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Schwartz-Jampel Syndrome - Qhov no yog ib yam kab mob uas tau tshwm sim nyob rau hauv ntau yam anomalies ntawm lub cev pob txha thiab yog nrog los ntawm tsis ua hauj lwm nyob rau hauv tus txheej txheem ntawm neuromuscular excitability. Cov neeg mob ntsib teeb meem hauv kev so cov leeg nqaij, tawm tsam keeb kwm yav dhau los ntawm lawv qhov kev muaj zog ntxiv (ob qho tib si thiab hluav taws xob), uas yog cov tsos mob tseem ceeb ntawm pathology.
Tus mob no tau piav qhia thawj zaug hauv xyoo 1962 los ntawm ob tus kws kho mob: RS Jampel (neuro-ophthalmologist) thiab O. Schwartz (pediatrician). Lawv pom ob tug menyuam - ib tug kwv tij thiab ib tug muam uas muaj 6 xyoo thiab 2 xyoos. Cov menyuam yaus muaj cov tsos mob ntawm tus kab mob (blepharophimosis, ob kab ntawm cov plaub muag, pob txha deformities, thiab lwm yam), uas cov kws sau ntawv cuam tshuam nrog cov caj ces txawv txav.
Ib qho txiaj ntsig tseem ceeb rau txoj kev tshawb fawb ntawm tus mob no yog ua los ntawm lwm tus kws kho mob neurologist D. Aberfeld, uas tau taw qhia txog kev nyiam ntawm cov kab mob mus rau kev vam meej, thiab tseem tsom mus rau cov tsos mob neurological. Hauv qhov no, muaj ntau lub npe ntawm tus kab mob xws li: Schwartz-Jampel syndrome, myotonia chondrodystrophic.
Schwartz-Jampel syndrome tau lees paub tias yog ib yam kab mob tsawg. Cov kab mob tsis tshua muaj feem ntau yog cov kab mob uas kuaj pom tsis pub ntau tshaj 1 kis ntawm 2000 tus neeg. Qhov tshwm sim ntawm tus mob no yog tus nqi txheeb ze, txij li lub neej ntawm cov neeg mob feem ntau luv luv, thiab tus kab mob nws tus kheej yog qhov nyuaj heev thiab feem ntau kuaj tau los ntawm cov kws kho mob uas tsis muaj kev paub txog kev ua haujlwm ntawm cov kab mob neuromuscular pathology.
Nws tau tsim tias feem ntau Schwartz-Jampel syndrome tshwm sim hauv Middle East, Caucasus thiab South Africa. Cov kws tshaj lij ntaus nqi qhov tseeb rau qhov tseeb tias nws yog nyob rau hauv cov teb chaws uas muaj cov kev sib raug zoo ntawm kev sib yuav yog siab dua nyob rau hauv tag nrho lub ntiaj teb no. Nyob rau tib lub sijhawm, poj niam txiv neej, hnub nyoog, haiv neeg tsis muaj kev cuam tshuam rau qhov tshwm sim ntawm qhov kev mob caj ces no.
Ua rau Schwartz-Jampel Syndrome
Qhov ua rau Schwartz-Jampel syndrome yog cov kab mob caj ces. Nws tau xav tias qhov no neuromuscular pathology yog txiav txim siab los ntawm autosomal recessive hom qub txeeg qub teg.
Nyob ntawm qhov phenotype ntawm tus mob syndrome, cov kws tshaj lij txheeb xyuas cov hauv qab no ua rau nws txoj kev loj hlob:
Cov hom classic ntawm Schwartz-Jampel syndrome yog hom 1A. Cov cuab yeej cuab tam tshwm sim raws li hom autosomal recessive, yug menyuam ntxaib nrog cov kab mob no tuaj yeem ua tau. HSPG2 noob, nyob rau ntawm chromosome 1p34-p36,1, tau hloov pauv. Cov neeg mob tsim cov protein hloov pauv uas cuam tshuam rau kev ua haujlwm ntawm receptors nyob rau hauv ntau yam ntaub so ntswg, nrog rau cov leeg nqaij. Cov protein no hu ua perlecan. Nyob rau hauv daim ntawv classical ntawm tus kab mob, lub mutated perlecan yog synthesized nyob rau hauv ib txwm nqi, tab sis nws ua hauj lwm tsis zoo.
Schwartz-Jampel Syndrome 1B. Cov cuab yeej cuab tam tshwm sim nyob rau hauv autosomal recessive yam, tib lub noob ntawm tib chromosome, tab sis perlecan tsis yog synthesized nyob rau hauv txaus kom muaj nuj nqis.
Schwartz-Jampel syndrome hom 2. Cov cuab yeej cuab tam kuj tshwm sim nyob rau hauv autosomal recessive yam, tab sis lub null LIFR noob, nyob rau ntawm chromosome 5p13,1, mutates.
Txawm li cas los xij, vim li cas vim li cas cov leeg nqaij hauv Schwartz-Jampel syndrome tau ua haujlwm tas li ntawm lub sijhawm no tsis nkag siab zoo. Nws ntseeg tau tias kev hloov pauv perlecan cuam tshuam kev ua haujlwm ntawm cov leeg hlwb (lawv hauv qab daus daim nyias nyias), tab sis qhov tshwm sim ntawm cov pob txha thiab cov leeg nqaij txawv txav tseem tsis tau piav qhia. Tsis tas li ntawd, lwm tus mob (Stuva-Wiedemann syndrome) muaj cov tsos mob zoo sib xws ntawm cov leeg nqaij, tab sis perlecan tsis cuam tshuam. Nyob rau hauv cov kev taw qhia no, cov kws tshawb fawb tseem tab tom ua cov kev tshawb fawb nquag.
Cov tsos mob ntawm Schwartz-Jampel syndrome
Cov tsos mob ntawm Schwartz-Jampel syndrome tau raug cais tawm ntawm txhua qhov xwm txheej muaj nyob rau xyoo 2008.
Daim duab kho mob yog tus cwj pwm los ntawm cov yam ntxwv hauv qab no:
Tus neeg mob qhov siab yog qis dua qhov nruab nrab;
Ntev ntev tonic spasms uas tshwm sim tom qab kev yeem txav;
Lub ntsej muag khov, "tu siab";
Daim di ncauj yog compressed nruj, lub puab tsaig sab yog me me;
Lub palpebral fissures yog nqaim;
Cov plaub hau yog qis;
Lub ntsej muag yog flattened, lub qhov ncauj yog me me;
Kev sib koom ua ke yog txwv - qhov no siv rau cov pob qij txha interphalangeal ntawm ko taw thiab ob txhais tes, kab laug sab, pob qij txha, pob qij txha;
Cov leeg nqaij reflexes raug txo;
Cov leeg pob txha yog hypertrophied;
Lub rooj vertebral yog luv;
Lub caj dab yog luv;
Kev kuaj mob hip dysplasia;
Muaj osteoporosis;
Cov arches ntawm ko taw yog deformed;
Lub suab ntawm tus mob yog nyias thiab siab;
Lub zeem muag tsis pom kev, palpebral fissure yog luv, daim tawv muag ntawm lub ces kaum sab nrauv ntawm lub qhov muag yog fused, lub cornea me, feem ntau muaj myopia thiab cataracts;
Cov plaub muag yog tuab, ntev, lawv txoj kev loj hlob tsis zoo, qee zaum muaj ob kab ntawm cov plaub muag;
Lub pob ntseg tau teeb tsa qis;
Feem ntau muaj hernia nyob rau hauv cov me nyuam - inguinal thiab umbilical;
Cov menyuam yaus muaj cov noob qes me me;
Lub gait yog waddling, os, feem ntau muaj ib tug clubfoot;
Thaum sawv ntsug thiab taug kev, tus menyuam nyob hauv ib nrab-squat;
Tus neeg mob hais lus yog fuzzy, tsis meej, salivation yog yam ntxwv;
Kev puas siab puas ntsws cuam tshuam;
Muaj kev lag luam hauv kev loj hlob thiab kev loj hlob;
Cov pob txha muaj hnub nyoog tsawg dua li hnub nyoog passport.
Tsis tas li ntawd, cov tsos mob ntawm Schwartz-Jampel syndrome txawv nyob ntawm qhov phenotype ntawm tus kab mob:
Phenotype 1A yog cov tsos mob
Tus 1A phenotype yog tus cwj pwm los ntawm qhov tshwm sim thaum ntxov ntawm tus kab mob. Qhov no tshwm sim ua ntej hnub nyoog 3 xyoos. Tus me nyuam muaj qhov nqos thiab ua pa nyuaj. Muaj kev cog lus ntawm cov pob qij txha, uas tuaj yeem tshwm sim thaum yug los thiab tau txais. Tus neeg mob lub duav luv luv, kyphoscoliosis thiab lwm yam anomalies nyob rau hauv txoj kev loj hlob ntawm lub pob txha taub hau yog pronounced.
Kev txav mus los ntawm tus menyuam yog qhov tsawg, uas tau piav qhia los ntawm cov teeb meem hauv kev ua haujlwm. Lub ntsej muag yog motionless, reminiscent ntawm daim npog qhov ncauj, daim di ncauj yog compressed, lub qhov ncauj yog me me.
Cov leeg yog hypertrophied, tshwj xeeb tshaj yog cov leeg ntawm tus ncej puab. Thaum kho cov menyuam yaus nrog cov chav kawm classic ntawm Schwartz-Jampel syndrome, ib tus yuav tsum coj mus rau hauv tus account qhov kev pheej hmoo siab ntawm kev tsim cov tshuaj loog, tshwj xeeb tshaj yog malignant hyperthermia. Nws tshwm sim hauv 25% ntawm cov neeg mob thiab tuag taus hauv 65-80% ntawm cov neeg mob.
Kev puas siab puas ntsws nyob ntawm me me mus rau nruab nrab. Nyob rau tib lub sijhawm, 20% ntawm cov neeg mob zoo li no tau lees paub tias muaj kev puas siab puas ntsws, txawm hais tias muaj cov lus piav qhia txog kev kho mob thaum cov neeg txawj ntse heev.
Kev txo qis hauv myotonic syndrome yog pom thaum noj Carbamazepine.
Phenotype 1B yog cov tsos mob
Tus kab mob no tshwm sim thaum me nyuam mos. Cov tsos mob tshwm sim zoo ib yam li cov pom nyob rau hauv classical variant ntawm chav kawm ntawm tus kab mob. Qhov txawv yog tias lawv tau hais ntau dua. Ua ntej tshaj plaws, qhov no cuam tshuam txog kev puas siab puas ntsws, tshwj xeeb tshaj yog tus neeg mob ua tsis taus pa.
Skeletal anomalies yog hnyav dua, cov pob txha deformed. Cov tsos mob ntawm cov neeg mob zoo ib yam li cov neeg mob uas muaj Knist syndrome (lub cev luv luv thiab qis qis). Qhov kev cia siab rau qhov phenotype ntawm tus kab mob no tsis zoo, feem ntau cov neeg mob tuag thaum ntxov.
Phenotype 2 yog cov tsos mob
Tus kab mob manifests nws tus kheej thaum yug me nyuam. Cov pob txha ntev yog deformed, qhov kev loj hlob qeeb qeeb, kev kawm ntawm pathology yog hnyav.
Tus neeg mob feem ntau ua rau cov pob txha tsis zoo, cov leeg tsis muaj zog, ua pa thiab nqos tau yog yam ntxwv. Cov menyuam yaus feem ntau tsim muaj tus kabmob malignant hyperthermia. Qhov kev cia siab yog qhov phem dua li nrog phenotypes 1A thiab 1B, tus kab mob feem ntau xaus nrog kev tuag ntawm tus neeg mob thaum ntxov.
Cov yam ntxwv ntawm chav kho mob ntawm tus kab mob hauv menyuam yaus:
Qhov nruab nrab, tus kab mob no tshwm sim thawj xyoo ntawm tus menyuam lub neej;
Tus me nyuam muaj teeb meem nqus (pib nqus tom qab ib lub sij hawm tom qab txuas rau lub mis);
Lub cev muaj zog ua haujlwm tsawg;
Nws tuaj yeem nyuaj rau tus menyuam tam sim ntawd khaws ib qho khoom uas nws tuav ntawm nws txhais tes;
Kev loj hlob ntawm kev txawj ntse tuaj yeem khaws cia, kev ua txhaum cai raug pom hauv 25% ntawm cov neeg mob;
Feem ntau ntawm cov neeg mob tau kawm tiav hauv tsev kawm ntawv, thiab cov menyuam yaus tuaj koom lub tsev kawm ntawv, thiab tsis yog cov tsev kawm tshwj xeeb.
Kev kuaj mob ntawm Schwartz-Jampel syndrome
Kev kuaj mob Perinatal ntawm Schwartz-Jampel syndrome yog ua tau. Rau qhov no, ultrasound ntawm tus me nyuam hauv plab yog siv, thaum lub sij hawm uas skeletal anomalies, polyhydramnios, thiab impaired nqus txav. Congenital contractures tuaj yeem pom ntawm 17-19 lub lis piam ntawm cev xeeb tub, nrog rau qhov luv lossis deformity ntawm lub duav.
Biochemical tsom xam ntawm cov ntshav ntshav muab me ntsis lossis nruab nrab nce hauv LDH, AST thiab CPK. Tab sis tawm tsam keeb kwm ntawm nws tus kheej tsim los yog provoked malignant hyperthermia, qib ntawm CPK nce ntau.
Txhawm rau ntsuas cov leeg mob, electromyography tau ua, thiab cov kev hloov pauv yuav pom tau tshwm sim thaum tus menyuam muaj hnub nyoog txog rau lub hlis. Ib qho nqaij biopsy kuj tseem ua tau.
Kyphosis ntawm tus txha caj qaum, osteochondrodystrophy yog kuaj pom los ntawm kev kuaj X-ray. Cov kab mob ntawm cov kab mob musculoskeletal pom meej meej thaum MRI thiab CT. Nws yog ob txoj kev kuaj mob no uas feem ntau siv los ntawm cov kws kho mob niaj hnub no.
Nws yog ib qho tseem ceeb uas yuav tsum tau kuaj xyuas qhov sib txawv ntawm cov kab mob xws li: Knist's disease, Pyle's disease, Rolland-Desbuquois dysplasia, congenital myotonia ntawm thawj hom, Isaacs syndrome. Distinguishing pathologies tso cai rau xws li ib tug niaj hnub kuaj txoj kev raws li genetic DNA typing.
Kev kho mob ntawm Schwartz-Jampel syndrome
Tam sim no, tsis muaj kev kho mob pathogenetic ntawm Schwartz-Jampel syndrome. Cov kws kho mob pom zoo kom cov neeg mob ua raws li kev ua haujlwm niaj hnub, txwv lossis tshem tawm tag nrho lub cev overstrain, vim nws yog qhov muaj zog tshaj plaws uas txhawb kev loj hlob ntawm pathology.
Raws li kev kho mob ntawm cov neeg mob, cov kev ua ub no raug xaiv los ntawm tus kheej thiab yuav txawv nyob ntawm theem ntawm tus kab mob. Cov neeg mob tau pom zoo rau kev kho lub cev nrog kev siv tshuaj noj thiab ua kom lub cev tsis tu ncua.
Raws li kev noj haus, koj yuav tsum tsis suav cov zaub mov uas muaj ntau cov poov tshuaj ntsev nyob rau hauv lawv cov muaj pes tsawg leeg - cov no yog txiv tsawb, qhuav apricots, qos yaj ywm, raisins, thiab lwm yam. Cov zaub mov yuav tsum sib npaug, nplua nuj nyob rau hauv cov vitamins thiab fiber. Cov tais diav yuav tsum tau muab rau tus neeg mob nyob rau hauv daim ntawv ntawm puree, nyob rau hauv daim ntawv kua. Qhov no yuav txo qhov nyuaj nrog zom cov zaub mov uas tshwm sim los ntawm spasm ntawm lub ntsej muag nqaij thiab cov nqaij masticatory. Tsis tas li ntawd, ib tug yuav tsum paub txog qhov kev pheej hmoo ntawm kev aspiration ntawm cov hlab ntsws nrog cov khoom noj bolus, uas tuaj yeem ua rau muaj kev loj hlob ntawm aspiration pneumonia. Tsis tas li ntawd, kev loj hlob ntawm tus kab mob yog cuam tshuam los ntawm kev siv dej txias thiab dej khov, da dej hauv dej txias.
Cov txiaj ntsig ntawm physiotherapy rau kev kho mob ntawm tus mob yuav tsum tsis txhob raug kwv yees.
Schwartz-Jampel. Cov haujlwm uas tau muab rau tus kws kho mob lub cev:
Txo qhov hnyav ntawm miotic manifestations;
Kev cob qhia ntawm cov leeg extensor ntawm ob txhais ceg thiab caj npab;
Nres los yog qeeb ntawm kev tsim cov pob txha thiab cov leeg nqaij contractures.
Kev da dej ntau yam (ntsev, tshiab, coniferous) kav ntev li 15 feeb txhua hnub lossis txhua hnub yog siv tau. Pab tau zoo yog cov chav da dej hauv zos nrog kev maj mam nce hauv dej kub, ozocerite thiab paraffin daim ntaub ntawv, raug rau infrared rays, maj mam zaws thiab lwm yam txheej txheem.
Cov lus pom zoo hais txog kev kho spa muaj raws li hauv qab no: mus rau thaj chaw uas nws huab cua nyob ze li sai tau rau cov xwm txheej ib txwm muaj uas tus neeg mob nyob, lossis mus xyuas thaj chaw uas muaj huab cua me me.
Txhawm rau txo qhov hnyav ntawm cov tsos mob ntawm tus kab mob, cov tshuaj hauv qab no tau qhia:
Antiarrhythmic agents: Quinine, Diphenine, Quinidine, Quinora, Cardioquin.
Acetazolamide (Diacarb), noj qhov ncauj.
Anticonvulsants: Phenytoin, Carbamazepine.
Botulinum toxin muab tshuaj pleev ib ce.
Cov nqaij noj zaub mov yog tswj hwm los ntawm kev noj cov vitamin E, selenium, taurine, coenzyme Q10.
Nrog rau kev loj hlob ntawm ob sab blepharospasm thiab nyob rau hauv lub xub ntiag ntawm ob sab ptosis, cov neeg mob raug pom zoo phais ophthalmic. Progressive pob txha deformities, qhov tshwm sim ntawm contractures - tag nrho cov no ua rau lub fact tias cov neeg mob yuav tsum mus los ntawm ntau yam orthopedic kev khiav hauj lwm. Vim muaj kev pheej hmoo ntawm kev tsim malignant hyperthermia nyob rau hauv me nyuam yaus, cov tshuaj tau muab tshuaj rectally, qhov ncauj los yog intranasally. Kev ua haujlwm yam tsis tau poob yuav tsum tau ua ntej sedation nrog barbiturates lossis benzodiazepines.
Cov chav kawm classical ntawm tus kab mob raws li phenotype 1A tsis muaj qhov cuam tshuam loj rau lub neej expectancy ntawm tus neeg mob. Qhov kev pheej hmoo ntawm kev muaj menyuam hauv tsev neeg uas muaj keeb kwm hnyav yog sib npaug li 25%. Cov neeg mob xav tau kev txhawb siab thiab kev sib raug zoo. Tsis tas li ntawd, tus neeg mob yuav tsum tau coj los ntawm cov kws kho mob tshwj xeeb xws li: kws kho caj ces, kws kho plawv, kws kho mob hlwb, kws tshuaj loog, kws kho mob orthopedist, kws kho menyuam yaus. Yog tias muaj kev hais lus tsis zoo, cov chav kawm nrog tus kws kho mob hais lus-defectologist tau qhia.