order ang. Heng test-ah hian:

• EEG (Electroencephalogram - EEG): Hei hian thluaka electric hnathawh dan a teh a.
• MRI (Magnetic Resonance Imaging - MRI): Hei hian thluak chipchiar taka thlalak a la a.
• Skin biopsy: A chang chuan vun te tak te an la a, Lafora taksa a awm leh awm loh an enfiah thin.
• Genetic test: 1.1.Hei hian a hmaa ka sawi tawh genes-ah hian inthlak danglamna a awm leh awm loh a nemnghet ang.

Hetiang hian doctor engemawzat i hmuh a ngai mai thei a, i fa dinhmun dik taka hriat theih nan test eng emaw zat i kalpui a ngai mai thei. Mahse, test zawng zawng hi natna dang, a lan chhuah dan inang lote chu paih chhuah a, i fate tana enkawlna dik tak i hmuh theih nan ruahman a ni tih hre reng ang che.

Lafora natna hi engtin nge enkawl a nih?

Dik tak chuan Lafora natna hi damdawi a la awm lo . Tuna enkawlna hman mekte hi symptoms control nana hman a ni ber. Chûng zîngah chuan:

• Fit tanna control nan antiseizure damdawi.
• A bik takin myoclonic seizure tan chuan damdawi valproic acid, perampanel, benzodiazepines te pek theih a ni.
• Physical therapy emaw occupational therapy emaw hian a theih ang anga rei tak chhung taksa chakna vawng reng turin a pui thei a ni.

Symptoms a zual deuh deuh chuan control a harsa zual sauh sauh thin. Mahse i fa enkawltu medical team chuan i fa chu a hlim thei ang bera siam turin theihtawp an chhuah ang.

Lafora natna vei tur chu eng nge ni?

Dik tak chuan Lafora natna thlirna hi a tha vak lo. Chu chu naupang chu he natna avang hian a thi thuai thei tihna a ni. Sawi tawh ang khan hei hi damdawi a la awm lo.

I fa chu Lafora syndrome a vei tih hriat a nih hnuah, genetic counselor hmuh a tha ang . Ani chuan he natna chungchang te, i fa a nghawng dan te a hrilh belh thei che a, i fa enkawl dan tur leh i chhungkaw tana \ha tur \anpuina i hmuh theihna tur hmun chungchangah thurawn a pe thei bawk che a ni.

Chhungkaw tam tak pawhin rilru lam hriselna lama counselling hi tanpuina nasa tak niin an ngai bawk. A chhan chu Lafora natna hi rang takin a na thei a ni. I fain symptoms a tuar lai hmuh te, thil tha tak tak te chu zawi zawiin a bo vek tih hmuh te hi nu leh pate tan chuan tuar harsa tak a ni. Hei hian i rilru hriselnaah nghawng lian tak a nei thei a ni. Chuvang chuan he hun khirh tak karah hian nangmah ang bawkin chhungte i enkawl a pawimawh hle a ni.

Lafora natna vei dam rei zawng chu engzat nge ni ang?

Lafora natna vei naupang dam rei zawng chu a natna lan chhuah tan atanga kum 10 vel a ni . Naupang tam tak chu puitling tleirawl thlengin an dam khawchhuak thin.

Lafora natna hi ven theih a ni em?

Lafora natna laka inven dan tur hriat a la ni lo. Mahse, chhungkaw din i tum a nih chuan i doctor nen genetic testing chungchang i sawipui thei a, chu chuan he natna rochun nei fa i neih theihna tur a awm tih i hre thei ang.

Engtikah nge ka fa chu doctor hnenah ka hruai ang?

I fa tanI dam chhunga a vawi khatna atana seizure i neih chuan emergency services call nghal rawh. A pawimawh hle mai.

Tin, i fain heng thilte hi a neih chuan doctor hnenah hrilh bawk ang che:

• Nungchang emaw rilru put hmang emaw inthlak danglamna a awm chuan .
• Kal laiin balance emaw coordination emaw lama harsatna i neih chuan .
• Thusawi a harsa ang tih a hriat chuan .
• I lungkham reng a, sikul hnathawh hriatthiam harsa i tih chuan .

Ka fa doctor hnenah eng zawhna nge ka zawh ang?

Hetiang zawhna hi i zawt thei ang:

• 'Doctor, engtin nge ka fa chu ka puih theih ang?'
• 'Eng ang enkawlna nge i rawt?'
• 'Eng symptom dang nge ka fimkhur tur?'
• 'Ka fa dam chhung chu eng ang nge ni ang?'
• 'He natna hi clinical trial thar a awm em?'

I fain an seizure hmasa ber a neih lai hmuh a, chu mi hnua a vawi khatna apiangah chuan thil hlauhawm tak a ni thei. I fate chu Lafora natna lan chhuah danin a rawn man hma loh chuan darkar a ri ang maiin i inhria thei bawk. Lafora hi a dinhmun a lungchhiatthlak hle. Mahse he zinkawng hi nangmah chauhin i paltlang a ngai lo. I fa enkawltu medical team te chu i tanpui turin an awm reng a ni. I fate mamawh zawng zawng pek an tum ang a, an rilru hahdam taka awmtir an tum ang.

Tin, i fa medical team te hian he hun harsa tak karah hian nang leh i chhungkaw dangte pawh an pui thei bawk. Mental health counselor nena inbiakna neih emaw, chutiang thil tawn tawh midangte nena support group-a tel emaw chu a \angkai hle mai thei. Enkawlna thar leh ṭha zawkte chuan naupang ṭhenkhat chu an beisei aia rei an dam tihna a ni fo tih hre reng ang che. Chuvangin, beiseina chu bansan ngai suh.

Take-Home Thuchah hnuhnung ber

Lafora Disease hi a harsa hle a, a awm lo hle bawk. Hetiang thil i hriat hian lungngaihna leh lungngaihna i neih hi thil pangngai a ni. Mahse, a pawimawh ber chu nangmah chauh i ni lo tih hriat hi a ni. I fa tan damdawi lam enkawlna tha ber pe thei tur leh nang leh i chhungte he hun harsa tak paltlang tura pui thei tur mi an awm. Research thar leh enkawlna thar chungchang hriat reng tur. Beiseina nei reng rawh. Tin, he zinkawngah hian i rilru hriselna enkawl hi theihnghilh suh. I chak poh leh i fa chu a tha zawk ang.

` Lafora natna, Migraine, Fit, Seizure, Genetic Diseases, Naupang natna, Neurological Diseases, EPM2A, EPM2B, Lafora Bodies, Lafora Bodies