Spinal imisipha yoma: Iimpawu and Treatment

yoma spinal imisipha esizibonakalisa yabantwana yasekuqaleni. Iimpawu zokuqala angavela kwasekuqaleni 2-4 iinyanga ubudala. Esi sisifo ilifa esibonakala ngenxa yokuba iiseli zemithambo-luvo stem ingqondo kufa kancinci.

Zeziphi iingxaki

Kuxhomekeka xa iimpawu zokuqala zesi sifo, ubungozi nohlobo lokuhamba utshintsho atrophic ukuchonga iintlobo ezininzi izifo.

yoma spinal imisipha ungakwazi azivelele:

- uhlobo lokuqala: etsolo (iFom Verdiga-Hoffmann);

- Uhlobo lwesibini: esiphakathi (bobusana, chronic);

- udidi lwesithathu: ifomu isifo Kugelberg-Welander (ezondeleyo, namantshontsho).

iintlobo ezintathu izifo ezifanayo kuvela ziincutshe vekeleke ngenxa yemfuza ezahlukeneyo omnye sofuzo efanayo. yoma spinal imisipha sisifo samathambo ukuba yenzeka xa ilifa yemfuza ezimbini sofuzo, omnye umzali ngamnye. isabelo Mutational 5 ukho a chromosome. Kuyinto khona kuwo wonke 40. Isakhi ukuba ujiko iproteni eqinisekisa ubukho luvo mafutha apha emqolo. Ukuba le nkqubo iphazamisekile,-luvo kufa.

isifo Verdin-Hoffmann

Bakrokrela ingxaki kunokuba ngexesha lokukhulelwa. Ukuba umntwana iphuhlisa spinal dystrophy uhlobo yoma-1, oko sivame intshukumo elidangeleyo kwexesha ezingekazalwa ngexesha lokukhulelwa. Emva kokubeleka, oogqirha ukuxilonga ngokubanzi hypotonia kwezihlunu.

Yoma ziqala ukubonakala kwinyanga yokuqala yobomi. Amaninzi kule proximal ngongoma fascicular twitching kwemisipha emhlane, buti, yesiqephu. Kwakhona waphawula ukugula bulbar. Ezi ziquka ukukhotha amahlwempu, ukukhala buthathaka, ligwinya kakuhle. Abantwana kunye isifo Verdin-Hoffmann waphawula nciphisa ukugabha, khohlo, pharyngeal, ingqondo palatal. Kwakhona qaphela fibrillation nemisipha iilwimi.

Kodwa akukho zonke iimpawu apho yoma spinal dystrophy icaciswa. Iimpawu uphawu lohlobo sifo 1 zibandakanya ubuthathaka kunye intercostal kwizihlunu. Kule esifubeni ikhangeleka ngathi kids atshabalalisa.

Kwinyanga yokuqala yobomi, abantwana abanjalo badla baphathwa zizifo zamaphaphu, inyumoniya kunye neminqweno eqhelekileyo.

Lokufunyaniswa kwesifo Verdin-Hoffmann

Ukumisela sifo kukuba kunokwenzeka ukuba ukuhlola umntwana. Kukho inani kweempawu zonyango apho iingcali banokugqiba ukuba usana ilifa yoma spinal dystrophy. Sifo ibandakanya:

- Uhlalutyo ezinto igazi (kuya kubonakala ukwanda okungephi creatinine phosphokinase kunye aldolase);

- ukufunda electromyographic (ngokoyiswa iimpondo Icipande umnqonqo iya kubonisa isingqisho le stockade);

- iimviwo histological ze yesihlunu skeletal (ezichongiweyo izihloko fibre encinane ajikelezayo).

umnqonqo Microscopy (uphondo lwayo cipande) ibonisa ukuba kukho utshintsho sisiba mandundu kwi eziba mafutha of luvo cranial. Kukho ukufukuka globular kunye / okanye shrinkage kweeseli iimoto, microglial nonyebeleziso astrocytic, hromatolizis. La zihamba kunye ukubonakala imicu ashinyeneyo glial.

Kubalulekile ukuba wenze isifo umahluko ukwahlula aciduria eziphilayo, myopathy naso okanye umzekelo noshowo pemalinovuyu, miotubulyarnuyu myopathy okanye isifo ngentonga engundoqo.

Ipredikshini uhlobo yoma I

Kuxhomekeka ubungakanani umonakalo, isifo Verdin-Hoffmann ngazo ngokwayo kwiintsuku zokuqala emva kokuzalwa. Iingcali kwi imeko umntwana kucingelwa ukuba yome spinal dystrophy. Izithombe abantwana ezifanayo: kubutha frog ukuma. Izitho kwi inyonga emoyeni endiyibeke bucala, kunye ngengqiniba nedolo - uzimisele.

Owokuqala ubunzima ibekwe proximal izihlunu zomzimba asezantsi. Inkqubo intshabalalo iya kwi uplink. Kunye ukuqhubela phambili kwesi sifo sichaphazela izihlunu kwingqula kunye pharynx. Kuyenzeka ukuba sifo kubonakala kamva. Ke umda na yobudala kwiinyanga ezi-6. Abantwana baqale ukuphakamisa intloko yakhe ndikuqengqe phezu, kodwa zange ahlale phantsi.

abantwana abaninzi babulawa entliziyweni, ukusilela yokuphefumla, okanye izifo kunyaka wabo wokuqala bezelwe. Ngaphezu kwama-70% abantwana sife phambi kwiminyaka emi-2. Ukuya kwiminyaka emi-5 ubudala aphilileyo, iphuma malunga ne-10% ezi bantwana.

Yoma Type II

Kwezinye iimeko, kusenokubakho ezinye meko. Spinal uhlobo yoma dystrophy 2 kuvela noko kamva. Ngokuqhelekileyo Iimpawu zokuqala kuvandlakanywa kweminyaka iinyanga 8-14. Kuba ezi kids Uphawu lo ngokubanzi buthathaka kwezihlunu kunye hypotonia.

Malunga sifo zibonisa iminwe thinned ukubonakala iingcangcazela fascicular kwi izihlunu imilenze proximal, kule ngokulula. abantwana abanjalo ixesha lophuhliso obuqhelekileyo. Ba ku yobudala wakubeka ziqala ukugcina intloko yakho, uhlale phantsi. Kodwa wayengathethi self-sihamba.

Abantwana kwanya zibizele ngesiqhelo, ekuqaleni umsebenzi usana zemiphunga akukho kakuhle. Kodwa ngokuhamba kwexesha, ubuthathaka kwezihlunu uqalisa inkqubela. Maxa yobudala abadala, kukho ubunzima yokuginya, kukho ithowuni ngeempumlo yelizwi. Enye iingxaki ixhaphakileyo kwizigulane eziphawulekayo kweminyaka yokuphila zokufota.

I-ALS uhlobo II yome

Ngaphandle kwento yokuba umntwana ukuphuhlisa ngokuqhelekileyo kwiinyanga zokuqala, le meko iya iba maxongo kwexesha. Xa yobudala yabantwana ababini kulahleke amalungu ingqondo imicu. Ngaxeshanye, izihlunu intercostal buthathaka. Ngenxa yoko, Isifuba yile atshabalalisa, kubonakala uphuhliso motor libaziseko.

25 Kuphela% abantwana abaye unesigulo yoma spinal dystrophy, ngokunokwabo ahlale okanye beme ngenkxaso. zigaba Kamva esi sifo luphawulwa kyphoscoliosis imbonakalo. Abantwana abaninzi basweleke phakathi kweminyaka emi-1 no-4. Ezingunobangela eziqhelekileyo yokufa semiphunga okanye ukusilela kwezihlunu sokuphefumla.

Xa ufakela uxilongo yoma Spinal dystrophy kuyimfuneko ukwenza isifo mahluko kunye myopathies bekhubazekile okanye kwesakhiwo, uhlobo atonic-astatic zedumbe lengqondo.

Ngaphezu kwama-70% ezigulane ubomi iminyaka engaphezu kwama-emibini. Iminyaka obomi aba bantwana ngeenxa 10-12 iminyaka.

isifo Kugelberg-Welander

I-ALS elihle kunawo izigulane abaye unesigulo uhlobo spinal yoma dystrophy III. Inokubuyiselwa abaneminyaka iminyaka engama-20. Amaninzi nokubonakaliswa lokuqala kubhalwe eneminyaka engama-2-7. Owokuqala ubunzima izihlunu proximal ye isinqe.

Izigulane kunzima ukuhamba, ukubaleka, ukunyuka ukusuka kwindawo ukuchopha kunye nemfuneko ngokunyuka kwizinyuko. Kuhle ukukhumbula ukuba ezibonisa kwezonyango sifo kule fomu efana muscular progressive Becker.

iindawo Proximal ye iingalo kunye nomlenze umbhinqo kuchaphazela kuphela iminyaka embalwa emva kokuba iimpawu zokuqala zesi sifo. Ekuhambeni kwexesha, lo Isifuba likhubazeke ubonakala nongcangcazelo fascicular izandla kunye nokuhla olungalawulwayo yamaqela izihlunu ezahlukeneyo. Oku kunciphisa ikhaliphe umsipha ukuqala inkqubela deformation ithambo. Utshintsho esifubeni, iinyawo, Amaxhwele, zokufota yomqolo ibonakala.

I-ALS lohlobo isifo III

isifo Kugelberg-Welander - nto spinal abadala yoma dystrophy. Isifo iminyaka emininzi, eliqela nzima ubomi izigulane, kodwa akuyi kunenza ukukhubazeka kwabo kakhulu. It kancane kancane. Ngoko ke, abantu abaninzi lo unesifo aphile ebudaleni.

Phambi unyango kubalulekile ukwenza isifo mahluko kunye dystrophies ezahlukeneyo dystrophy, ukugcinwa glycogen uhlobo lwesifo 5 kunye myopathies zezakhiwo. Kukho ndlela sikwazi yoma spinal. Le uxilongo DNA ngqo. Oku kuyimfuneko, ngokuba wabonakala kwezonyango sifo, isifo Kugelberg-Welander ziyahluka.

Malunga nama-50% ezigulane ungasakwazi ukuhamba iminyaka eli-12. Xa oku buthathaka kwezihlunu iinkqubela kunye ubudala kuphela. hypermobility ofunda kunye contractures ezidibeneyo, kukho nengozi yokuba waphuka.

iinkalo ezibalulekileyo

Njengoko umthetho, isifo Verdin Hoffmann-kwafunyaniswa kwiinyanga ezimbalwa zobomi. Ukuba umntwana lowo akukho intshukumo kwasekuzalweni, akukho ukuphila ngokuvisisana inyanga ubudala.

Kukho khona kwemisipha nokurhwaqela usaqala, lafa ngesandla kunye nophuhliso motor ilibele, kwaye kufuneka alumkise amagqirha kunye nabazali. Aba bantwana musa ukuma ngeenyawo zawo. Kuphela ikota zonke izigulane na onokuma ngenkxaso. Kids kwisitulo sezigulana esinamavili.

Kodwa ke kunzima ukuchonga sifo, Kugelberg-Welander. Emva kwekota izigulane wavakalisa hypertrophy kwezihlunu. Ngoko ke, ukuze ngempazamo Ukufunyaniswa muscular dystrophy, endaweni yoma spinal dystrophy. Izinto ezibangela le sifo ziye zasekwa ngo-1995, xa kunokwenzeka ukuchonga gene ugn mutated. kucinywe Phantse zonke izigulane homozygous kwenzeka SMN7, luphawulwa ilahleko iikopi telomeric ezimbini sofuzo kwaye iikopi linakho centromeric.

Amaqhinga zonyango

Ngelishwa, yoma spinal eqatha sisifo samathambo, nto leyo eya kusebenza ukuthintela uphuhliso. Sibe nzima le meko kukuba akukho unyango oluthile.

Kwezinye iimeko, oogqirha ukuthenga isiqabu kuphela imeko izigulane encediswa ukuyifundisa. Ukuphucula umgangatho wobomi ngu izixhobo ezithile wamathambo.

ingqalelo ekhethekileyo kufuneka ihlawulwe yokondla izigulane ezinjalo. Ngokuqhelekileyo iziyobisi ukuphucula nethe emiselweyo. Kodwa loo nto konke oko kungenziwa xa yoma spinal dystrophy livunyiwe. Treatment iqulathe ekuqeshweni imithambo. Umsebenzi yomzimba kubalulekile ukuba ezi izigulane. Iyimfuneko ukuze ukuphucula ukusebenza izihlunu nokunyusa ubunzima. Noko ke, umthwalo kufuneka ubalwe ngugqirha wakho. Kulo mzekelo, imfundo bangaphandle nefuthe kuyingenelo kwi umzimba uphela. ukusebenza kwayo tonic izicacele. Wabelwa ukuba imithambo kusasa kwezonyango okanye zisempilweni, umthambo emanzini okanye massage nje siqinisele.