Nangmah emaw, i fa emaw taksa chu a slow em? Nemaline Myopathy a ni thei ang em?

A chang chuan i taksa chu a chak lo hle niin i hria em, a nih loh leh i fate hian naupang dangte aiin thil a ti tlai deuh emaw, chakna tlachham ang maiin emaw i inhria em? Heng thilte hi chhan hrang hrang avangin a thleng thei a ni. Amaherawhchu, vawiinah hian kan sawi dawn a, thil awmdan hmuh tur awm lo mahse pawimawh tak, fimkhur a pawimawh hle. Chu chu Nemaline Myopathy an tih natna a ni .

Nemaline Myopathy hi eng nge ni?

A awlsam zawngin, Nemaline Myopathy hi kan taksa chetna tura puitu ruh ( skeletal muscles tia hriat bawk) te a nghawng a ni. Hei hian taksa peng hrang hrangah thau (muscle weakness ) (myopathy) a thlen thin. Heng symptoms te hi a chang chuan nau piang lai te, emaw naupan lai te pawh a awm thei a, puitling ah pawh a awm tlem hle bawk. He taksa chak lohna hian a nghawng tam ber chu:

• I hmaiah chuan
• A kawr thlengin
• Hip area lam pan chuan
• A kekawrte thlengin
• Kut leh ke chunglam tan

He nemaline myopathy-ah hian thil danglam tak a awm bawk. Chu chu, taksa ruhte kan enfiah hian ( biopsy kan ti a ), taksa ruh chhungah hian thread ang chi, thingpui te ang chi thil te tak te (hei hi nemaline bodies an ti) kan hmu tihna a ni. Greek tawng "nema" tih hian "thread ang chi" tihna a ni bawk. Chuvangin chutiang chuan he natna hian a hming a pu ta a ni. Hming dangin an ko bawk a, i hre tawh mai thei:

• Congenital rod natna a ni
• Nemaline taksa natna
• Rod myopathy a ni

Nemaline myopathy vei tam zawk hi an nu leh pate hnen atanga an rochun genetic mutation neia piang an ni . Mahse, a tlem hle a, chhungkaw history nei lovin he natna hi a lo awm thei a, random gene mutation vang pawh a ni thei.

A pawimawh ber chu nemaline myopathy damdawi a awm lo . Mahse, natna lan chhuah dan thunun thei leh nun ti awlsam thei tur enkawlna chi hrang hrang a awm. Nemaline myopathy chi khat nei tam berte hian nun pangngai, active takin an hmang thei fo thin.

Nemaline Myopathy chi hrang hrang a awm em?

Ni e, nemaline myopathy hi chi hrang hrang paruk a awm a. Natna lan chhuah hun leh natna nasat dan hi a chi hrang hrang a zirin a inang lo. 1. Typical congenital nemaline myopathy: Hei hi a tam ber a ni . Nemaline myopathy vei zawng zawng zinga a chanve vel chu he chi hi an ni. Hei hi pian tirh atanga awm thin condition a ni. 2. Nemaline myopathy pianpui inkar : 1.1.Hetiang chi-ah hian natna lan chhuah dan hi a nasat zawk aiin a na lo zawk a, mahse a chi pangngai aiin a na zawk. Damlo 20% velin he chi hi an nei a ni. 3. Severe congenital (neonatal) nemaline myopathy : Hei hi natna khirh tak a ni a, nau piang lai pawhin a awm thin . Damlo 16% velin he chi hi an nei a ni. 4. Childhood- onset nemaline myopathy: Hetiang chi hi kum 10 leh 20 inkar ah a lang a, damlo 10% aia tlem chuan he chi hi an nei a ni. 5. Adult-onset nemaline myopathy : He natna hi kum 20 leh 50 inkar vel a ni a, damlo 4% velin he chi hi an nei a ni. 6. Amish nemaline myopathy : Hei hi Amish community zingah hmuh tur chi bik a ni. A tlem hle a, naupan laia thihna thlen thei a ni.

He natna hi tuin nge nei thei ang?

Nemaline myopathy hian tu pawh a nghawng thei a, mipa leh hmeichhia, hnam leh sakhaw hrang hrang thliar lovin. Mahse, i nu leh pa pakhat emaw, pahnih emaw chuan natna thlentu gene mutation an keng tel a nih chuan, i hlauhawmna a sang zawk . Amish community-a mite pawh an hlauhawm zawk. Natna hmuh tur awm lo tak a ni . Zirchiangtute chuan he natna hi nau piang nung 50,000 zinga pakhat velah a awm niin an sawi. Mahse, Amish community-ah chuan mi 500 zinga pakhat chu he natna hian a vei thei niin an sawi.

Nemaline Myopathy hi engte nge ni?

Nemaline myopathy hi kan ruh leh taksa peng hrang hranga natna a ni a . Gene inthlak danglamna avanga lo awm a ni fo thin a, chu chu gene mutations an ti a ni. Heng gene mutations te hi nu leh pa pakhat emaw, nu leh pa pahnih emaw atanga rochun theih a ni.

• A châng chuan, nu leh pa pahnih hian gene danglam tak (i.e., autosomal recessive trait anga inherited a nih) an keng tel a nih chuan he dinhmun hi a thleng thei a ni.
• A tlem berah chuan nu leh pa pakhat chauhvin gene danglam tak (chu chu autosomal dominant trait angin) rochun mah se, a lo awm thei a ni.
• A châng chuan, he dinhmun hi sperm emaw egg emaw-a random genetic mutation thar, random aṭanga lo awm pawh a ni thei bawk.

Hei hi gene Nebulin (NEB) emaw, gene Actin alpha-1 (ACTA1) emaw a inthlak danglamna avanga lo awm a ni fo thin. Nebulin leh actin hi protein chi hnih a ni a, kan taksa ruhte hi a inzawm khawm thei a ni. Machine peng hrang hrang angin ngaihtuah rawh. Heng hmun hrang hranga harsatna a awm chuan taksa ruhte hian hna a thawk tha tawh lo.

He natna lan chhuah dan engte nge ni?

Nemaline myopathy natna lan chhuah dan tlangpui chu:

• Decreased muscle tone (Hypotonia) : Taksa chak lohna, rubber ball ang maia awm.
• Reflexes tlahniam emaw hloh emaw: Doctor-in khup chu hammer te tak te hmanga a tap chuan ke a che thei lo.
• Muscle chak lohna: Taksa chak lohna hriatna .

I naute piang thar hian heng symptoms te hi a lantir chuan thil dang pawh i hmu thei bawk ang:

• Ka kal dan pangngai lo (gait disorder) .
• Motor thiamna tihkhawtlai: Thut, ding, leh lu thunun ang chi thila tihkhawtlai.
• Thusawi leh ei harsa (dysarthria leh dysphagia) .
• Jaw area chu a pangngai aia hnung lamah a awm (retrognathia) .
• Hmai sei tak ang maia insiam .
• Kawngkhar chunglam chu a curvature pangngai lo .
• Thusawi thiam lo (velopharyngeal dysfunction) .
• Mut laiin thawk chak lo (nocturnal hypoventilation) , hei hian thisenah carbon dioxide level a tisang thei (hypercarbia) .
• Thâwk harsa (dyspnea) .

Hetiang natna vei te hian an upat deuh deuh chuan symptom dang an nei thei :

• A rilru a buai em em a .
• Scoliosis natna a ni .
• Joint contractures te pawh a awm .
• A rilru a pil (pectus excavatum) .

He natna hi engtin nge an hriat chhuah?

A hmasain, doctor chuan nangmah emaw, i fa emaw chu i natna lan chhuah dan leh i chhungte zingah tu emaw pawhin hetiang natna hi an nei tawh em tih a zawt ang. Tichuan, taksa enfiahna an nei ang. Doctor chuan nemaline myopathy a rinhlelh chuan muscle biopsy a ti ang . Hei hian operation laiin muscle tissue te tak te chu lakchhuah a, enfiah a huam a ni. Nangmah emaw i fa emaw hian he natna hi i neih chuan chu taksa ruh chhungah chuan thread ang chi (nemaline bodies) te chu i hmu ang. Doctor hian genetic testing pawh a ti dawn a ni .A rawt theih bawk. Hei hian nemaline myopathy dinhmun a nemnghet thei a ni.

Engtin nge enkawl a nih?

Sawi tawh ang khan hei hi damdawi bik a awm lo. Chuvangin, enkawlna hian natna lan chhuah dan tihtlem leh nun awlsam zawka puih a tum a ni . Enkawlna atan hian:

• Thâwk lama harsatna nei tanpui: Hei hian tracheostomy dah te, mechanical ventilation machine nena inzawm te, BiPAP machine hman te a huam thei.
• Low-impact exercise: Taksa chakna vawng reng tur.
• Massage therapy leh physical therapy : Taksa hnathawh dan vawng reng tur.
• Speech therapy : Thusawi harsatna leh bengchheng tihziaawmna.
• Stretching techniques : Taksa chakna tihpun.
• Kalna atana hmanrua: Tiang, kekawrte, khup hruihrual, leh wheelchair ang chi thil.

Symptoms a nasat chuan, emaw, hriselna lama harsatna dang a awm chuan damdawi inah dah a ngai mai thei . Damdawi ina dah hian a hnuaia enkawlnate hi a pe thei a ni:

• Respiratory support: Mut laiin thawk chhuahna tur mechanical ventilation ang chi.
• Surgery : Joint contracture emaw scoliosis emaw enkawl tur .
• Enteral nutrition : Chaw ei harsatna i neih chuan.

He risk hi tihziaawm theih a ni em?

Dik tak chuan nangmah emaw i fa emaw pawhin nemaline myopathy an vei loh nan kawng a awm lo. Mahse, a natna lan chhuah dan hriat a pawimawh hle a, doctor thurawn lak hmasak a pawimawh hle a, a tul chuan enkawl tan a pawimawh hle bawk .

Hetiang dinhmun nei hian eng ang hmalam hun nge a beisei theih ang?

Hei hi natna chi hrang hrang a zirin a danglam nasa tak zet a ni .

• Typical congenital nemaline myopathy: Muscle chak lohna hi hun kal zelah a awm reng tlangpui. Mahse, i upat deuh deuh chuan a chak lohna chu i than chhoh zel chuan a pung deuh thei a ni.
• Congenital (neonatal) nemaline myopathy na tak : Hei hian harsatna a thlen thei . Entir nan:
• Joint tam tak chu bent emaw extended position-ah a innghat (Arthrogryposis multiplex congenita) .
• Chaw emaw tui emaw inhnim luhAspiration pneumonia a ni a .
• Fractures a awm.
• Lung ruh natna (Cardiomyopathy) .
• Thluak lama harsatna nei .
• Intermediate congenital nemaline myopathy: Mi tam tak chuan thawk lama tanpuina leh wheelchair an mamawh mai thei.
• Childhood-onset nemaline myopathy: Hei hian ke a ti tla thei a, chu chu ke ke ruh chunglam ben theih lohna a ni. Tin, ke ruh leh ke hnuai lam ruh chetna hloh a thlen thei bawk.
• Puitling atanga lo chhuak nemaline myopathy : Hei hian harsatna a thlen thei bawk :
• Thâwk harsa.
• Kawng ruh chak lo vangin lu ding nghet taka vawn harsa.
• Lung natna avanga harsatna awm thei.
• Zawi zawiin taksa chak lohna a tipung.
• Amish nemaline myopathy : Hetiang dinhmunah hian harsatna awm thei chu taksa ruh chak lohna, thawk lama harsatna, leh taksa ruh atrophy te a ni.

Chuvângin, nakin hun chungchâng erawh chu, natna chi leh a lan chhuahna nasat dânah a innghat a ni . Natna chi hrang hrang (typical congenital nemaline myopathy) nei mi pakhat chu engmah puihna tel lovin a kal thei mai thei. Mahse, a natna khirh ber (Amish nemaline myopathy) nei te chu kum hnih vel an dam fo thin.

Mahse, lungngai suh. Damdawi awm lo mah se, enkawl ṭhat chuan nemaline myopathy vei tam tak chu dam rei thei an ni . Natna chi hrang hrang a zirin dam rei zawng hi thla engemaw zat atanga dam chhung zawng a ni thei.

Hetiang dinhmun hi an vei a nih chuan engtin nge nangmah emaw, i fate emaw i enkawl ang?

He natna avanga harsatna awmte tihziaawmna tur hian a hnuaia mi ang hian i pui thei ang:

• I thinlung hnathawh dan enfiah fo thin ang che.
• Thluak lam natna (e.g. bronchitis , rilru natna, pneumonia ) i neih chuan doctor thurawn leh enkawlna zawng nghal rawh.

He natna gene carrier i nih a, fa neih i beisei bawk a nih chuan genetic counselor nen inhmukhawmin thurawn dil a tha

Thuhmahruai angin hre reng ang che

Nemaline Myopathy (NM) hi natna hlauhawm tak a ni a, ruh ruh (skeletal muscles) a nghawng a ni. A lan chhuah dan ber chu taksa ruh (muscle tone) tlahniam leh taksa chak lohna a ni. He natna hi chi hrang hrang a awm a, a lan chhuah dan leh a nasat dan a inang lo vek. Damdawi bik awm lo mah se, a natna lan chhuah dan tihziaawmna tur enkawlna a awm.. Mi tam zawk chu a chi khat (typical congenital nemaline myopathy) nei tam zawk chuan enkawlna dik tak nen mahni inrintawkna neiin an nung thei a ni. Chi dangte tan chuan a natna lan chhuah dan a zirin prognosis a inang lo. Chuvangin, damdawi lam thurawn zawm a, enkawlna dik tak neih a pawimawh hle . Nemaline Myopathy, Muscle Weakness, Genetic Diseases, Naupang natna, Neuromuscular Diseases, Thâwk lama harsatna, Muscle Biopsy