I-Schwartz-Jampel syndrome

I-Schwartz-Jampel syndrome - Lesi yisifo sofuzo esivezwa nge-anomalies eminingi ye-skeleton futhi sihambisana nokwehluleka kwenqubo ye-neuromuscular excitability. Iziguli zibhekana nobunzima ekuphumuzeni izicubu eziboshiwe, ngokumelene nesizinda sokukhula kwazo okujabulisayo (kokubili komshini kanye nogesi), okuwuphawu oluyinhloko lwe-pathology.

I-syndrome yachazwa okokuqala ngo-1962 ngodokotela ababili: u-RS Jampel (i-neuro-ophthalmologist) no-O. Schwartz (udokotela wezingane). Babone izingane ezimbili - umfowethu nodadewabo oneminyaka eyisi-6 neneminyaka emi-2. Izingane zazinezimpawu zesifo (i-blepharophimosis, umugqa ophindwe kabili we-eyelashes, ukukhubazeka kwamathambo, njll.), ababhali abahlotshaniswa nokungajwayelekile kofuzo.

Igalelo elibalulekile ekutadisheni lesi sifo senziwa omunye udokotela wezinzwa u-D. Aberfeld, owabonisa ukuthambekela kwe-pathology ekuqhubekeleni phambili, futhi waphinde wagxila ezimpawu ze-neurological. Kulokhu, ngokuvamile kukhona amagama anjalo alesi sifo: i-Schwartz-Jampel syndrome, i-myotonia chondrodystrophic.

I-Schwartz-Jampel syndrome ibhekwa njengesifo esingavamile. Izifo ezingavamile ngokuvamile yilezo zifo ezitholakala ukuthi azikho ngaphezu kwecala elilodwa kubantu abangu-1. Ukusabalala kwe-syndrome kuyinani elilinganiselwe, njengoba impilo yeziguli eziningi ifushane kakhulu, futhi lesi sifo ngokwaso sinzima kakhulu futhi sivame ukutholwa odokotela abangenalo ulwazi emkhakheni we-hereditary neuromuscular pathology.

Kuye kwatholakala ukuthi ngokuvamile i-Schwartz-Jampel syndrome ivela eMpumalanga Ephakathi, eCaucasus naseNingizimu Afrika. Ongoti bathi lokhu kudalwa wukuthi kula mazwe isibalo semishado esondelene kakhulu siphezulu kunasezweni lonke. Ngesikhathi esifanayo, ubulili, ubudala, ubuhlanga abunawo umthelela ekuvameni kokuvela kwalesi sifo.

Izimbangela ze-Schwartz-Jampel Syndrome

Izimbangela ze-Schwartz-Jampel syndrome yizinkinga zofuzo. Kucatshangwa ukuthi le pathology ye-neuromuscular inqunywa uhlobo lwefa lwe-autosomal recessive.

Ngokuya nge-phenotype ye-syndrome, ochwepheshe bakhomba izimbangela ezilandelayo zokukhula kwayo:

• Uhlobo lwakudala lwe-Schwartz-Jampel syndrome uhlobo 1A. Ifa livela ngokohlobo lwe-autosomal recessive, ukuzalwa kwamawele nalesi sifo kungenzeka. Ufuzo lwe-HSPG2, olutholakala ku-chromosome 1p34-p36,1, lushintshashintsha. Iziguli zikhiqiza amaprotheni aguquliwe athinta ukusebenza kwama-receptors atholakala ezinhlobonhlobo zezicubu, kuhlanganise nezicubu zemisipha. Le phrotheni ibizwa nge-perlecan. Ngendlela ye-classical yesifo, i-perlecan eguquliwe ihlanganiswa ngamanani ajwayelekile, kodwa ayisebenzi kahle.

• I-Schwartz-Jampel syndrome uhlobo 1B. Ifa lenzeka ngendlela ye-autosomal recessive, isakhi sofuzo esifanayo ku-chromosome efanayo, kodwa i-perlecan ayihlanganiswa ngamanani anele.

• I-Schwartz-Jampel syndrome uhlobo 2. Ifa nalo lenzeka ngendlela ye-autosomal recessive, kodwa isakhi sofuzo esingenalutho se-LIFR, esiku-chromosome 5p13,1, siyashintsha.

Kodwa-ke, isizathu sokuthi kungani izicubu ze-Schwartz-Jampel syndrome zisebenza njalo ngalesi sikhathi ngesikhathi asiqondi kahle. Kukholakala ukuthi i-perlecan eguquliwe iphazamisa ukusebenza kwamangqamuzana emisipha (ulwelwesi lwawo olungaphansi), kodwa ukuvela kokungahambi kahle kwamathambo kanye nemisipha akukakachazwa. Ngaphezu kwalokho, enye i-syndrome (i-Stuva-Wiedemann syndrome) ine-symptomatology efanayo mayelana nokukhubazeka kwemisipha, kodwa i-perlecan ayithinteki. Kulokhu, ososayensi basaqhubeka nokwenza ucwaningo olusebenzayo.

Izimpawu ze-Schwartz-Jampel syndrome

Izimpawu ze-Schwartz-Jampel syndrome zahlukaniswa kuyo yonke imibiko yamacala atholakalayo ngo-2008.

Isithombe somtholampilo sibonakala ngezici ezilandelayo:

• Ubude besiguli bungaphansi kwesilinganiso;

• I-tonic muscle spasms ende eyenzeka ngemva kokunyakaza kokuzithandela;

• Ubuso buqandisiwe, “budabukile”;

• Izindebe zicindezelwe ngokuqinile, umhlathi ongezansi mncane;

• Imifantu ye-palpebral mincane;

• Umugqa wezinwele uphansi;

• Ubuso buyisicaba, umlomo mncane;

• Ukunyakaza okuhlangene kunqunyelwe - lokhu kusebenza ezingxenyeni ze-interphalangeal zezinyawo nezandla, ikholomu yomgogodla, amalunga wesifazane, amalunga esihlakala;

• Ukuqiniswa kwemisipha kuyancishiswa;

• Imisipha yamathambo i-hypertrophied;

• Ithebula le-vertebral lifinyeziwe;

• Intamo ifushane;

• Ukuxilongwa kwe-hip dysplasia;

• Kukhona i-osteoporosis;

• Imiphetho yezinyawo ikhubazekile;

• Izwi logulayo lincane futhi liphakeme;

• Ukubona kukhubazekile, i-palpebral fissure ifinyezwa, amajwabu amehlo ekhoneni elingaphandle leso ahlanganiswe, i-cornea incane, kuvame ukuba ne-myopia kanye ne-cataract;

• Ama-eyelashes aminyene, amade, ukukhula kwawo kuphazamisekile, ngezinye izikhathi kunemigqa emibili ye-eyelashes;

• Izindlebe zibekwe phansi;

• Ngokuvamile i-hernia itholakala ezinganeni - inguinal ne-umbilical;

• Abafana banamasende amancane;

• I-gait iwukuzulazula, idada, ngokuvamile kuba khona unyawo oluguquguqukayo;

• Ngenkathi imile futhi ihamba, ingane i-half-squat;

• Inkulumo yesiguli ayicacile, ayicacile, ukuthulula amathe kuyisici;

• Amandla engqondo ayaphazamiseka;

• Kukhona ukuhlehla ekukhuleni nasekuthuthukeni;

• Iminyaka yethambo ingaphansi kweminyaka yepasipoti.

Ngaphezu kwalokho, izimpawu ze-Schwartz-Jampel syndrome ziyehluka ngokuya nge-phenotype yesifo:

I-Phenotype 1A iwuphawu

I-1A phenotype ibonakala ngokubonakala kwasekuqaleni kwesifo. Lokhu kwenzeka ngaphambi kweminyaka engu-3 ubudala. Ingane inenkinga yokugwinya nokuphefumula okusesilinganisweni. Kukhona izinkontileka kumalunga, okungaba khona kokubili kusukela ekuzalweni futhi kutholwe. Izinqe zesiguli zifushane, i-kyphoscoliosis nezinye iziphambeko ekuthuthukiseni uhlaka lwamathambo zibizwa.

Ukuhamba kwengane kuphansi, okuchazwa ubunzima bokwenza ukunyakaza. Ubuso abunyakazi, bukhumbuza imaski, izindebe zicindezelwe, umlomo mncane.

Imisipha i-hypertrophied, ikakhulukazi imisipha yamathanga. Lapho ukwelapha izingane ngenkambo yakudala ye-Schwartz-Jampel syndrome, umuntu kufanele acabangele ingozi enkulu yokuthuthukisa izinkinga zokubulala izinzwa, ikakhulukazi i-hyperthermia eyingozi. Kwenzeka ku-25% wamacala futhi kuyabulala kuma-65-80% wamacala.

Ukukhubazeka kwengqondo kusuka kokuncane kuye kokumaphakathi. Ngesikhathi esifanayo, i-20% yeziguli ezinjalo zibhekwa njengezikhubazekile ngokwengqondo, nakuba kunezincazelo zamacala omtholampilo lapho ukuhlakanipha kwabantu kwakuphezulu kakhulu.

Ukwehla kwe-myotonic syndrome kubonakala lapho uthatha iCarbamazepine.

I-Phenotype 1B iwuphawu

Lesi sifo siqala ebuntwaneni. Izimpawu zomtholampilo zifana nalezo ezibonwa ekuhlukeni kwe-classical yenkambo yesifo. Umehluko wukuthi agqame kakhulu. Okokuqala, lokhu kuthinta ukuphazamiseka kwe-somatic, ikakhulukazi ukuphefumula kwesiguli.

I-anomalies yamathambo inzima kakhulu, amathambo akhubazekile. Ukubukeka kweziguli kufana neziguli ezine-Knist syndrome (i-torso efinyeziwe kanye nezitho ezingezansi). I-prognosis yalesi phenotype yesifo ayilungile, ngokuvamile iziguli zifa zisencane.

I-Phenotype 2 iwuphawu

Lesi sifo sizibonakalisa lapho kuzalwa umntwana. Amathambo amade akhubazekile, izinga lokukhula liyancipha, inkambo ye-pathology inzima.

Isiguli sijwayele ukuphuka njalo, ubuthakathaka bemisipha, ukuphazamiseka kokuphefumula nokugwinya kuyisici. Izingane zivame ukuba ne-hyperthermia eyingozi ezenzakalelayo. I-prognosis imbi kakhulu kune-phenotypes 1A ne-1B, lesi sifo ngokuvamile siphela ngokufa kwesiguli sisebancane.

Izici zenkambo yomtholampilo yesifo ebuntwaneni:

• Ngokwesilinganiso, lesi sifo siqala ngonyaka wokuqala wokuphila kwengane;

• Ingane inenkinga yokuncela (iqala ukuncela ngemva kwesikhathi esithile ngemva kokuxhunywa ebeleni);

• Umsebenzi wezimoto uphansi;

• Kungaba nzima ngengane ukuthi ithathe ngokushesha into ayibambe ezandleni zayo;

• Ukuthuthukiswa kwengqondo kungagcinwa, ukwephulwa kubonwa ku-25% yamacala;

• Iningi leziguli liphothula ngempumelelo esikoleni, futhi izingane zifunda esikhungweni semfundo esijwayelekile, hhayi ezikhungweni zemfundo ezikhethekile.

Ukuxilongwa kwe-Schwartz-Jampel syndrome

Ukuxilongwa kwe-Perinatal ye-Schwartz-Jampel syndrome kungenzeka. Ngenxa yalokhu, kusetshenziswa i-ultrasound ye-fetus, lapho kutholwa khona ukuphazamiseka kwamathambo, i-polyhydramnios, nokunyakaza okungahambi kahle kokumunca. Izinkontileka zokuzalwa zingabonwa ngeso lengqondo emasontweni angu-17-19 okukhulelwa, kanye nokunciphisa noma ukukhubazeka kwe-hip.

Ukuhlaziywa kwe-biochemical serum yegazi kunikeza ukwanda okuncane noma okumaphakathi kwe-LDH, AST ne-CPK. Kodwa ngokumelene nesizinda sokuthuthukisa ngokuzimela noma ukucasulwa kwe-hyperthermia eyingozi, izinga le-CPK landa kakhulu.

Ukuhlola ukuphazamiseka kwemisipha, i-electromyography yenziwa, futhi izinguquko zizobonakala kakade lapho ingane ifinyelela izinyanga eziyisithupha ubudala. I-muscle biopsy nayo ingenzeka.

I-Kyphosis yomgogodla, i-osteochondrodystrophy itholakala ngokuhlolwa kwe-X-ray. Izilonda zesistimu ye-musculoskeletal zibonakala ngokucacile ngesikhathi se-MRI ne-CT. Yilezi zindlela ezimbili zokuxilonga ezisetshenziswa kakhulu odokotela banamuhla.

Kubalulekile ukwenza ukuxilongwa okuhlukile ngezifo ezinjengalezi: Isifo sika-Knist, isifo sikaPyle, i-Rolland-Desbuquois dysplasia, i-myotonia yokuzalwa yohlobo lokuqala, i-Isaacs syndrome. I-pathologies ehlukanisayo ivumela indlela yesimanje yokuxilonga njengokuthayipha kwe-DNA yofuzo.

Ukwelashwa kwe-Schwartz-Jampel syndrome

Okwamanje, akukho ukwelashwa kwe-pathogenetic ye-Schwartz-Jampel syndrome. Odokotela batusa ukuthi iziguli zihambisane nenqubo yansuku zonke, zikhawule noma ziqede ngokuphelele ukucindezeleka ngokomzimba, njengoba kuyisici esinamandla kakhulu esikhuthaza ukuqhubeka kwe-pathology.

Ngokuqondene nokuvuselelwa kweziguli, le misebenzi ikhethwa ngomuntu ngamunye futhi izohluka kuye ngokuthi isigaba sesifo. Iziguli zinconywa izivivinyo ze-physiotherapy ezinomthamo kanye nokuzivocavoca okuvamile.

Ngokuqondene nokudla okunomsoco, kufanele ungabandakanyi ukudla okuqukethe inani elikhulu lamasawoti e-potassium ekubunjweni kwawo - lawa amabhanana, ama-apricot omisiwe, amazambane, omisiwe, njll. Ukudla kufanele kube nokulinganisela, okucebile ngamavithamini kanye ne-fiber. Izitsha kufanele zinikezwe isiguli ngendlela ye-puree, ngesimo se-liquid. Lokhu kuzonciphisa ubunzima bokuhlafuna ukudla okwenzeka ngenxa ye-spasm yemisipha yobuso nemisipha yokukhukhumeza. Ngaphezu kwalokho, umuntu kufanele aqaphele ingozi yokulangazelela umoya nge-bolus yokudla, okungaholela ekuthuthukiseni i-aspiration pneumonia. Futhi, ukuqhubeka kwalesi sifo kuthonywa ukusetshenziswa kweziphuzo ezibandayo kanye ne-ayisikhilimu, ukugeza emanzini abandayo.

Izinzuzo ze-physiotherapy zokwelashwa kwe-syndrome akufanele zithathwe kancane.

Schwartz-Jampel. Imisebenzi eyabelwe i-physiotherapist:

• Ukunciphisa ubulukhuni bokubonakaliswa kwe-miotic;

• Ukuqeqeshwa kwemisipha ye-extensor yemilenze nezingalo;

• Ukumisa noma ukunciphisa ukwakheka kwamathambo nemisipha.

Ukugeza okuhlukahlukene (usawoti, okusha, i-coniferous) okuhlala imizuzu engu-15 nsuku zonke noma zonke izinsuku ziyasebenza. Okuwusizo ukugeza kwendawo ngokukhuphuka kancane kancane kwezinga lokushisa lamanzi, i-ozocerite ne-parafini izicelo, ukuchayeka emisebeni ye-infrared, massage emnene nezinye izinqubo.

Izincomo mayelana nokwelashwa kwe-spa zimi kanje: ukuya ezindaweni ezinesimo sezulu esiseduze ngangokunokwenzeka nezimo ezivamile lapho isiguli sihlala khona, noma vakashela izindawo ezinesimo sezulu esipholile.

Ukunciphisa ubulukhuni bezimpawu zesifo, le mithi elandelayo ikhonjisiwe:

• Ama-antiarrhythmic agents: I-Quinine, i-Diphenine, i-Quinidine, i-Quinora, i-Cardioquin.

• I-Acetazolamide (Diacarb), ithathwe ngomlomo.

• Ama-Anticonvulsants: Phenytoin, Carbamazepine.

• Ubuthi be-botulinum bulawulwa ngokuphezulu.

• Ukondliwa kwemisipha kugcinwa ngokuthatha i-vitamin E, i-selenium, i-taurine, i-coenzyme Q10.

Ngokuthuthukiswa kwe-blepharospasm yamazwe amabili kanye nokuba khona kwe-ptosis yamazwe amabili, iziguli zinconywa ukuhlinzwa kwe-ophthalmic. Ukukhubazeka kwamathambo okuqhubekayo, ukuvela kwezivumelwano - konke lokhu kuholela eqinisweni lokuthi iziguli kuzodingeka zidlule emisebenzini eminingi yamathambo. Ngenxa yengozi yokuthuthukisa i-hyperthermia eyingozi ebuntwaneni, izidakamizwa ziphathwa nge-rectally, ngomlomo noma nge-intranasally. Ukusebenza ngaphandle kokwehluleka kudinga ukulaliswa kokuqala nge-barbiturates noma i-benzodiazepines.

Inkambo yakudala yesifo ngokusho kwe-phenotype 1A ayinawo umthelela obalulekile esikhathini sokuphila kwesiguli. Ingozi yokuba nengane emndenini onomlando osindwayo ilingana nama-25%. Iziguli zidinga ukwesekwa ngokwengqondo nezenhlalo. Ngaphezu kwalokho, isiguli kufanele siholwe ochwepheshe abanjengalaba: isazi sezakhi zofuzo, isazi senhliziyo, isazi sezinzwa, i-anesthesiologist, i-orthopedist, udokotela wezingane. Uma kukhona ukuphazamiseka kwenkulumo, khona-ke amakilasi ane-pathologist-defectologist yokukhuluma ayaboniswa.