The dystrophies ea mesifa e lumellana le lelapa la mafu a mesifa a khetholloang ke bofokoli le ho fokotseha ho tsoelang pele ha mesifa: likhoele tsa mesifa ea 'mele lia senyeha. Mesifa e fokotseha butle-butle, ke hore, e lahleheloa ke molumo oa eona, kahoo matla a eona.

Tsena ke mafu a pele liphatsa tsa lefutso e ka hlahang lilemong life kapa life: ho tloha tsoalong, bongoaneng kapa boholeng. Ho na le mefuta e fetang 30 e fapaneng le lilemo tsa ho qala ha matšoao, mofuta oa mesifa e amehang le ho tiea. Li-dystrophies tse ngata tsa mesifa li ntse li mpefala butle-butle. Hajoale, ha ho na pheko. Tse tsebahalang ka ho fetisisa le tse atileng haholo tsa mesifa ea mesifa ke Duchenne mesifa dystrophy, eo hape e bitsoang "Duchenne muscular dystrophy".

Ka lefu la mesifa, mesifa e amehang ka har'a mesifa ea mesifa ke haholo-holo e lumellang ho metsamao ya boithaopo, haholoholo mesifa, lirope, maoto, matsoho le matsoho a pele. Li-dystrophies tse ling, mesifa ea ho hema le pelo li ka ameha. Batho ba nang le lefu la ho fokola ha mesifa butle-butle ba ka lahleheloa ke ho tsamaea ha bona ha ba tsamaea. Matšoao a mang a ka amahanngoa le bofokoli ba mesifa, haholo-holo pelo, mala, mathata a mahlo, joalo-joalo.

Ho ata

The dystrophies ea mesifa ke har'a mafu a sa tloaelehang le a likhutsana. Ho thata ho tseba makhetlo a tobileng, kaha e kopanya maloetse a sa tšoaneng. Liphuputso tse ling li hakanya hore motho a le mong ho ba 1 o na le eona.

Etsoe exemple:

• La myopathy duchenne¹ duchenne¹e ama moshanyana a le mong ho ba 3500.
• Becker's muscular dystrophy e ama moshanyana a le mong ho ba 1²,
• Facioscapulohumeral dystrophy e ama motho a le 1 ho ba 20.
• Lefu la Emery-Dreifuss, e ama 1 ho batho ba 300 mme e baka ho hoheloa ha tendon le ho senyeha ha mesifa ea pelo

Li-dystrophies tse ling tsa mesifa li atile haholo libakeng tse ling tsa lefats'e. Ka hona: 

• Se bitsoang Fukuyama congenital myopathy haholo-holo se ama Japane.
• Quebec, ka lehlakoreng le leng, ho joalo lefu la oculopharyngeal muscular dystrophy e laolang (nyeoe e le 'ngoe ho motho a le mong), athe e sa tloaeleha lefatšeng ka bophara (ka karolelano, linyeoe tse 1 ho a le mong¹) Joalokaha lebitso le bolela, lefu lena le ama haholo-holo mesifa ea mahlo a mahlo le 'metso.
• Ka lehlakoreng la eona, Lefu la Steinert kapa “Steinert's myotonia”, e atile haholo sebakeng sa Saguenay-Lac St-Jean, moo e amang motho a le mong ho ba 1.
• The lefu la sarcoglycanopathies li atile haholo Afrika Leboea ’me li ama motho a le mong ho ba 200 ka leboea-bochabela ho Italy.
• Calpainopathy li qalile ho hlalosoa Reunion Island. Motho a le mong ho ba 200 o amehile.

Lisosa

The dystrophies ea mesifa ke mafu a lefutso, ke hore li bakoa ke ho se tloaelehe (kapa phetoho) ea liphatsa tsa lefutso tse hlokahalang bakeng sa ho sebetsa hantle ha mesifa kapa tsoelo-pele ea bona. Ha liphatsa tsa lefutso tsena li fetoha, mesifa ha e sa khona ho kopana ka tsela e tloaelehileng, e lahleheloa ke matla le ho fokola ha eona.

Liphatsa tsa lefutso tse 'maloa tse fapaneng li ameha ho dystrophies ea mesifa. Hangata, tsena ke liphatsa tsa lefutso tse "etsang" liprotheine tse ka har'a lera la lisele tsa mesifa.³.

Etsoe exemple:

• Duchenne muscular dystrophy myopathy e amahanngoa le khaello ea dystrophine, protheine e ka tlas'a lera la lisele tsa mesifa le e phethang karolo ea ho honyela ha mesifa.
• Hoo e ka bang halofo ea congenital muscular dystrophies (e hlahang nakong ea tsoalo), ke khaello ea merosine, e leng karolo ea lera la lisele tsa mesifa, le amehang.

Joaloka ba bangata mafu a lefutso, hangata li-muscular dystrophies li fetisetsoa ke batsoali ho bana ba bona. Hangata, li ka boela tsa "hlaha" ka tšohanyetso, ha liphatsa tsa lefutso li fetoha ka phoso. Tabeng ena, lefutso la lefu lena ha le eo ho batsoali kapa litho tse ling tsa lelapa.

Boholo ba nako, faele ea ho senyeha ha mesifa e fetisoa ka tsela e itseng recessive. Ka mantsoe a mang, e le hore lefu lena le bonahatsoe, batsoali ka bobeli e lokela ho ba bajari ’me ba fetisetse lefutso le sa tloaelehang ho ngoana. Empa lefu lena ha le iponahatse ho batsoali, kaha e mong le e mong o na le liphatsa tsa lefutso tse sa tloaelehang tsa botsoali eseng tse peli tse sa tloaelehang tsa botsoali. Leha ho le joalo, liphatsa tsa lefutso tse tloaelehileng li lekane hore mesifa e sebetse ka mokhoa o tloaelehileng.

Ho feta moo, li-dystrophies tse ling li ama feela bashanyana ba : ho joalo ka Duchenne muscular dystrophy le Becker's muscular dystrophy. Maemong ana ka bobeli, lefutso le amehang mafung ana a mabeli le ho chromosome ea X e teng ka kopi e le 'ngoe ho banna.

Malapa a mabeli a maholo

Ka kakaretso ho na le malapa a mabeli a ka sehloohong a dystrophies ea mesifa:

- the dystrophies ea mesifa re tsoalo (DMC), e hlahang likhoeling tse 6 tsa pele tsa bophelo. Ho na le mefuta e ka bang leshome ea eona, ea boima bo fapaneng, ho kenyelletsa le CMD e nang le khaello ea mantlha ea merosin, Ullrich's CMD, stiff spine syndrome le Walker-Warburg syndrome;

- the dystrophies ea mesifa hlaha hamorao bongoaneng kapa boholeng, e le mehlala³ :

• Duchenne mesifa dystrophy
• Myopathy ea Becker
• Emery-Dreyfuss myopathy (ho na le mefuta e mengata)
• Facioscapulo-humeral myopathy, eo hape e bitsoang Landouzy-Déjerine myopathy
• Li-myopathies tsa mabanta, tse bitsoang joalo, hobane li ama haholo mesifa e haufi le mahetla le letheka.
• Myotonic dystrophies (mefuta ea I le II), ho kenyelletsa lefu la Steinert. Li tšoauoa ka a myotonie, ke hore, mesifa e hlōleha ho phutholoha ka mokhoa o tloaelehileng ka mor'a ho khitla.
• Oculopharyngeal myopathy

ho iphetola ha lintho

Ho iphetola hoa dystrophies ea mesifa e fapane haholo ho tloha ho mofuta o mong ho ea ho o mong, empa hape ho tloha ho motho e mong ho ea ho o mong. Mefuta e meng e fetoha ka potlako, e lebisang ho lahleheloeng ke mokhoa oa ho tsamaea le ho tsamaea 'me ka linako tse ling mathata a bolaeang a pelo kapa a ho hema, athe a mang a fetoha butle haholo ka lilemo tse mashome. Ka mohlala, boholo ba congenital muscular dystrophies ha bo tsoele pele ho hang, le hoja matšoao a ka ba matla hang-hang.³.

Mathata

Mathata a fapana haholo ho latela mofuta oa lefu la mesifa. Li-dystrophies tse ling li ka ama mesifa ea ho hema kapa pelo, ka linako tse ling ka liphello tse tebileng haholo.

Kahoo, mathata a pelo li atile haholo, haholo ho bashanyana ba nang le Duchenne muscular dystrophy.

Ho phaella moo, e ho senyeha ha mesifa e etsa hore 'mele le manonyeletso a holofale hanyane ka hanyane: bakuli ba ka tšoaroa ke scoliosis. Ho khutsufatsoa ha mesifa le li-tendon ho bonoa khafetsa, ho fella ka ho hula ha mesifa (kapa tendon). Litlhaselo tsena tse fapa-fapaneng li baka ho holofala ha manonyeletso: maoto le matsoho a fetohela ka hare le tlase, mangole kapa litsoe li holofetse ...

Qetellong, ho tloaelehile hore lefu lena le tsamaee le matšoenyeho kapa khatello ea maikutlo tse hlokang ho hlokomeloa.