Ib pawg neeg dav dav ntawm cov kab mob sib kis ntawm cov kab mob hauv lub paj hlwb, uas tau txais, yog cov kab mob neuromuscular. Myotonia yog ib hom kab mob zoo li no. Tus kab mob no yog sawv cev los ntawm ntau yam syndromes. Kev ua haujlwm ntawm ion channel ntawm chlorine thiab sodium hloov. Muaj kev nce hauv excitability ntawm daim nyias nyias nyob rau hauv cov nqaij fibers. Tone teeb meem thiab mus tas li lossis ib ntus cov leeg tsis muaj zog tuaj yeem pom. Kab lus no yuav tham txog Thomsen's myotonia.
Type of myotonic syndromes
Myotonic syndromes tuaj yeem ua dystrophic thiab tsis yog dystrophic. Thawj pab pawg muaj cov kab mob tseem ceeb, cov duab kho mob uas muaj peb tus mob ua ntej:
- myotonic;
- dystrophic;
- vegetative-trophic.
Daim ntawv dystrophic yog nrog los ntawm kev ncua sij hawm so ntawm cov leeg tom qab lawv qhov nro, ua rau cov leeg tsis muaj zog thiab dystrophy (atrophy) ntawm cov leeg pob txha.
Kev piav qhia tus kab mob
Myotonia Thomsen (Leiden - Thomsen) yog kab mob caj ces uas cuam tshuam rau cov leeg nqaij striated. Qhov pib ntawm tonic nqaij spasms tshwm sim thaum kawg ntawm kev ua haujlwm hnyav, kev txawj tsav tsheb tsis zoo.
Tus kab mob no muaj autosomal yam tseem ceeb ntawm cov qub txeeg qub teg, uas yog qhov tsawg heev: raws li kev txheeb cais, Thomsen's myotonia muaj nyob hauv xya tus neeg ib lab. Cov tsos mob ntawm thawj cov tsos mob ntawm tus kab mob poob rau ntawm lub hnub nyoog ntawm 8 mus rau 20 xyoo, ces lawv nrog ib tug neeg tag nrho nws lub neej. Cov txiv neej feem ntau yuav raug kev txom nyem los ntawm hom myotonia.
Ua rau kev loj hlob ntawm pathology
Kev hloov pauv ntawm CLCN1 noob ua rau muaj tus kab mob no. Nyob rau hauv etiopathogenesis, myoneural conduction yog cuam tshuam thiab pathology ntawm intracellular daim nyias nyias yog pom, uas yog tshwm sim los ntawm ib tug txo nyob rau hauv cov kev nkag mus ntawm chloride ions mus rau hauv cov nqaij fibers ntawm lub plasmolemma. Qhov tsis xws luag thaum kawg ua rau muaj qhov tsis txaus ntawm ion: chloride ions tsis nkag mus rau hauv, tab sis sau rau ntawm microfibril, ua rau bioelectrical instability hauv cov leeg nqaij.
Thomsen's congenital myotonia tshwm sim li cas?
Nyob rau hauv cov leeg nce acetylcholine - ib qho enzyme uas tswj cov excitability thiab contractility ntawm cov nqaij fibers. Txo kev ua haujlwm hauv cerebrospinal kua thiab ntshav.
ZooCov ntaub so ntswg tsis xws luag yog ib yam rau txawv myotonias. Nrog kev pab los ntawm lub teeb microscopy, hypertrophy ntawm qee cov leeg nqaij tuaj yeem kuaj pom. Nws hem dab tsi? Cov nqaij mos ntawm hom thib ob txo qis, qhov nruab nrab hypertrophy ntawm sarcoplasmic reticulum ntawm cov leeg nqaij tsim, qhov loj ntawm mitochondria nce, telophragm ntawm cov leeg nqaij striated nthuav dav - tag nrho cov no tuaj yeem pom ntawm electron microscopy.
Symptomatics
Nrog Thomsen's myotonia, kev kuaj pom ntawm cov tsos mob sab nraud tsis tshwm sim tam sim tom qab yug me nyuam. Yeej, qhov tshwm sim ntawm thawj cov cim tshwm sim thaum yau thiab hluas.
Qhov peculiarity ntawm myotonic phenomenon yog:
- muscle hypotonia thaum so;
- hypertonicity, spasm ntawm cov leeg nqaij fibers thaum lub sijhawm siv zog;
- ncua sij hawm so ntawm cov leeg tom qab pib txav.
Myotonic tawm tsam tuaj yeem cuam tshuam rau ob txhais ceg, caj npab, lub xub pwg leeg, caj dab, ntsej muag. Lub siab xav kis tus ntiv tes, clenched rau hauv lub nrig, ua ib kauj ruam, kaw lub puab tsaig, kaw lub qhov muag yog nrog rau cov leeg nqaij spasms.
Nrog Thomsen-Becker myotonia, kev loj hlob ntawm lub cev ntawm tus menyuam yog qhov nyuaj yog tias pom thawj cov tsos mob ntawm tus kabmob thaum yau. Tus menyuam tsis tuaj yeem zaum, sawv, taug kev raws sijhawm rau txhua qhov kev ua, nws lub cev tswj tsis tau.
Nrog rau kev yeem txav mus los ntawm lub hnub nyoog tom qab, kev tawm tsam myotonic ntawm cov leeg pob txha tshwm sim lawv tus kheej thaum taug kev, sawv ntawm qhov chaw, tswj kev sib npaug. Thawj lub cev muaj zog hauv tus neeg mob yog nrog los ntawm lub cev nqaij daim tawvspasm, tom qab uas tus neeg yog immobilized. Yog hais tias nws xav sawv, nws yeej yuav tsum tau lean rau ib yam dab tsi. Nws yog thawj kauj ruam uas tau muab nrog kev nyuaj siab, qee zaum tonic spasms ua rau poob ntawm tus neeg mob. Thaum lub siab tshaj plaws, nws yog ib qho nyuaj rau tsis quav ntsej cov ntiv tes uas tau sau rau hauv lub nrig, qhov no tuaj yeem kav ntev txog kaum vib nas this. Nrog rau kev txav mus tom ntej, spasms nres.
Kev ua ub ua no pab txhawb rau qhov tseeb tias cov nqaij ntshiv cuam tshuam hloov mus rau kev txav mus los, spasms tsis pom txhua. Tab sis kev so luv luv ua rau pom cov leeg nqaij hypertonicity nrog tib lub zog. Nrog Thomsen's myotonia, lub tsev kho mob yog tus yam ntxwv.
Nyob rau hauv cov neeg laus, tus neeg mob nrog qhov kev kuaj mob no muaj qhov ua kis las, vim tias tus kab mob cuam tshuam rau cov leeg ntawm cov ceg thiab lub cev thiab, vim lawv qhov tsis tu ncua, cov leeg nqaij loj tuaj. Cov nqaij yog hypertrophied thiab saib loj. Lawv nruj heev txawm tias tsis muaj zog sab nraud stimuli. Txawm tias muaj teeb meem rau cov leeg nqaij, lawv cov hypertonicity tshwm sim. Cov leeg nruj ntawm cov leeg tshwm, uas siv sij hawm los so.
Thaum pib ntawm kev yeem txav mus los, uas yuav tsum muaj kev koom tes ntawm cov leeg mob, thiab thaum lawv raug mob khaub thuas, kev tawm tsam myotonic tau pom. Muaj ntau ntau lwm yam ua rau muaj kev cuam tshuam xws li kev nyob ntev hauv qhov chaw zoo li qub, lub suab nrov nrov, kev xav tawm tsam.
Yuav ua li cas thiaj kuaj tau kab mob?
Kev kuaj mob los ntawm cov paib sab nraud tuaj yeem txiav txim tau yooj yim. Nws yog ib qho tseem ceeb kom ua tib zoo sau ib tsev neeg keeb kwm thiab cov yam ntxwv ntawm kev kho mobkev tshwm sim.
Thaum thawj lub sijhawm teem tseg, tus kws kho mob tshwj xeeb siv rauj rauj. Nrog lub teeb tapping ntawm cov leeg nqaij muaj teeb meem, tus kws kho mob hlwb txiav txim siab lub peev xwm ntawm cov nqaij ntshiv kev cog lus thiab kho lub sij hawm so tom qab cov nyhuv irritating. Yog hais tias ib tug menyuam daim ntawv ntawm qhov chaw ntawm kev sib cuag, qhov no qhia tau hais tias ib tug myotonic cov tsos mob.
Tus kws kho mob caw tus neeg mob los tuav nws tus ntiv tes rau hauv lub nrig thiab sim ua kom tsis huv. Thawj qhov kev txav mus los yuav nyuaj, thiab tom qab ntawd muaj kev ua haujlwm ntawm lub cev muaj zog, uas txhais tau hais tias muaj tonic spasms.
Cov nqaij mos nyob hauv qhov zoo txawm tias thaum so, tendon reflexes qhia cov cim myotonic.
Tonic symptom complex tsis yog rau Thomsen's myotonia nkaus xwb. Nws nrog Eulenburg's paramyotonia, Becker's myotonia, Steiner's myotonia, nrog rau lwm yam kab mob neuromuscular thiab endocrine. Kev sib txawv ntawm kev kuaj mob thiab xaiv ib hom myotonia yog qhov nyuaj rau kev kuaj mob.
Kev kuaj kab mob
Yog li, nrog Thomsen's myotonia, kev kuaj mob yog raws li hauv qab no. Nws raug nquahu kom sau cov tshuaj tiv thaiv kab mob thiab kuaj:
- Ib leeg nqaij ntshiv los nthuav qhia cov kev hloov pauv hauv cov fibers uas ua rau cov leeg nqaij tsis ua haujlwm.
- Biochemical tsom xam ntshav. Tsis muaj cov cim tshwj xeeb biochemical rau tus kab mob no. Ua li no, qib ntawm creatine phosphokinase kev ua haujlwm hauv cov ntshav ntshav tau txiav txim siab.
- kuaj DNA. Nws tso cai rau koj los txiav tximKev hloov pauv hauv CLCN1 noob. Kev tshuaj xyuas yuav tsum tau ua kom paub meej qhov kev kuaj mob.
- Electromyography (EMG). Lub koob electrode tso cai rau qhov kev kuaj mob no. Ib qho cuab yeej tau muab tso rau hauv cov nqaij ntshiv, kev tawm ntawm myotonic yog txiav txim siab, thiab cov peev xwm ntawm lub cev muaj zog raug kaw. Cov nqaij ntshiv nrog lub electrode thiab tapping, uas ua rau lawv contraction. Rov ua dua stimulation txo lub zog ntawm myotonic spasms.
- Electroneurography (ENMG). Kev ua haujlwm ntawm cov leeg nqaij thiab lub peev xwm ntawm kev cog lus raug kuaj pom los ntawm kev txhawb nqa nrog hluav taws xob impulse. Nrog ENMG, nto (cutaneous) thiab intramuscular (needle) electrodes yog siv. Daim ntawv sau npe ntawm lub peev xwm ntawm lub cev muaj zog yog nqa nrog rab koob electrodes. Kev kho mob rau Thomsen's myotonia yog dab tsi?
YMyotonia Therapy
Kev kho tsis tuaj yeem ua tiav. Lub hom phiaj tseem ceeb ntawm kev kho lub cev thiab kev siv tshuaj yog txhawm rau tshem tawm cov tsos mob thiab ua tiav qhov kev tshem tawm ruaj khov. Kev teem caij ua tau zoo:
- "Mexiletine" - sodium channel blocker, qhov kev txiav txim ntawm lub hom phiaj txo cov leeg nqaij hypertonicity.
- tshuaj diuretic - kom tswj tau cov ionic tshuav, tswj cov qib magnesium thiab txo cov poov tshuaj.
- Difenin yog ib qho tshuaj tiv thaiv kab mob zoo.
- "Diakarba" - txhim kho daim nyias nyias permeability.
- "Quinine" - txo cov leeg excitability, nce lub sijhawm refractory.
Txhua yam tshuaj muaj ntau yam tshwm sim.
Physiotherapy
Txhim kho cov txheej txheem metabolic hauv cov leeg nqaij thiab nws cov tonic spasm tau tiav nrog kev pab los ntawm:
- kev tawm dag zog;
- electrophoresis;
- kub;
- kho mob ua luam dej.
ntsuas kev tiv thaiv
Qhov ntau ntawm Thomsen's myotonia tsawg. Tus kab mob no muaj kev pom zoo, tab sis nws tsis tuaj yeem mus tas li tshem tawm ntawm myotonic tawm tsam. Kev tiv thaiv kom txo tau tus mob ntawm tus neeg mob thiab muab sij hawm rau lub neej tag nrho.
Nws yog ib qho tsim nyog yuav tsum tsis suav nrog cov xwm txheej uas ua rau qaug dab peg myotonic. Hypothermia, cov xwm txheej ntxhov siab, kev ua si lub cev hnyav, kev txav tam sim ntawd, nyob hauv ib txoj haujlwm ntev, kev ntxhov siab tsis txaus ntseeg.
Peb tau tshuaj xyuas Thomsen's myotonia, chaw kho mob, kuaj mob, kho.
