Nang pawh hian exercise i tih emaw, thawhrimna tlemte i tih emaw hian a châng chuan i na a, i chak lo hle a ni lawm ni? Chu chu thil pangngai a ni. Mahse mi thenkhat tan chuan he dinhmun hi a tam lutuk deuh. Thil tenawm tak tih pawhin i chau nghal vat a, i taksa ruhte pawh a na a, a tight bawk. Vawiin hian kan sawi dawn a, thil awm lo tak, mahse hriat tur pawimawh tak kan sawi dawn a ni. Hei hi McArdle natna, a nih loh leh `glycogen storage disease type 5 (GSD5)` an ti a.
McArdle Disease hi eng nge ni?
A awlsam zawngin sawi ila, McArdle natna hi kan chhungkuaah kal zel, genetic condition a ni . I ruhro a nghawng ber a ni . Chu chu, kan taksa peng hrang hrang, kan chet velna, thil kan chawi, leh kan kalna atana kan hman thin ruh (muscles) te hi a ni.
He natna hi kan taksa peng hrang hranga enzyme bik `muscle glycogen phosphorylase` emaw `myophosphorylase` emaw a tlakchham emaw, a awm loh vek emaw avanga lo awm a ni. He enzyme hi a awm loh vek chuan kan taksa ruhte hian chakna mamawh chu a siam chhuak thei lo. Chuvang chuan exercise kan neih lai emaw, kan hah lai emaw hian taksa ruh na, taksa khauh, leh hah ang chi symptoms a lang thin.
Kum 15-20 hnuah emaw, kum 20 emaw 30 emaw vel atang hian natna lan chhuah dan a lang tan tlangpui . Mahse, a chang chuan kum eng pawhah a lo lang thei. He natna hi kum 1951-a a report hmasak ber Dr. Brian McArdle hming chawia "McArdle" tih a ni.
He natna hi engtiang chiahin nge a hluar?
McArdle natna hi a takah chuan a awm lo hle a ni . Zirchiangtute sawi dan chuan United States-a mi 50,000 zinga pakhat leh 200,000 zinga pakhat inkar a ni.
Eng nge a lan chhuah dan?
He natna lan chhuah dan hi mi hrang hrangah a inang lo thei hle. Mi thenkhat chuan symptoms na lo tak tak an nei thei a, thenkhat erawh chuan a na zawk thei bawk.
A lan chhuahna ber leh langsar ber chu exercise intolerance a ni a, chu chu taksa tihchakna i tih hian chau nghal vat tihna a ni . A lan chhuah dan dangte chu:
- Muscle a ti na hle
- Chaklohna
- Chau
- Muscle na a na
- Muscle a nghet lo
Heng symptom zawng zawng hi exercise i tan tirh veleh a lang thei vek a ni. Mahse rei vak lo chawlh hnuah an reh tlangpui . Mak tak maiin mi thenkhat chuan a tir lama an chau tih an hriat hnuah rei vak lo chawlh an la a, chu exercise ang bawk chu an tih leh chuan a hma aia tha zawkin an ti thei tih an hmuchhuak. Hei hi "thli pahnihna" an ti a. Thli pahnihna nei ang mai a ni. Exercise i tih loh hian a tlangpuiin symptoms i nei lo.
Lei level-a kal ang chi exercise light, gentle tak tak, harsatna awm lovin i ti thei mai thei. Mahse, taksa tihchakna nasa tak chuan natna lan chhuahna a thlen thuai thei a ni. A bîk takin, taksa ruhte chu che lovin a hmuna vawn tlat, isometric exercise , squatting, leh i ke ruh chunga ding ang chi exercise-te chuan taksa ruhte chu a tichhe thei a ni. Gas cylinder i chawi emaw, bag rit tak i phur lai emawa i rilru hahna chu han ngaihtuah teh.
Hei hian harsatna lian tak a thlen thei em? (Buaina awm thei) .
Ni e, a châng chuan harsatna lian tak tak a lo thleng thei a ni. McArdle natna vei zinga a chanve vel chuan exercise nasa tak an neih hnuah `rhabdomyolysis` tih natna an nei thin . Hei hi taksa ruh (muscles) a chhe lai a ni.
Rhabdomyolysis hi natna khirh tak, nunna atana hlauhawm tak a ni a , chu chuan kal a tichhe nghal (acute kidney failure) a thlen thei a, thisenah potassium hlauhawm takin a sang thei bawk (hyperkalemia).
Chuvangin exercise i tih nasat zia leh i tih nasat danah i fimkhur hle a ngai a ni . Hei hian `rhabdomyolysis` natna a veng thei dawn a ni. I taksa ruh hring, zun dum (brown, red, tea-colored) ang chi symptoms i neih chuan doctor lam pan nghal tur a ni
Engvangin nge hetiang hi a lo awm? Hei hi eng chhan nge ni?
McArdle natna hi genetic condition a ni a . A bik takin, gene `PYGM`-a mutations avanga lo awm a ni. A tlangpuiin he `PYGM` gene hian kan taksa chu enzyme `myophosphorylase` tih siam turin a hrilh thin.
He enzyme hi kan skeletal muscle cell-ah chauh a awm a. Muscle-a glycogen (stored sugar) chu glucose-1-phosphate-ah a ti chhe vek a ni. He glucose-1-phosphate hi glucose-ah a inthlak leh ta a ni. Glucose hi kan taksa chakna petu ber a ni . Exercise kan tih hian kan taksa peng hrang hrangte hian he glucose hi an hmang nasa hle.
Tunah chuan `PYGM` gene inthlak danglamna avanga `myophosphorylase` enzyme siam chhuah tlem emaw, siam chhuah loh emaw a nih chuan kan taksa peng cell te hian `glycogen` hi uluk takin an tichhia a, chakna (`glucose`) an siam thei lo. Chuvang chuan taksa ruhte chu a chau nghal vat thin.
Tun thlengin zirchiangtute chuan `PYGM` gene nghawng thei variation (variant) hrang hrang 179 an hmuchhuak tawh a ni.
McArdle natna hi a rochun dan
I nu leh pa dik tak hnen atangin natna hi i rochun a, ``autosomal recessive`` pattern ah . A awlsam zawngin sawi ila, nu leh pa pahnih hi altered gene ``carrier`` an ni tur a ni a, chu chu an pahnih hian an bulah gene an nei tihna a ni.Carrier te hian symptom an nei lo tlangpui. Mahse, nu leh pa pahnih hi carrier an nih a, an pahnih hian gene danglam chu an fate hnenah an pe chhuak a nih chuan natna hi a lo awm ta a ni.
Engtin nge doctor-te hian hei hi an hriat chian? (Diagnosis) tih a ni.
Doctor-te chuan he natna hi hriat theih nan forearm exercise test an hmang ber a ni. Hei hian i kut hmawr hmanga exercise tlemte i tih hma leh i tih zawh hnua thisen sample lak a huam a ni. A bik takin `lactic acid` leh `ammonia` level an en thin.
A tlangpuiin exercise hnuah lactic acid level hi a let thum velin a sang tur a ni. Mahse, he test-ah hian i lactic acid level a sang lo a nih chuan McArdle natna i vei theihna chhinchhiahna a ni.
He natna hi finfiah theihna tur test dang a awm bawk:
- Creatine kinase (CK) thisen test: Muscle a chhiat chuan thisenah enzyme pakhat creatine kinase (CK) a lo awm khawm thin. McArdle natna vei te hian CK hi an nei sang reng thei a ni.
- Graded exercise stress test: Hei hian "second wind" tia hriat phenomenon chu a test thei a ni. Doctor chuan exercise round engemaw zat a ti ang che, a inkar ah chawlh hahdam la, chawlh hnuah exercise i ti tha thei em tih a en ang.
- Muscle biopsy: He test-ah hian doctor chuan i skeletal muscle sample te tak te a la a, microscope hmanga en turin lab-ah a thawn a. Pathologist chuan tissue chu McArdle natna chhinchhiahna a awm leh awm loh a en a.
- Genetic testing: Hei hian McArdle natna thlentu genetic mutation bik chu a hriat theih mai thei.
Hemi chungchangah hian eng nge kan tih theih ang? (Tihdamna)
Vanduaithlak takin McArdle natna hi damdawi a la awm lo . Enkawlna ber chu i natna lan chhuahna tizual thei thil tih loh hi a ni. Mahse, taksa tihchakna engmah tih loh hi i hriselna atan pawh a tha lo.
Research atanga a lan dan chuan McArdle natna vei tan chuan moderate-intensity, graded aerobic exercise therapy hi a hlawkpui thei a ni. Hetiang exercise ti thinte hian exercise intolerance nasa takin an ti tlem a, exercise an tih laiin chu "second wind" chu an tawng rang zawk thei bawk. I doctor leh physical therapist te nen thawk hovin i tan exercise therapy plan tha ber i zawng thei ang.
Tin, carbohydrates tamna eitur pawhZirna hrang hrangah chuan a ei hian exercise neih laiin symptoms nasatzia a tiziaawm thei bawk. Hei hian i taksa ruhte chu chakna atan glycogen aiah i thisena glucose (sugar) hmang turin a pui a ni. I doctor emaw, registered dietitian emaw chuan hetiang hian ei tur ruahmanna a rawn rawt thei ang:
- Nitin i calorie 65% chu complex carbohydrates (thlai, thei, chhang, pasta, leh buhfai ang chi thil atanga lo chhuak) atanga lo chhuak tur a ni .
- Thau atanga calorie 20% .
- Protein atanga calorie 15% .
Exercise neih hma lawk hian sugar awlsam tak, sugary sports drink ang chi ei hi a \angkai thei bawk.
Hei hi engtin nge nunpui chu a nih?
McArdle natna vei tam zawk hi chu nun pangngaiin an hmang thin . Mi thenkhat chuan nakin lawkah chak lohna leh taksa ruh tihchhiat (`atrophy`) an nei thei a, a tlangpuiin kum 60 emaw 70 emaw vel an ni.
A pawimawh ber chu a chunga kan sawi tak `rhabdomyolysis` natna lan chhuah dan hriat chian a , a theih ang anga lo awm lo tura ven hi a ni a, hei hi he natna thlentu ber a nih avangin.
He natna vei dam rei zawng hi engzat nge ni ang?
McArdle natna hian dam chhung a nghawng lo tlangpui .
Mahse, a tlem hle a, `infantile McArdle syndrome` tih hi a awm a, chu chu pian hnu lawkah a lo lang nghal mai mai a ni. Hei hi thihna thlentu a ni – a natna lan chhuah dan chu a na hle a, a zual nghal vat bawk.
McArdle natna hi ven theih a ni em?
Hei hi genetic condition a nih avangin, a venna tur engmah kan ti thei lo .
Fa i neih hmaa McArdle natna emaw, genetic disorder dang emaw i rochun theihna tur i ngaihtuah a nih chuan, i doctor nen genetic counseling chungchang sawipui a tha ang
Engtikah nge Doctor ka hmuh ang?
I natna lan chhuah dan a na zual a nih chuan, emaw, i taksa tihchak dan pangngai i tih theihna a inthlak chuan doctor pan rawh.
I enkawl dan tur kaihhruaina dil turin physical therapist leh/ emaw nutritionist te pawh i pan fo a ngai thei bawk.
Engtikah nge Emergency Treatment Unit (ETU) ah i kal ang ?
`rhabdomyolysis` symptoms i neih chuan emergency room (ETU) ah a rang thei ang bera kal tur a ni . A lan chhuah dan chu:
- Muscle a hring chhuak
- Muscle chak lohna
- Muscle khawih hian na leh natna
- Zun dum (brown, red, tea rawng) .
- Tui tlakchhamna (dehydration).
- Zun a tlahniam
- Luhai
- Thil hriatna hloh
McArdle natna hian taksa tihchakna thenkhat tih a ti harsa thei hle. Mahse chanchin lawmawm tak chu,Manageable a ni a, i hriselna zawng zawngah nghawng lian tham a nei lo. I doctor chuan i tan enkawlna tur tha ber zawng turin a thawkpui ang che.
Take-Home Thuchah a ni
Okay, chuvangin kan sawi tawh tlemte i tana pawimawh nia kan hriatte kha han hriat nawn tir ila:
McArdle natna hi genetic condition a ni a, chu chu taksa ruhte chakna siam chhuahna tura puitu enzyme tlakchham vang a ni.
A lan chhuah dan ber chu hah thuai, taksa ruh na, exercise i tih laiin a rolling over te hi a ni.
`rhabdomyolysis` an tih complication lian tak chu hre reng ang che. Heng symptoms te hi i neih chuan doctor pan nghal tur a ni.
Hei hi damdawi bik awm lo mah se, uluk taka enkawl theih a ni a, exercise leh ei leh in \ha tak hmanga nun pangngai neih theih a ni.
Hemi chungchanga zawhna dang i neih chuan doctor nen inbiakna neih hreh suh.
Nangmah chauh i ni lo tih hre reng ang che. Hriatna dik leh ṭanpuina i neih chuan he dinhmun hi i tuar chhuak thei a ni.
` McArdle natna, GSD5, McArdle natna, Taksa natna, Exercise, Genetic Disease, Glycogen, Myophosphorylase, Rhabdomyolysis, Exercise Intolerance
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