Charcot-Marie-Tooth Disease (CMT) hi eng nge ni? A awlsam zawngin sawi ila!

A chang chuan i ke ruhte chu a hring deuh emaw, i taksa ruhte chu a chak lo deuh emaw niin i hria em? I kal laiin i ke a inzawm khawm mai thei, a nih loh leh i ke pianzia a danglam deuh niin i hria em? Heng thilte chhan pakhat chu Charcot-Marie-Tooth Disease (CMT) , vawiin hian kan sawi dawn a ni. He hming hi a mak deuhin a lang thei a, mahse a chanchin hriat a pawimawh hle.

Chuti a nih chuan, he Shako-Marie-Tooth (CMT) hi eng nge ni?

A awlsam zawngin sawi ila, CMT hi kan taksa ruh (muscles) thununtu nerve-te nghawngtu a ni. A chhan ber chu genetic mutation vang a ni. Chumi awmzia chu he gene hi i nu emaw, i pa emaw, an pahnih emaw hnen atangin i rochun thei tihna a ni.

CMT hi genetic peripheral neuropathy natna langsar ber pawl a ni a . "Peripheral nerves" tih hian kan thluak leh kan ruhro (chu chu central nervous system) atanga nerve chhuak zawng zawng a kawk a ni. Heng nerve te hi kan ram khawpui lian atanga hmun hla tak tak panna kawngpui ang mai a ni. Heng nerve te hi kan taksa peng hrang hrang, kut zungtang leh taksa peng hrang hranga hriatna thlentu an ni.

He natna hian tute nge a tuar ber?

He CMT an tih hian hnam leh chi hrang hrang a nghawng thei a ni. Hmeichhia leh mipa pawh a nghawng vek a ni. Mahse, khawvel pumah natna tlemte anga ngaih a ni. Zirchianna chuan khawvel pumah mi maktaduai khat velin he natna hi an vei tih a tarlang.

Engtin nge CMT hian kan taksa a nghawng?

Chu chu hriatthiam nân, kan nerve cell, a nih loh leh neurons -te chungchâng tlem kan hriat hmasak a ngai a ni. Neurons te hi kan taksa chhunga thu hriatna kengtu palai te te ang mai an ni.

Neurons chungchang tlem tal

Neuron tin hian a peng lian engemaw zat a nei a:

• Cell taksa: Hei hi neuron control center ber ang a ni.
• Axon: Hei hi cell taksa atanga chhuak, kut ang maia sei tak a ni. Electric wire ang maiin han ngaihtuah teh. Hei hi electrical signal kalna hmun a ni. Axon tawp lamah chuan kut zungtang ang chi thil te tak te, synapses an tih te a awm a. Heng synapse te hian electrical signal te chu chemical signal ah an chantir a, a bul hnaia neuron dangte hnenah information an pe chhuak thin.
• Dendrites: Hengte hi cell taksa atanga inzar pharh, branch ang chi te tak te an ni. Thing hnah ang maia an lan avangin chutianga hming an vuah a ni. Heng dendrite te hian neuron dang atanga chemical signal an dawng thin.
• Myelin: Hei hi neuron tam zawk axons hualtu protective fatty sheath a ni. Electric wire vel plastic khuh ang mai a ni. He myelin sheath hian signal te chu axon zawhin rang takin a kal thei a ni.

Tunah chuan CMT natnaah chuan heng neurons te hi kawng lian pahnih in an tichhe ta a ni.

1. Myelin hloh: 1.1.CMT hian a chang chuan he myelin sheath hi a tichhia thei bawk. A nih loh leh myelin hi a tir lamah a lo piang tha lo thei bawk. Mahse, hei hian nerve signal kal chakna chu a ti hniam a ni. Wire pakhat, plastic chhe tawh, leaking current khuh ang mai a ni.

2. Axon problems: CMT avanga axons te chu a tlem emaw, a chak lo emaw tan chuan chu neuron kal tlanga signal kal chakna chu a tlahniam thin.

CMT chi thenkhatah chuan nerve signals speed hi tlem chauh a tlahniam a, mahse chu chu symptoms siam nan a tawk. Mahse buaina chu myelin nge axon a ni tih chiang taka sawi a harsa hle. Mithiamte chuan hengte hi "intermediate" type an ti a.

Kan taksaa neuron zawng zawng hi a sei zawng leh a lian zawng a inang vek lo. Kan ruhro atanga kan ke leh ke thlenga kal neuron sei ber berte hi CMT ah hian a nghawng hmasa ber a ni . Kut leh kut pawh a nghawng thei a, mahse hei hi a tlangpuiin natna hi a tir lamah a thleng ngai lo.

CMT natna lan chhuah dan chu engte nge ni?

CMT natna lan chhuahna hi tleirawl lai atanga tan a ni tlangpui a, kum sawm emaw kum sawm leh pahnih emaw vel a ni . Mahse, a hma deuh emaw, naupan lai emaw, kum chanve vel emaw a\angin an \an thei a ni. A symptoms hi a lang zauh zauh a, hun kal zelah a pung zauh zauh bawk.

CMT-ah hian symptom chi hnih a awm a, chu chu eng nerve signal nge a nghawng dan a zirin a ni. Heng signal te hi motor leh sensory an ti a .

• Motor signals: Hei hi kan thluak atanga kan taksa ruh (muscle) thlenga kal signal a ni. Heng signal te hian kan taksa ruh te chu "helai leh khawiah pawh kal" turin a hrilh thin. Chuvangin, heng motor signals transmission-ah hian harsatna a awm chuan kan taksa ruh (muscle) te hi kan thunun tha thei lo. A bik takin kan taksa peng hrang hrangah.
• Muscle chak lohna.
• Paralysis ang chi condition pawh a ni mai thei .
• Muscle atrophy chu taksa peng hrang hrang tihtlem a ni .
• Reflexes tlahniam emaw hloh emaw.
• Entîr nân, ke ruh tichhe thei, hammertoes .
• Foot drop , chu chu ke kephah chawi thei lo va, hnuai lam hawia tlak tir emaw, ke arch sang lutuk emaw tihna a ni.
• Kal dan inthlak danglam ( gait disorders ) avanga tlu leh tlu fo thin.
• Ankle sprain fo thin .
• Thâwk harsa (hei hi natna khirh takah chauh hmuh theih a ni).

• Sensory signals: Hei hi kan taksa peng hrang hrang atanga thluaka kalna signal a ni. Heng signal te hian thluak hnenah, "Hei hi hetiang hian a awm," tiin a hrilh a. Chuvangin, heng sensory signals-a harsatna a awm hian kan ke hnuai lam, ke leh kut hnuai lam sensation-ah inthlak danglamna kan nei thin.
• Numbness emaw tingling emaw a awm .
• Ke hnuai lam, ke hnuai lam emaw, kutphah emawa lumna emaw, natna emaw hriatna hloh .
• Ka ke bulah chuan thil pakhat a rawn inher chhuak ang maia hriatna.
• Natna rei tak a awm .
• Sens dang, a bik takin mit leh hriatna lama hriatna tlahniam emaw, hloh emaw (hengte hi a tam vak lo, CMT subtype thenkhatah chauh hmuh tur a awm).

Eng thilin nge CMT hi a thlen?

Kan taksa chhunga nerve cell tin hian DNA an tih hi an nei vek a . He DNA hi instruction book ang mai a ni. He DNA hian cell te chu an hna dik tak thawk turin thupek a pe a ni. Genetic mutation hi he DNA instruction book-a lehkha pakhata tihsual ang mai a ni. Kan cell te hian he DNA-a thupek awmte hi an zawm chiang hle. Chuvangin, chutiang mutations avang chuan cell te chu an thawk dik lo tan thin. Chutiang chuan CMT chu a lo thanglian thin.

CMT hi gene pakhata mutations vang emaw, gene hrang hranga mutations vang emaw a ni thei. Tunah chuan zirchiangtute chuan CMT chi hrang hrang thlentu genetic mutations tam tak an hmuchhuak tawh a ni.

DNA mutation i neih theihna tur kawng lian pahnih a awm a, chungte chu:

• Inherited: Heng DNA mutations te hi i nu emaw, i pa emaw, an pahnih atang emaw hian i hmu thin.
• Spontaneous: Heng mutations te hi i nu pum chhunga nausen anga i lo thanglian lai hian a thleng thin. Hengte hi "de novo" mutations an ti \hin a, chu chu "thar" tihna a ni.

CMT chi hrang hrang a awm em?

Ni e, CMT hi chi hrang hrang pasarih a awm. Amaherawhchu, CMT type 1 (CMT1) leh CMT type 2 (CMT2) te hi a tam ber a ni. A chi dangte chu a tlem zawk hle.

• CMT type 1 (CMT1): Hetiang chi hian myelin a nghawng a, chuvangin signal te chu a kal zawi zawi a. Kum 10 leh 40 inkar velah hian natna lan chhuah dan a lang tlangpui a, mahse mi thenkhat chu kum sawm tam tak chhung chu natna lanchhuahna nei lovin an awm thei. Hei hi CMT chi khat hman tlanglawn ber a ni. CMT2 aiin a let hnih velin a tam zawk.
• CMT2: Hetiang chi hian axons a nghawng a. Nerve signal a chak lo va, a kal slow deuh thei bawk. CMT vei hmun thuma ṭhena hmun khat vel chu hetiang chiah hian an tla a ni.

Hei bakah hian CMT chi dang pawh a awm a:

• CMT3 ( Dejerine-Sottas natna an ti bawk ).
• CMT X-a inzawm (CMTX) a ni.
• A rilru a buai em em a, a rilru a hah em em bawk a. Dominant Intermediate CMT (CMTDI).
• Recessive intermediate CMT (CMTRI) hmanga siam a ni.

Hei hi natna hrik kai theih a ni em?

Ni lo, CMT hi natna hrik kai theih a ni lo. Mi pakhat atanga mi dangah a darh thei lo.

Engtin nge CMT natna hi dik taka hriat theih?

CMT chi i neih leh a nasat zia chiang taka hriat theih nan doctor chuan kawng hrang hrang a hmang tlangpui a, chutah chuan taksa leh thluak enfiahna pawh a tel a ni ., laboratory test, imaging test, leh diagnostic test dangte pawh a awm bawk. Doctor chuan i chhungkaw medical history te, i symptoms te, leh nunphung te pawh a zawt bawk ang.

Hemi atan hian eng ang test nge tih thin?

CMT i vei nia i rinhlelh chuan heng test te hi i neih a rinawm zawk:

• Electromyogram (EMG) , a bik takin nerve conduction test , hian i nerve-in signal a conduct rang leh chak loh a teh thin.
• Genetic testing: Hei hian CMT thlentu genetic mutations a awm leh awm loh a hriat theih.
• Spinal tap / lumbar puncture: Hei hi cerebrospinal fluid enfiah nan hman a ni. Hei hi mi zawng zawng tan tih a ni lo.
• Magnetic Resonance Imaging (MRI) hmanga thil tih a ni .
• Ultrasound hmanga enfiah a ni.
• Evoked potential tests: Hei hian CMT subtype a awm em tih hriat nan a pui a, a bik takin hriatna leh hmuhna tichhe thei te hi a ni.
• Nerve biopsy: Hei hi tih a tam vak lo. Nerve atanga tissue te tak te lak a, enfiah a ni.

CMT enkawlna tur engte nge ni? A dam kim thei ang em?

Dik tak chuan tun dinhmunah hian CMT tihdam kim theihna tur emaw, natna hi direct-a enkawl theihna tur emaw a awm lo . Mahse, he natna lan chhuah dan leh a nghawng dan hi a tlangpuiin enkawl theih a ni.

Eng ang damdawi/enkawlna nge hman?

CMT enkawlna atana hman tlanglawn berte chu:

• Physical therapy leh occupational therapy: Hengte hian i taksa ruh a tichak thei a, i balance a tichak thei a, nitin hna a ti awlsam thei bawk.
• Mobility aids te chu ke brace, walker , leh wheelchair te hi a ni.
• Kekawr pianzia inthlak danglamna nena inmil thei kekawr bik.
• Kut, ke, hip, emaw hnungzang pianzia inthlak danglamna siamthatna tur surgery .
• Symptom thenkhat tan damdawi , a bik takin natna rei tak.

CMT enkawlna dang pawh a awm a, mahse natna subtype bik a zirin a danglam thei. I doctor chuan eng enkawlna nge i tâna ṭangkai ber ang tih chu a hrilh thei ber che a, chu chu i dinhmun leh i mamawh bîk angin thu hriatte chu a siam rem thei a ni.

I doctor chuan enkawlna hrang hrang hmanga side effect leh complication awm thei te, i dam leh theih nan leh nun pangngaia i lo kir leh theih nan eng chen nge a rei dawn tih te pawh a hrilh belh ang che.

CMT nena i awm hian eng nge i beisei theih ang? Nakin hun chu eng nge ni?

A tlangpuiin CMT hi a hlauhawm vak lo.. Mahse natna subtype na zawk thenkhat chu nunna atana hlauhawm tak an ni thei. CMT vei tam tak chuan kea kal, che, emaw, hriatna engemaw zat an neih loh avangin harsatna an nei thin. Mahse hengte hian an dam chhung a ti tawi tlem hle. Special assistive devices, a bik takin ke leh kekawrte brace emaw pheikhawk emaw hmang hian CMT vei tam tak chu nun pangngaiin an nung thei a, nun hlim tak, hlim takin an hmang thei a ni.

CMT hmang pawhin nun tha tak i hmang thei tih hre reng ang che. I mamawh chu damdawi lam thurawn leh puihna dik tak a ni.

Natna chi hrang hrangah chuan a hlauhawm ber chu thawk leh ei leh in thununtu ruh chak lohna hi a ni. Hei hian thawk lama harsatna , pneumonia, leh nunna atana hlauhawm tak tak thlengin a thlen thei a ni. Heng natna khirh tak takte hi CMT symptoms hi naupan lai atanga tan a nih chuan a lo awm tam zawk a, a bik takin naupan lai atanga lo chhuak a ni.

CMT hian eng chen nge a daih?

CMT hi a awm reng a, dam chhung zawnga awm thei a ni . I piang chhuak a, mahse mi tam zawk chuan puitling an nih hma chuan symptoms an nei lo. Tunah hian damdawi a la awm lo a, a mah chauhin a dam lo.

CMT lo thang zel tur ven dan tur a awm em?

Shaklo-Marie-Tooth natna hi i rochun emaw, beisei loh taka lo awm emaw a ni. Chuvangin, a vei theihna tur leh a vei theihna tur tihtlem dan tur a awm lo .

CMT hi ven theih ni lo mah se, genetic test leh counselling hmangin i fate chu an vei theihna tur hlauhawm an nih leh nih loh hriat theih nan a pui thei che a ni. Hemi chungchang hi i doctor emaw, genetic counselor emaw chuan a hrilh belh thei che a ni.

CMT vei mi pakhatin nau a pai chuan eng nge thleng?

CMT vei tam zawk chuan fa an nei thei. Mahse, harsatna thenkhat chu a awm thei a, a awm tam zawk bawk. CMT vei naupai tam tak chuan naupai emaw nau neih lai emaw hian enkawlna dang an mamawh thei a ni. Tin, nau neih hnua thisen chhuah theihna chance tlem an nei bawk.

I doctor chuan hei hi i tan a hman theih leh theih loh leh i tih theih dan tur a hrilh belh ang che. Specialist-te hnenah an refer thei che a, a bik takin nu leh nausen damdawi lam doctor, naupai harsa tak takah specialist-te hnenah an refer thei che a ni.

Engtin nge ka in enkawl ang a, ka symptoms te hi ka enkawl ang?

CMT i neih chuan i doctor hi i in enkawl dan tur leh he natna hi i enkawl theih nan eng nge i tih theih leh tih tur tih hriatna tha ber a ni. I dinhmun kal zel dan an enfiah thei a, i tanpui thei tur enkawlna emaw, strategy emaw an rawn rawt thei bawk.

A tlangpuiin heng thilte hi i ti tur a ni:

• A rawtna angin doctor hmu rawh. Hei hi a pawimawh hle a, a chhan chu i doctor hian i dinhmun a kal zel dan leh a nghawng dan che a hmu thei a ni. I enkawlna ruahmanna chu an thlak danglam thei a, a nih loh leh i ṭanpui thei thilte rawtna an siam thei bawk.
• I enkawl dan tur ruahmanna dik takin zawm rawh. Hei hian i damdawi ei tur leh i damdawi hmanraw i doctor-in a tih angin i hmang tihna a ni. Hengte hi a pawimawh hle a, i natna lan chhuah dan atanga hahdamna i hmuh theih nan emaw, natna lan chhuah dan thenkhat a nasat dan tur a ti hniam thei bawk.
• Damdawi emaw, nervous system tichhe thei thil (neurotoxic substances) ei loh tur. Hengte hi i nervous system tichhe thei thil a ni. I doctor chuan zu in khap emaw, in loh vek emaw turin a hrilh mai thei che. A chhan chu zu in tam lutuk hian nervous system a tichhe thei bawk.

Engtikah nge doctor i hmuh ang? Engtikah nge emergency treatment a ngai?

I doctor chuan i dinhmun leh i natna lan chhuah dan enfiah turin follow-up visit neih hun tur a ruahman ang. Tin, i natna lan chhuah danah danglamna i hmuh chuan, a bik takin i hnathawh dan pangngai a tibuai a nih chuan doctor i pan tur a ni.

Engtikah nge damdawi in (ETU) ah emergency treatment i pan ang?

CMT vei tam zawk chuan emergency treatment an mamawh lo a, an ke ruh control harsat leh tlu an neih loh chuan. I tlu a nih chuan i lu , i kawr, a nih loh leh i hnungzang hliam hlauhawm a awm chuan damdawi lam pan tur a ni. Hei hi a chhan chu CMT hian i central nervous system hmun eng emaw a chhiat chuan harsatna lian tak a thlen thei a ni.

Zawhna tenau tlemte dang...

Shaklo-Marie-Tooth natna hi Multiple Sclerosis (MS) nen hian natna chi khat a ni em?

No. Multiple sclerosis (MS) hi thluak leh ruhro chhunga neurons vel a myelin sheath chu a lo hring chhuak thin a ni. CMT chi thenkhatah chuan symptom inang an nei a, mahse chutiang tih loh chu an pahnih hian an dinhmun a inang lo hle.

CMT hi autoimmune natna a ni em?

Ni lo, CMT hi autoimmune natna a ni lo. Mahse, CMT thlentu fo thin PMP22 gene-a mutations thenkhat chuan autoimmune natna thenkhat vei theihna a tipung thei a ni.

CMT natna hian thluak a nghawng em?

A tlangpuiin CMT hian thluak hi direct-in a nghawng lo . CMT hian neuron sei tak tak leh nerve fiber te a nghawng tam ber. Hengte hi thluak-ah ni lovin, ruhro leh peripheral nerve-ah te hmuh tur a awm. CMT subtype thenkhat hian thluak structure-ah inthlak danglamna tenau tak tak a thlen thei a, mahse mithiamte chuan hei hian thluak hnathawhnaah nghawng lian tham, ngaihtuahawm tak a nei tih an la hmu lo.

Kan sawiho tawh a\anga hriat reng tur pawimawh ber berte (Take-Home Message) .

Chaucer-Marie-Tooth disease (CMT) hi i thluak leh i ruhro inzawmkhawmtu nerve network, i peripheral nervous system tichhe thei natna chi khat a ni. He natna hian i taksa ruh chetna leh i chhehvel khawvel i hriat dan leh i hmuh dan a nghawng ber a ni. Hetiang natna vei tam tak hian assistive device emaw appliances emaw an mamawh a ni. Ṭhenkhat chuan operation emaw, physical therapy emaw occupational therapy ang chi thil emaw an mamawh a ni.

Mahse, CMT hi a tlangpuiin thil hlauhawm leh nunna atana hlauhawm a ni lo. A vei tam zawk chu dam chhung pangngaiin an hmang a, nun hlim tak, hlim tak an hmang bawk. A pawimawh ber chu nangmah chauh i ni lo tih leh he dinhmun hi hlawhtling taka nunpui turin tanpuina i dawng thei tih hriat reng hi a ni. Hemi chungchangah hian zawhna emaw, ngaihtuahna emaw i neih chuan doctor nen inbia ngei ang che.

` Shako-Marie-Tooth, CMT, Thluak lam natna, Genetic natna, Taksa chak lohna, Peripheral neuropathy, Neurons