I ke leh i hip-ah pawh taksa ruh chak lo i nei em? Limb-Girdle Muscular Dystrophy (LGMD) chungchang hi han sawi ila!

A châng chuan i ke, i kut, emaw, i hip emaw chu a chak lo deuh niin i hria em? Chair atanga tho emaw, stairs lawn emaw chu i harsat em? Thil rit tak i chawi chuan i kut chu a chak lo ang maiin i inhriat fo thin em? Chûngte chu taksa hahna mai a ni lo mai thei. Vawiin hian dinhmun hmuh tur awm lo mahse pawimawh tak kan sawi dawn a ni. Hei hi Limb-Girdle Muscular Dystrophy , a tawi zawngin LGMD an ti a.

Limb-Girdle Muscular Dystrophy (LGMD) hi eng nge ni?

A awlsam zawngin, Limb-Girdle Muscular Dystrophy hi kan taksaa taksa ruh thenkhat tichak lo zauh zauh thin, rochun natna pawl pakhat sawina tlangpui a ni. Chronic condition a ni a, dam chhung zawng a daih thei tihna a ni. Kum eng pawh a nghawng thei.

"Limb girdles" tih hi kan kephah leh kan hip vel ruh awmte hi a ni. Kan kut leh ke chu kan taksa peng (torso) nena inzawm tlat (joint) ang bawkin. Chuvangin he ``(LGMD)`` dinhmunah hian heng shoulder leh hip area nena inzawm muscle te hi a nghawng ber a ni.

``Muscular dystrophy'' tih thumal hi i hre tawh mai thei. ``Muscular dystrophy'' chi tam zawkah chuan hun kal zelah a natna lan chhuah dan chu a zual zauh zauh thin.

He natna hi engtiang chiahin nge LGMD tia koh a nih?

Dik tak chuan `(Limb-Girdle Muscular Dystrophy)` hi natna hmuh tur awm lo tak a ni . Ngaihtuah teh, America ang ramah hian heng `(LGMD)` chi zawng zawng hi i belhkhawm chuan mi sang za khatah mi pahnih vel chauh a nghawng a ni. Kan hriat leh kan sawi tam zawk `(Duchenne muscular dystrophy)` nen i khaikhin chuan (hei pawh hi `muscular dystrophy` chi khat a ni) America rama tlangval 3600 zinga pakhat vel a nghawng a ni. Chuvangin `(LGMD)` chu chu aia tlem zawk a ni.

Heng `(LGMD)` chi hrang hrang zingah hian United States-a awm tam ber chu `(LGMD R1 calpain3-related)` a ni. Hei hi `(calpainopathy)` an ti bawk. `(LGMD)` damlo zawng zawng zinga 12% leh 30% inkar chu he chi hi an ni.

Eng symptoms nge kan hmuh?

Limb-Girdle Muscular Dystrophy chhinchhiahna ber chu taksa chak lohna leh taksa ruh chhe emaw atrophy emaw a ni. Hei hian a bik takin:

• A kekawrte thlengin
• Kut chunglam (kan kut zungtang atanga kekawr bul thleng) tan chuan .
• Hip area lam pan chuan
• Thighs (kan ke ruh hip atanga khup thlenga hmun) tan .

LGMD chi hrang hrangah hian natna lan chhuah tan kum leh heng natna lan chhuah chak dan te hi a inang lo thei a ni.

Hetiang dinhmun chhinchhiahna hmasa ber chu kea kal harsatna hi a ni . Entir nan:

• Waddling gait a lo awm thei a, chu chu duck waddling gait ang mai a ni .
• Thutna hmun atang, chair emaw toilet seat emaw ang chiThawh a harsa khawp mai .
• Stairs chhoh harsat .

Tin, ke ruh leh kut chunglam ruhte a chak loh chuan hetiang thil hi a thleng thei bawk:

• Lu chunglam thleng harsa . Shelf atanga thil lak chhuah ang maiin han ngaihtuah teh.
• I hmaah i kut phar chhuah chu a harsa khawp mai .
• Thil rit phur thei lo .
• Mi thenkhat chuan ei tur pawhin an kut hman an harsat mai thei .

LGMD chi thenkhat chuan heng bakah hian characteristic dang an nei thei bawk. Chung zinga ṭhenkhat chu:

• Lung lam harsatna : Entirnan, thinlung ruh chak lohna (cardiomyopathy), conduction abnormalities, emaw arrhythmias ang chi thil te.
• Thâwk lak harsat .
• Chaw ei harsa (dysphagia) .
• Contractures , chu chu joint bending leh unbending harsa tihna a ni.
• Muscle a ti na .
• Muscle hypertrophy : A chang chuan taksa ruh chak lo mahse pawn lam atang chuan a lian zawkin a lang thei.
• Distal muscle, kut leh ke ang chi chak lohna .

Hei hian harsatna lian tak a thlen thei em?

Ni e, a chang chuan LGMD hian harsatna engemaw zat a thlen thei. Mahse, mi zawng zawng tan a inang lo. A nghawng thei thil engemaw zat a awm a:

• Eng chi `(LGMD)` nge i neih?
• Kum engzat nge a lan chhuah tan a, engtiang chiahin nge natna hi a lo zual zel tih te.
• Medical care leh symptom management facility tha tak tak i neih dan.

Harsatna awm thei thenkhat chu:

• LGMD hi naupan lai atanga tan a nih chuan kea kal ang chi gross motor skills tihkhawtlai a ni thei .
• A chi thenkhat chuan rilru lama harsatna leh zirlai harsatna a thlen thei bawk .
• Kyphosis leh/ emaw scoliosis hi hmuh theih a ni a, a bik takin naupan lai atanga intan LGMD-ah chuan.
• Lung hnathawh a tichhe thei a, chu chuan restrictive lung disease , thawk lama harsatna emaw thawk lama harsatna emaw a thlen thei a ni.
• Ei leh in harsat vangin malnutrition a awm thei.

Engvangin nge hetiang hi a lo awm? Eng nge a chhan?

Limb-Girdle Muscular Dystrophy thlentu ber chu genes-a mutations a ni.. Heng genes te hian taksa peng hrang hrang (muscle structure and function) hrisel tak enkawltu an ni. Chuvangin heng genes-ah hian inthlak danglamna a awm chuan, taksa ruh enkawltu tur cell-te chuan chu hna chu an thawk tha thei lo. Chuvang chuan hun kal zelah taksa ruhte chu a chak lo zauh zauh a. `(LGMD)` chi hrang hrang nena inzawm genetic change bik a awm.

Heng genetic changes te hi kan nu leh pate atanga rochun a ni. LGMD hi chi hnih ah then a ni a, chu chu genes inherit dan azirin a ni:

• LGMD Group D : Hengte hi ``autosomal dominant inheritance.`` tih pattern-ah a thleng a, hei hian natna thlentu genetic mutation chu nu leh pa pakhat chauhin a rochun pawhin a lo awm thei tihna a ni.
• LGMD R group : Hengte hi ``autosomal recessive inheritance.`` tih pattern-ah a thleng a, hei hian natna thlentu genetic mutation chu nu leh pa pahnih atanga rochun a ngai tihna a ni.

LGMD chi hrang hrang a awm em?

Ni e, `(Limb-Girdle Muscular Dystrophy)` hi subtype engemaw zat a awm. Researcher leh doctor-te chuan heng subtype-te hi classified nan hian special naming structure an hmang a. "LGMD" tih letter leh thil dang tlemte atanga siam a ni:

• Genes inherit dan : "D" tih hi `(autosomal dominant inheritance)` tihna a ni. "R" tih hi `(autosomal recessive inheritance)` tihna a ni.
• Order of discovery : Zirchiangtute chuan heng subtype te hi an hmuhchhuah dan tur angin number an pe a.
• Protein emaw gene emaw nghawng : Hei hi "[gene emaw protein hming] nena inzawm" tia tarlan a ni. Entirnan, `(calpain3 nena inzawm)`.

Hei hi chi hrang hrang a awm a. A pakhat zel sawifiah chu a buaithlak deuh a, chuvang chuan chipchiar takin kan sawi dawn lo. Mahse i doctor chuan hemi chungchang hi a hrilh belh thei che a ni.

Engtin nge doctor-te hian hei hi an hriat chhuah?

Nangmah emaw i fa emaw chu Limb-Girdle Muscular Dystrophy symptoms nei nia rinhlelh i nih chuan doctor chuan physical exam , neurological exam , leh muscle exam a ti mai thei. I symptoms te leh i chhungte zingah hian heng natna hi an nei tawh em tih te an zawt ang che.

LGMD i vei nia i rinhlelh chuan a hnuaia test pakhat emaw a aia tam emaw hi tih a tha thei ang:

• Creatine kinase thisen test : Muscle a chhiat chuan enzyme ``creatine kinase`` tih chu thisenah a chhuak thin. Chuvangin a level a san chuan ``muscular dystrophy.`` tih natna chhinchhiahna a ni thei
• Genetic tests : Heng test te hian LGMD subtype thenkhat nena inzawm genetic changes te chu a hriat theih a ni. Hei hi eng LGMD subtype nge i neih tih chiang taka confirm theihna awmchhun a ni .
• Muscle biopsy hmanga tih a ni: Hei hian i taksa ruh (muscle tissue) sample tlemte lak a, specialist-in microscope hmanga enfiah tir a huam a ni. Hei hian muscular dystrophy symptoms i neih leh neih loh hriat theih nan a pui thei a ni.
• Electromyography (EMG) : He test hian taksa ruh leh nerve te electrical activity a teh thin.

Nangmah emaw i fa emaw hian LGMD i vei tih hmuhchhuah a nih chuan i doctor chuan i thinlung leh lung hnathawh that dan enfiah turin heart leh pulmonary function test a order fo ang. He natna hian chutiang taksa pengte pawh a nghawng em tih hriat a pawimawh.

Enkawlnate chu engte nge ni?

Lungchhiatthlak takin tunah hian Limb-Girdle Muscular Dystrophy hi damdawi a la awm lo a , mahse zirchiangtute chuan an la thawk chhunzawm zel a ni.

Tuna enkawlna hman mekte tum ber chu symptoms enkawlna leh nunphung tihchangtlunna tura puih hi a ni . LGMD i neih chi hrang hrang a zirin enkawlna kawng hrang hrang a awm thei. Chung zinga ṭhenkhat chu:

• Physical leh occupational therapies : Hengte hian taksa ruh tichaktu a ni ber a, stretching exercise a ti bawk. Nitin hna awlsam zawka tih theih dan tur leh mobility vawng reng thei tur kawng zawng turin an pui che a ni.
• Corticosteroids : Corticosteroids prednisolone leh deflazacort te hian taksa chak lohna a tiziaawm thei a, lung hnathawh a tichak thei a, hnungzang natna a tikhawtlai thei a, cardiomyopathy natna a tizual thei bawk. Mahse, LGMD chi hrang hrang tan an thawk lo. A bik takin chi thenkhat tan chuan an tangkai hle a, LGMD R9 FKRP nena inzawm te hi an ni.
• Mobility aids : Cane, brace, walker, leh wheelchair ang chi device te hian kal leh kal a ti awlsam a, tlu lo turin a pui a, hahna a ti tlem bawk.
• Surgery : LGMD vei thenkhat chuan tight muscle-a tension tihziaawmna tur leh scoliosis siamthat nan operation an mamawh mai thei.
• Thâwk lam enkawlna : Khuh puitu hmanrua leh thawkna hmanrua te hian thawk a ti awlsam thei hle. Thâwk lama harsatna nasa tak a awm chuan tracheostomy (thâwk chhuahna kawnga khur siam) leh assisted ventilation tih a ngai thei.
• Heart care : Damdawi ACE inhibitor leh/ emaw beta-blockers te hi a hmaa tan a nih chuan cardiomyopathy natna a tikhawtlai thei a, heart failure lo awm tur a veng thei bawk. Pacemaker hian heart rhythm lama harsatna leh heart failure te a tidam thei a ni.
• Speech therapy: He therapy hi ei harsatna nei tan chuan a hlawkpui thei hle.
• Clinical trials : LGMD i neih chi leh i awmna hmun a zirin clinical trial thara tel theihna hun i nei thei bawk. Tunah hian LGMD atana clinical trial kalpui mek a pung zel a ni.

LGMD enkawl tur hian specialist team a ngai fo thin a, nang leh i fa tan pawh. Chûng zîngah chuan neurologist, physiatrist, geneticist, orthopedist, physical therapist, occupational therapist, cardiologist, pulmonologist, psychologist, leh social worker te pawh an tel thei a ni.

LGMD vei tan chuan eng nge a hmalam hun?

LGMD vei tan chuan researcher leh doctor te tan chuan prognosis hi eng nge ni tih chiang taka sawi a harsa hle. Mahse i medical team chuan i beisei tur chungchangah a tam thei ang ber information an pe ang che.

A tlangpuiin LGMD hi naupan lai atanga tan a nih chuan natna hi a zual chak zawk a, harsatna a awm tam zawk bawk . Mahse, LGMD hi puitling naupang emaw, puitling emaw atanga tan a nih chuan a nasat loh tlangpui a, natna hi a zual zawi zawk thin .

Eng chen nge he thil hi i dam theih ang?

LGMD vei dam rei zawng hi eng LGMD subtype nge an neih leh a kal chak danah a innghat nasa hle . A tlangpuiin LGMD vei, lung natna leh thawk harsatna ang chi harsatna nei te hian chutiang harsatna nei lote aiin an dam rei zawk thei a ni.

Hei hi ven dan tur a awm em?

Limb-Girdle Muscular Dystrophy hi genetic condition a nih avangin tunah hian a venna tur engmah tih theih a awm lo .

Fa neih i tum a, LGMD emaw, genetic disease dang emaw i kai thei tih i hlau a nih chuan, i doctor nen genetic counseling chungchang sawipui a tha ang

LGMD i neih chuan harsatna i neih loh nan emaw, tihkhawtlai emaw tur leh i nunphung tihchangtlun nan thil engemaw zat i tih theih a awm a:

• Malnutrition laka inven nan ei leh in tha, nutritious ei thin ang che .
• Tui tam tak in la, chu chuan dehydration leh constipation a veng ang.
• I medical team-in an rawt angin exercise light to moderate ti rawh .
• I taksa rihna hrisel tak vawng reng rawh .
• I lung leh thinlung venhim nan meizuk loh tur .
• A hun takah vaccine lak thin ang che .

LGMD vei hi engtin nge ka enkawl ang? A nih loh leh ka neih chuan engtin nge ka tih ang?

Limb-Girdle Muscular Dystrophy i vei a nih chuan, emaw, a vei i enkawl a nih chuan, damdawi lam enkawlna leh enkawlna tha ber berte chu i sawisel a, i zawn a pawimawh hle Chutianga i tih chuan nunphung ṭha ber i neih theih nân a ṭanpui ang che.

Nang leh i chhungte pawhin support group i zawm thei bawk . Hei hian nangmah ang bawka thil tawn tawh midangte nena inhmuhna hun remchang a pe ang che a, anmahni nen inbia a, ngaihdan insem theihna hun remchang a pe bawk ang che. Chakna hnar ropui tak a ni ang.

Engtikah nge Doctor ka hmuh ang?

Limb-Girdle Muscular Dystrophy i vei chuan i medical team te chu enkawl fo tur a ni a , enkawlna dawng tur leh i symptoms te enfiah thin tur a ni.

Limb-Girdle Muscular Dystrophy (LGMD) i hmuhchhuah dan hriatthiam chu a buaithlak thei hle. Mahse i medical team chuan i symptoms ang zela management plan siam turin an pui thei che a ni. A pawimawh ber chu i mamawh support i hmuh theih nan leh i hriselna lam ngaihtuah reng tur a ni . I medical team te chu nang leh i chhungte tanpui turin an awm reng tih hre reng ang che.

A tawp berah chuan thil hriat reng tur

Limb-Girdle Muscular Dystrophy (LGMD) hi genetic condition a ni a, zawi zawiin shoulder leh hip area-a muscle te a tichak lo. Rare condition ni mahse, a symptoms hriat chian a pawimawh.

• A lan chhuah dan ber : Kekawrte, kut chunglam, hip, leh kekawrte ruh chak lo, kal harsa, leh thil rit phur thei lo.
• A chhan : Genetic danglamna.
• Enkawl dan : Tunah hian damdawi a la awm lo. A tum ber chu symptoms enkawl leh nunphung tihchangtlun a ni. Physical therapy, occupational therapy, leh a tul chuan damdawi leh hmanrua te hi a pawimawh hle.
• A pawimawh ber : natna hriat hmasak, damdawi lam thurawn dik leh enkawl dan. Chhungkaw \anpuina leh \anpuitu pawlte pawh a pawimawh hle.

Hemi chungchangah hian zawhna dang i neih chuan i doctor biak pawh hlau suh. An pui ang che.

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