The muscular dystrophies zvinoenderana nemhuri yezvirwere zvetsandanyama zvinoratidzirwa nekushaya simba uye kufambira mberi kwemuscular degeneration: fibers of the muscles of the body degenerate. Misumbu yacho zvishoma nezvishoma atrophy, kureva, inorasikirwa nehuwandu hwavo uye naizvozvo simba ravo.

Izvozvo ndizvo zvirwere Original genetic iyo inogona kuoneka pazera ripi neripi: kubva pakuzvarwa, panguva yehudiki kana kunyange mukukura. Kune anopfuura mafomu e30 akasiyana muzera rekutanga kwezviratidzo, chimiro chemisumbu inobatwa uye kuomarara. Yakawanda muscular dystrophies inowedzera zvishoma nezvishoma. Parizvino hapasati pave nemushonga. Iyo inonyanya kuzivikanwa uye yakajairika yemascular dystrophies ndeye Duchenne tsandanyama dystrophy, iyo inonziwo "Duchenne muscular dystrophy".

Mune tsandanyama dystrophy, tsandanyama dzakabatwa muscular dystrophy ndiyo inonyanya kubvumira kufamba kwokuzvidira, kunyanya mhasuru, zvidya, makumbo, maoko nemaoko. Mune mamwe dystrophies, mhasuru dzekufema uye moyo zvinogona kukanganiswa. Vanhu vane muscular dystrophy vanogona kurasikirwa nekufamba kwavo zvishoma nezvishoma pakufamba. Zvimwe zviratidzo zvinogona kusanganiswa nekushaya simba kwemhasuru, kunyanya moyo, gastrointestinal, matambudziko emeso, nezvimwe.

Kuwanda

The muscular dystrophies zviri pakati pezvirwere zvisingawanzoitiki uye zvenherera. Zvakaoma kuziva iyo chaiyo frequency, nekuti inounza pamwechete zvirwere zvakasiyana. Dzimwe ongororo dzinofungidzira kuti munhu mumwe chete pavanhu vatatu anacho.

Somuenzaniso:

• La myopathy Duchenne¹ Duchenne¹inobata anenge mumwe muvakomana 3500.
• Becker's muscular dystrophy inobata 1 muvakomana gumi nevasere²,
• Facioscapulohumeral dystrophy inobata anenge 1 muvanhu makumi maviri.
• La maladie d'Emery-Dreifuss, inobata 1 muvanhu 300 uye inokonzera kudzosa tendon uye kukuvara kwemhasuru yemoyo

Mamwe muscular dystrophies anowanikwa mune mamwe matunhu epasi. Naizvozvo : 

• Iyo inonzi Fukuyama congenital myopathy inonyanya kunetsa Japan.
• MuQuebec, kune rumwe rutivi, ndizvo oculopharyngeal muscular dystrophy iyo inotonga (1 kesi pamunhu 1), nepo isingawanzo shomeka munyika yese (000 kesi pa1 paavhareji¹) Sezvinoratidzwa nezita racho, chirwere ichi chinonyanya kukanganisa tsandanyama dzemaziso nepahuro.
• Kune rumwe rutivi, iyo Chirwere cheSteinert kana kuti "Steinert's myotonia", inowanikwa zvikuru munharaunda yeSaguenay-Lac St-Jean, iyo inobata anenge 1 mu500 vanhu.
• The sarcoglycanopathies dzakawanda kuNorth Africa uye dzinobata munhu mumwe chete pavanhu 200 kuchamhembe kwakadziva kumabvazuva kweItaly.
• Calpainopathy zvakatanga kutsanangurwa muReunion Island. Mumwe muvanhu mazana maviri anobatwa.

Zvinokonzera

The muscular dystrophies ndivo genetic zvirwere, kureva kuti imhaka yeanomaly (kana mutation) yejini inodiwa pakushanda kwakanaka kwemhasuru kana kukura kwavo. Kana iyi gene ikashandurwa, mamhasuru haagone kubvumirana zvakajairika, anorasikirwa nesimba uye atrophy.

Mazana gumi nemaviri emajini akasiyana anobatanidzwa muscular dystrophies. Kazhinji, aya ndiwo majini "anogadzira" mapuroteni ari mu membrane yemasero emhasuru.³.

Somuenzaniso:

• Duchenne muscular dystrophy myopathy inobatanidza nekushomeka mukati dystrophine, puroteni iri pasi pemembrane yemasero etsandanyama uye inoita basa mukudhonzwa kwetsandanyama.
• Muinenge hafu yecongenital muscular dystrophies (iyo inoonekwa pakuzvarwa), kushaikwa merosine, chikamu chemembrane yemasero emhasuru, inobatanidzwa.

Kufanana nevakawanda genetic zvirwere, muscular dystrophies inowanzopfuudzwa nevabereki kuvana vavo. Kakawanda, vanogonawo "kuonekwa" pakarepo, apo jini rinoshanduka netsaona. Muchiitiko ichi, chirwere chechirwere hachipo muvabereki kana dzimwe nhengo dzemhuri.

Kazhinji yenguva, iyo tsandanyama dystrophy inoparadzirwa nenzira kuwanda. Nemamwe mashoko, kuti hosha iratidzike, vabereki vose vari vaviri vanofanira kuva vatakuri ndokupfuudza majini asina kujairika kumwana. Asi chirwere chacho hachizviratidzi muvabereki, sezvo mumwe nomumwe anotakura geni rimwechete risina kujairika revabereki uye kwete maviri asina kujairika evabereki majini. Zvisinei, jena rimwe chete rakajairwa rinokwana kuti tsandanyama dzishande zvakanaka.

Mukuwedzera, mamwe dystrophies anokanganisa chete vakomana : iyi ndiyo nyaya yeDuchenne muscular dystrophy uye Becker's muscular dystrophy. Muzviitiko zvese izvi, jini rinobatanidzwa muzvirwere zviviri izvi riri paX chromosome inowanikwa mukopi imwe chete muvarume.

Mhuri mbiri huru

Kune kazhinji kune mhuri mbiri huru dzemuscular dystrophies:

- the muscular dystrophies vanoti kuzvara (DMC), iyo inoonekwa mumwedzi mitanhatu yekutanga yehupenyu. Kune anenge gumi mafomu ayo, ehukukutu hwakasiyana, kusanganisira CMD ine primary merosin kushomeka, Ullrich's CMD, stiff spine syndrome uye Walker-Warburg syndrome;

- the muscular dystrophies kuonekwa gare gare muuduku kana mukuru, semuenzaniso³ :

• Duchenne tsandanyama dystrophy
• Becker's myopathy
• Emery-Dreyfuss myopathy (kune maitiro akati wandei)
• Facioscapulo-humeral myopathy, inonziwo Landouzy-Déjerine myopathy
• Iyo myopathies yemabhanhire, yakatumidzwa kudaro, nekuti inonyanya kubata mamhasuru ari pedyo nemapfudzi uye chiuno.
• Myotonic dystrophies (mhando I uye II), kusanganisira chirwere cheSteinert. Ivo vanoratidzwa ne a myotonie, kureva kuti, mhasuru dzinotadza kugadzika zvakanaka mushure mekudhonzwa.
• Oculopharyngeal myopathy

kushanduka

Iko kushanduka kwe muscular dystrophies inosiyana zvakanyanya kubva kune imwe chimiro kuenda kune imwe, asiwo kubva kune mumwe munhu kuenda kune mumwe. Mamwe mafomu anoshanduka nekukurumidza, zvichitungamira mukurasikirwa kwekutanga kwekufamba uye kufamba uye dzimwe nguva zvinouraya moyo kana matambudziko ekufema, nepo mamwe anoshanduka zvishoma nezvishoma kwemakumi emakore. Zvizhinji zve congenital muscular dystrophies, somuenzaniso, hazvina kufambira mberi zvishoma kana kuti hazvina, kunyange zviratidzo zvingava zvakanyanya pakarepo.³.

Matambudziko

Matambudziko anosiyana zvakanyanya zvichienderana nerudzi rwemuscular dystrophy. Mamwe dystrophies anogona kukanganisa mhasuru dzekufema kana moyo, dzimwe nguva nemhedzisiro yakakomba.

Nokudaro, matambudziko emoyo zvinowanzoitika, kunyanya kuvakomana vane Duchenne tsandanyama dystrophy.

Mukuwedzera, the kuderera kwemhasuru inoita kuti muviri nemajoini zviparare zvishoma nezvishoma: vanorwara vanogona kutambura nescoliosis. Kupfupika kwemhasuru nematendon kunowanzoonekwa, zvichikonzera tsandanyama retractions (kana tendons). Uku kurwiswa kwakasiyana-siyana kunoguma nekuremara kwemajoini: tsoka nemaoko zvinotenderedzwa mukati nekudzika, mabvi kana magokora akaremara ...

Pakupedzisira, zvakajairika kuti chirwere ichi chiperekedzwe kuzvidya mwoyo kana kuora mwoyo izvo zvinoda kutarisirwa.