Hnub no, cov kab mob ntawm lub paj hlwb, uas yog keeb kwm ntawm cov xwm txheej, raug kuaj pom hauv cov tshuaj tsis ntau. Ib tug ntawm lawv yog tus kab mob Unferricht-Lundborg, los yog myoclonus epilepsy. Qhov no pathology muaj kev vam meej, ua rau dementia nyob rau hauv ib tug neeg. Qhov no yog vim muaj qhov tsis xws luag hauv kev sib txuas ntawm mucopolysaccharides thiab kev txhim kho degenerative hloov hauv cerebellum, cerebral cortex thiab thalamus.
Tus kab mob no tsis tshua muaj thiab kuaj pom hauv ib tus neeg mob tawm ntawm ib puas txhiab. Kev kho mob ntawm pathology tsuas yog cov tsos mob, feem ntau ua rau muaj kev tsis taus. Nws yog ib qho tseem ceeb uas yuav tau kuaj xyuas kom raug raws sij hawm thiab sau ntawv kho mob uas yuav ua rau tus kab mob qeeb zuj zus.
yam ntxwv thiab piav qhia txog qhov teeb meem
Myoclonus-epilepsy yog ib qho kab mob degenerative ntawm lub paj hlwb ntawm ib hom kab mob, uas yog tus cwj pwm los ntawm kev sib cog lus ntawm qee cov leeg nqaij, qaug dab peg thiab ua rau muaj kev vam meej. Kab mobkis tau los ntawm autosomal recessive yam thiab cuam tshuam nrog cov noob hloov pauv ntawm chromosome 21.
Pathology pib tshwm sim nws tus kheej ntawm lub hnub nyoog ntawm rau thiab kaum tsib nyob rau hauv daim ntawv ntawm qaug dab peg ua ke nrog nocturnal myoclonus. Tom qab ntawd cov leeg nqaij contractions tau pom ntawm cov ceg, ntawm lub cev, qhov no ua rau muaj teeb meem nrog kev saib xyuas tus kheej, nqos thiab taug kev cuam tshuam. Tshwj xeeb tshaj yog feem ntau tus kab mob manifests nws tus kheej raws li ib tug tshwm sim ntawm raug mus rau ib tug muaj zog sensory stimulus, xws li ib tug kaj flash ntawm lub teeb, ib tug ntse suab, thiab lwm yam nyob rau hauv cov ntaub ntawv no, tus neeg tsim ib tug nres, uas tej zaum yuav nrog los ntawm tsis nco qab. Nyob rau theem kawg ntawm txoj kev loj hlob, cov kab mob tau tshwm sim los ntawm cov tsos mob ntawm cerebellar ataxia, kev puas siab puas ntsws, dementia.
Nyob rau hauv pathology, muaj kev hloov pauv hauv cov nuclei ntawm thalamus, cov txiv ntseej qis thiab cov substantia nigra. Qhov no yog manifested nyob rau hauv ib tug txo nyob rau hauv tus naj npawb ntawm neurons thiab nrhiav kom tau nyob rau hauv lawv cytoplasm ntawm tshwj xeeb amyloid formations - Lafora lub cev, uas muaj polyglucosan. Cov cev no kuj pom muaj nyob rau hauv cov hlwb ntawm lub plawv, siab, qaum qaum thiab lwm yam kabmob.
Yog li, myoclonus-epilepsy yog ib hom kab mob uas muaj cov tsos mob tshwm sim hauv daim ntawv ntawm myoclonus, qaug dab peg thiab kev paub tsis meej. Tag nrho cov cim no tau pom ua ke nrog ib leeg.
Thawj zaug lawv pib tham txog kab mob hauv xyoo 1891, thaum nws tau tshawb pom los ntawm German neurologist G. Unferricht, thiab tom qab ntawd xyoo 1903 los ntawm G. Lunborg. Yog li ntawd, kev loj hlob myoclonus epilepsy yog hu uakuj Unferricht-Lundborg tus kab mob.
Feem ntau ntawm tag nrho cov kab mob no tau kuaj pom nyob rau yav qab teb Fabkis, Spain thiab Balkans, nrog rau North Africa. Pathology cuam tshuam rau tib neeg ntawm cov poj niam txiv neej sib txawv. Nws feem ntau tshwm sim thaum menyuam yaus lossis hluas.
Kev txhim kho kab mob
Qhov laj thawj tseem ceeb ntawm myoclonus qaug dab peg yog kev hloov pauv ntawm CSTB noob ntawm 21st chromosome. Piv txwv li, nws qhov tsis xws luag ua rau muaj kev cuam tshuam ntawm cov txheej txheem metabolic hauv cov paj hlwb, uas ua rau kev loj hlob ntawm tus kab mob.
Cov kab mob no txawv ntawm qhov tsuas yog CNS hlwb cuam tshuam, nws tsis cuam tshuam rau cov leeg.
Feem ntau, pathology yog tshwm sim los ntawm kev nce ntxiv ntawm cov ntawv luam ntawm cov ntu rov ua dua hauv thaj av gene. Feem ntau, tus neeg noj qab haus huv muaj ntau tshaj peb daim ntawv, nyob rau hauv tus neeg mob uas muaj tus kab mob no, tus naj npawb ntawm cov luam mus txog 90.
Txoj kev hloov pauv ntawm tus kab mob
Hauv cov tshuaj, nws yog ib txwm ua kom paub qhov txawv ntau yam kev xaiv rau pathology:
- Ib qho autosomal recessive hereditary disorder txuam nrog intracerebral tsub zuj zuj ntawm mucopolysaccharides.
- Kev nce qib pathology nrog ntau theem ntawm kev qub txeeg qub teg, uas yog tus cwj pwm los ntawm kev puas tsuaj rau lub cerebellum thiab lub pyramid ntawm medulla oblongata.
- Cerebellar dyssynergy myoclonic.
Symptoms and signs
Cov tsos mob ntawm myoclonus qaug dab peg pib tshwm sim thaum yau hauv daim ntawv ntawm qaug dab peg. Ib hlis tom qab, cov tsos mob tuaj koommyoclonus, uas tsis muaj qhov chaw tshwj xeeb. Nws zoo nkaus li tam sim ntawd thiab yog tus cwj pwm los ntawm kev sib cog lus hauv ib lossis ob peb leeg ib zaug. Xws li kev tshwm sim tuaj yeem yog ib leeg lossis rov ua dua, sib luag thiab asymmetrical. Ua ntej, cov pathology tau pom nyob rau hauv lub duav extensors, lub zog muaj me me amplitude.
Thaum myoclonus kis mus rau cov leeg nqaij, tus neeg muaj kev txav ceev ntawm cov ceg, ces cov kab mob kis mus rau lub ntsej muag, pob tw, caj dab thiab txawm tus nplaig. Thaum kawg, dysarthria tshwm sim. Cov tsos mob yog aggravated nrog active zog, lub cev ua si, muaj zog xav. Thaum pw tsaug zog, cov paib no feem ntau tsis tuaj.
Raws li tus kab mob no zuj zus, ntxhov siab, euphoria, hnov lus, tsis meej pem thiab aggression tshwm sim. Neurological kuaj pom ataxia ntawm cov ceg thiab lub cev, cov leeg nqaij hypotension. Tsis tas li ntawd, qee zaum, pom kev cuam tshuam ntawm qhov muag, uas tuaj yeem ua rau dig muag tag. Tag nrho cov no nrog mob taub hau.
Kev mob nkeeg
Vim cov tsos mob tshwm sim, tus neeg mob tsis tuaj yeem taug kev, sawv, noj nws tus kheej. Nrog rau tus kab mob vwm, tus neeg tsis nco qab, convulsions tshwm sim, uas tau rov ua ntu zus. Kev qaug dab peg txo qis thaum myoclonus nce. Cov menyuam yaus tuaj yeem ntsib qhov kev loj hlob ntawm psychomotor qeeb.
Lub sijhawm dhau mus, dementia, ataxia, tremor, rigidity, dysarthria tshwm sim. Qee zaum psychosis tsimschizophrenia, sim tua tus kheej yog pom. Tus kab mob no tshwm sim nyob rau hauv ib tug mob ntev, tsis tu ncua. Nws qhov kev cia siab tsis zoo. Kaum ob xyoos tom qab pib cov tsos mob thawj zaug, ua tiav dementia feem ntau tshwm sim, tus neeg yuav tsis taus.
ntsuas ntsuas
Kev kuaj mob myoclonus-epilepsy hauv cov menyuam yaus pib nrog kev kawm txog keeb kwm keeb kwm, kev kuaj mob ntawm tus neeg mob. Nws tseem yog ib qho tseem ceeb rau kev tshawb nrhiav caj ces. Thaum kuaj, tus kws kho mob txiav txim siab myoclonus. Yog hais tias tus me nyuam muaj hnub nyoog uas poob rau ntawm qhov kawg ntawm qhov kev loj hlob ntawm tus kab mob, qhov no yog ib qho kev pom zoo. Cov txheej txheem neurological yog siv los kuaj mob.
Tus kws kho mob sau cov kev kuaj hauv qab no:
- Ib qho electroencephalogram kom pom qhov txo qis hauv keeb kwm yav dhau los.
- Kev tshawb nrhiav caj ces txhawm rau txheeb xyuas qhov hloov pauv hauv CSTB noob, ua txhaum nws cov qauv.
- PCR txhawm rau txheeb xyuas ntau cov ntawv luam ntawm qee ntu ntawm cov noob ntawm chromosome 21.
- Chromatographic sib cais ntawm cov khoom tshuaj tiv thaiv.
- Kev tshawb fawb ntawm daim siab hlwb kom muaj lub cev Lafora.
- Kev tshuaj ntsuam ntshav ntshav rau qib mucopolysaccharides.
- Kev kuaj tawv nqaij nrog kev kuaj xyuas ntxiv ntawm cov khoom siv lom neeg.
MRI feem ntau tsis tau sau tseg, vim tias cov txheej txheem tsis qhia qhov txawv txav ntawm tus kabmob no.
Differential Diagnosis
Tsis tas li, tus kws kho mob sib txawv cov kab mob nrog cov kab mob xws li zuam-borne encephalitis, Kozhevnikov's qaug dab peg, Hunt's cerebellar myoclonic dyssynergy,myoclonic absence, sclerosing subacute leukoencephalitis, mob ataxia, Tay-Sachs syndrome.
Kev kho mob
Yog tias tus menyuam tau kuaj pom tias muaj tus kabmob myoclonus-epilepsy, nws yog dab tsi, tus kws kho mob yuav qhia, leej twg yuav tsim kho lub tswv yim. Hauv cov tshuaj, nws tsis tuaj yeem tsim qhov tsis xws luag hauv pathology, yog li ntawd, tsuas yog kho cov tsos mob xwb.
Tus kws kho mob tau sau cov tshuaj hauv qab no rau kev kho mob myoclonus epilepsy:
- Anticonvulsants: Benzonal, Clonazepam.
- txhais tau tias ntawm valproic acid, piv txwv li, "Convulex". Cov tshuaj no pab txo qis myoclonus, txo qhov zaus ntawm qaug dab peg.
- Nootropic tshuaj: Piracetam, Nootropil. Cov tshuaj no pab ua kom qeeb qhov tshwm sim ntawm kev paub tsis meej.
- YVitamin complexes, glutamic acid.
Cov kev kho mob zoo li no tuaj yeem ua rau qeeb zuj zus ntawm myoclonus qaug dab peg, ua rau tus neeg muaj sia nyob mus txog hnub nyoog laus. Feem ntau, tus kws kho mob tau sau ob lossis peb lub tshuaj tiv thaiv kab mob ib zaug, qhov ntau npaum li cas yog xaiv ib tus zuj zus hauv txhua kis.
Rau kev kho mob ntawm cov kab mob, cov tshuaj "Phenytoin" tsis yog siv, vim nws ua rau cov tsos mob ntawm cerebellar, provokes impaired kev sib koom tes ntawm kev txav thiab kev txawj ntse, nrog rau "Carbamazepine", vim hais tias cov tshuaj no tsis muaj txiaj ntsig nyob rau hauv cov ntaub ntawv no..
Nws tseem ceeb heev kom tau txais kev sab laj txog kev puas siab puas ntsws rau kev paub tsis meej ntawm ntau qibkev tshwm sim.
Huab cua
Qhov kev cia siab ntawm myoclonus-epilepsy yog qhov tsis zoo, tshwj xeeb tshaj yog tias kev kho mob pib lig. Qee zaum, muaj cov tshuaj tiv thaiv kab mob uas nyuaj rau kho. Nyob rau hauv cov ntaub ntawv no, muaj zog anticonvulsants yog siv. Thaum tsis muaj kev kho mob, tus neeg mob yuav xiam oob qhab vim yog dementia thiab ataxia. Raws li kev txheeb cais, feem ntau cov tib neeg tus kab mob ua rau cov ataxia. Tab sis cov tshuaj niaj hnub no ua rau cov neeg mob muaj sia nyob mus txog xya caum xyoo.
Kev Tiv Thaiv
Vim tus kab mob no yog los ntawm keeb kwm, tsis muaj kev tiv thaiv tshwj xeeb los tiv thaiv nws. Nws raug nquahu kom ua lub neej noj qab haus huv thiab, ntawm thawj cov tsos mob ntawm pathology, tam sim ntawd sab laj tus kws kho mob txhawm rau txhim kho tactics.
Txhawm rau txo qhov tshwm sim ntawm tus kab mob thiab ua rau nws txoj kev loj hlob qeeb, nws yog ib qho tsim nyog yuav tsum ua raws li tus kws kho mob cov lus qhia txog kev kho tshuaj. Nws tseem yog ib qho tseem ceeb uas yuav tau mus rau cov kev sib tham ntawm pab pawg neeg thiab ib tug neeg psychotherapy, raug kho ntawm txoj kev kawm.
Feem ntau cov menyuam yaus xav tau kev kho lub hlwb ntawm lub siab lub ntsws, qhov no yog qhov tseeb tshwj xeeb tshaj yog thaum hluas. Cov kws kho mob pom zoo rau lub hnub nyoog no kom kuaj xyuas los ntawm kws kho mob txhua rau lub hlis. Nws tseem yog ib qho tseem ceeb kom paub txog cov tsos mob ntawm kev nyuaj siab nyob rau hauv ib tug hluas nyob rau hauv lub sij hawm, vim hais tias qhov kev pheej hmoo ntawm kev sim tua tus kheej yog siab heev. Cov niam txiv yuav tsum ua tib zoo saib xyuas kev noj qab haus huv ntawm lawv cov menyuam uas tau kuaj pomkab mob.
Zoo kawg
Myoclonus-epilepsy – txaus yog ib yam kab mob tsis tshua muaj caj ces uas pib tshwm sim nws tus kheej thaum yau. Kev kho mob yuav tsum yog cov tsos mob, yog tias nws tau pib ua raws sijhawm, nws tuaj yeem ua rau qeeb ntawm kev loj hlob ntawm tus kab mob, yog li txhim kho lub neej zoo ntawm tus neeg mob. Thaum mob hnyav, tus kab mob ua rau muaj kev tsis taus, tus neeg tsis tuaj yeem txav mus los ntawm nws tus kheej, noj zaub mov. Nws tsim dementia.
Hauv cov tshuaj niaj hnub no, qhov ua rau kev hloov pauv ntawm cov noob, uas ua rau kev loj hlob ntawm tus kab mob, tsis tau tsim. Kuj tsis muaj kev tiv thaiv kev tiv thaiv uas tuaj yeem tiv thaiv nws qhov tshwm sim. Lub ntsiab lus tseem ceeb hauv qhov no yog kev kuaj mob raws sijhawm.
Nws yuav tsum nco ntsoov tias myoclonus qaug dab peg yog tshwm sim los ntawm ib qho triad ntawm cov tsos mob: qaug dab peg qaug dab peg, kev paub tsis meej thiab tam sim ntawd contraction ntawm qee cov leeg nqaij (myoclonus). Cov yam ntxwv no yog lub ntsiab lus tseem ceeb hauv kev kuaj mob ua ntej.
