Duchenne muscular dystrophy na Becker: ọgwụgwọ

Genetic ọrịa nke na ìgwè nke arọ pathologies ọgwụgwọ nke nke taa siri ike. Otu n'ime ndị a chromosomal abnormalities na-hụrụ dị iche iche imebi. Ọtụtụ n'ime ha nwere neurologic mgbaàmà. Ihe Nlereanya bụ Duchenne muscular dystrophy, Becker. Ọrịa ndị a ịzụlite nwata na-enwe a na-aga n'ihu N'ezie. N'agbanyeghị ọganihu nke neuroscience, dị pathologies ndị siri ike na-emeso. Nke a bụ n'ihi chromosomal mgbanwe na-tọrọ n'oge e guzobere na nke ahu.

Description of Duchenne muscular dystrophy

Duchenne muscular dystrophy - a mkpụrụ ndụ ihe nketa na ọrịa ji nwayọọ nwayọọ na-muscle ọrịa unit. The daa ọrịa bụ obere. Njupụta nke anomaly bụ mkpokọta 3 mmadụ kwa 10 000 ụmụ nwoke. Ọrịa na fọrọ nke nta niile ikpe, na-emetụta ụmụ okorobịa. O sina dị, na mmepe nke Duchenne muscular ụmụ agbọghọ na-abụghị ekwe. Nke a daa ọrịa na-egosipụta onwe na nwata.

Ọrịa ndị ọzọ na nwere otu na-akpata na mgbaàmà bụ myodystrophy Becker. Ọ nwere a ọzọ mma N'ezie. muscle anụ ahụ mebiri emee ihe e mesịrị - na-eto eto. Na nke a, ihe mgbaàmà ịzụlite nwayọọ nwayọọ, na-enwe ndidi nwee ike na-arụ ọrụ n'ime afọ ole na ole. Dị ka Duchenne muscular dystrophy, nke a daa ọrịa bụ n'etiti ndị nwoke bi. The omume bụ 1 onye 20 puku ụmụ nwoke.

Duchenne muscular dystrophy: neuroimmunology ọrịa

Ihe kpatara ma pathologies idu ke mebiri nke X chromosome. Genetic mgbanwe na-erukwa na Duchenne na Becker muscular dystrophy, mụọ na 30-ies nke ikpeazụ nke narị afọ. Otú o sina etiological ọgwụ bụghị ma a hụrụ. anomalies recessive mode nke nketa. Nke a pụtara na ọ bụrụ na ọrịa ntutu ịdapụsị site n'usoro bụ ugbu a na onye nke nne na nna, ihe gbasara nke puru nke a na-arịa ọrịa na nwa nwa bụ 25%. The X chromosome bụ ndị fọdụrụ n'ezinụlọ ke idem. Na ma ụdị dystrophies iro n'akparamagwa otu locus (p21). Nke a mmebi na-eduga ná a ọnụ ke protein njikọ, nke bụ akụkụ nke cell membranes nke muscle anụ ahụ. Duchenne muscular dystrophy mgbe ọ bụ kpam kpam na-anọghị. Ya mere, imebi ime ọtụtụ mbụ. Becker muscular dystrophy mgbe a protein na-synthesized obere obere ma ọ bụ bụ enweghị nchịkwa.

The adakarị foto nke muscular dystrophy

Duchenne muscular dystrophy e ji ọnya nke neuromuscular usoro. The ọrịa nwere ike-enyo enyo na afọ 2-3 afọ. N'oge a, ọ na-aghọ doro anya na a na nwa lags n'azụ na anụ ahụ mmepe nke ndị ọgbọ ha, na-aga ihe ọjọọ, na-agba na jumps. Ya mere ụmụaka ike rịa steepụ, ọ na-ada. The mmeri nke uru ahụ na-amalite na ala na nsọtụ. Mgbe e mechara, ọ na-ekpuchi niile proximal uru. Mbelata pụtara na elu ubu-ọkiké, quadriceps. Na ebe ndị a na e nwere thinning nke uru ahụ. N'ime afọ, myodystrophy-aga n'ihu. The mmeri nke uru ahụ na a mgbe nile na-ibu na ha na-edu ka contractures - persistent distortions aka na ụkwụ. Ke adianade do, ọrịa na Duchenne muscular dystrophy hụrụ ọrịa obi, nke oge na-eme ka onwe ha chere. Ọzọkwa maka ọrịa a na-ji a ọnụ nke ndị nwere ọgụgụ isi ikike (bụghị nnọọ akpọ).

Becker muscular dystrophy nwere otu ihe mgbaàmà, ma na-aga. The mbụ ngosipụta ime na 10-15 afọ. E nwere a nwayọọ nwayọọ gbanwee gait unsteadiness ogosiri mesịrị ịzụlite contracture. Imebi nke obi usoro dị nwayọọ. Intelligence na ọrịa a na-emekarị bụghị belata.

Olee otú ịchọpụta muscular dystrophy?

Diagnosis "Duchenne muscular dystrophy" (ma ọ bụ Becker) nwere ike na-etinye ahụmahụ ọkà mmụta ọrịa akwara. Ke akpa itie ya dabeere na-adakarị foto nke ọrịa ndị a. A dọọrọ uche na mgbaàmà ndị dị otú ahụ dị ka thinning nke proximal mọzụlụ, nke gastroknemiọsị hypertrophy ụgha (emee ruru fibrosis na abụba ego). Ndị a mgbaàmà na-fọrọ nke nta mgbe jikọtara na obi pathologies. The ECG nwere ike hụrụ dysrhythmia, ekpe ventricular hypertrophy.

Ọzọkwa, ọrịa na Duchenne muscular dystrophy ubé ala azụ ndị ọgbọ ha na ọgụgụ isi development. Iji chọpụta nke a, umu-arụ ọrụ dị ka a ọkà n'akparamàgwà mmadụ. Mgbe ọrịa na-enyo enyo rụrụ myography (definition nke electric nwere muscle) na EhoKS - ule nke obi-ulo. Iji n'ụzọ ziri ezi chọpụta na ọnụnọ nke ọrịa, mkpụrụ ndụ ihe nketa nchoputa a rụrụ. Mgbe Duchenne na Becker muscular dystrophy ọrịa ga-hụrụ na ọtụtụ ndị ọkachamara. Otu n'ime ha - a ọkà mmụta ọrịa akwara, a ọkà n'akparamàgwà mmadụ na a cardiologist.

ọgwụgwọ

N'ụzọ dị mwute, etiological ọgwụgwọ nke Duchenne muscular dystrophy na Becker e mepụtara. Otú ọ dị, ọrịa na-egosi symptomatic ma na-akwado ọgwụ. Ná mmalite nkebi nke ọrịa na-rụrụ ọmụmụ nke physiotherapy, ịhịa aka n'ahụ. Na ịrịba nkwarụ mkpa iji na-n'ezinụlọ mmegharị nke aka na ụkwụ. Iji jiri ndị progression nke ndọtị contractures, amalite gwara ụkwụ n'oge na-ehi ụra. Mmezi ọgwụ nwere ike ogologo ndụ nke ọrịa ma belata ihe mgbaàmà. Jiri calcium Mmeju, ọgwụ "galantamine" na "Neostigmine". Mgbe ụfọdụ, nye iwu ka mmiri ọgwụ mmadụ, tumadi "Prednisolone". Mgbe a na-aga n'ihu aghara nke obi inye cardioprotectors.

Duchenne muscular dystrophy na Becker amụma

Duchenne muscular dystrophy prognosis na-adịghị mma. The n'oge mmepe nke mgbaàmà na otutu oge progression nke ọrịa na-eduga ná nsogbu na nwata. Ọrịa na nsogbu a dị mkpa mgbe nile na-elekọta. The nkezi ndu ndimmadu nke ọrịa bụ banyere 20 afọ. Becker muscular dystrophy e ji a mma N'ezie. N'okpuru elekọta ya mgbe nile ndị dọkịta na mmejuputa ha ntụziaka operability nke ọrịa na-echekwawo ruo 30-35 afọ.