Exercise tlem hnuah pawh taksa ruh natna i nei em? Hei hi McArdle Disease a ni thei!

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.