The ama-dystrophies emisipha zihambisana nomndeni wezifo ze-muscular ezibonakala ngobuthakathaka kanye nokuwohloka kwemisipha okuqhubekayo: imicu yemisipha yomzimba iyawohloka. Imisipha kancane kancane i-atrophy, okungukuthi, ilahlekelwa umthamo wayo futhi ngenxa yalokho amandla ayo.

Yilokho izifo Original ngokushintsha izakhi zofuzo engavela kunoma iyiphi iminyaka: kusukela ekuzalweni, ebuntwaneni noma ngisho nasebudaleni. Kunezinhlobo ezingaphezu kuka-30 ezihlukile eminyakeni yokuqala kwezimpawu, ubunjalo bemisipha ethintekile kanye nobukhulu. Iningi lama-dystrophies emisipha liya liba libi kakhulu. Okwamanje, alikho ikhambi okwamanje. Okuyaziwa kakhulu futhi okuvame kakhulu kwe-muscular dystrophies yi I-Duchenne muscular dystrophy, ebizwa nangokuthi "i-Duchenne muscular dystrophy".

Ku-muscular dystrophy, imisipha ethintekayo ku-muscular dystrophy ikakhulukazi lezo ezivumela ukunyakaza kokuzithandela, ikakhulukazi imisipha, amathanga, imilenze, izingalo nezingalo. Kwezinye i-dystrophies, imisipha yokuphefumula nenhliziyo ingathinteka. Abantu abane-muscular dystrophy bangase balahlekelwe ukuhamba kwabo kancane kancane lapho behamba. Ezinye izimpawu zingahlotshaniswa nobuthakathaka bemisipha, ikakhulukazi inhliziyo, ithumbu, izinkinga zamehlo, njll.

Ukuvama

The ama-dystrophies emisipha ziphakathi kwezifo ezingavamile nezintandane. Kunzima ukwazi imvamisa eqondile, ngoba ihlanganisa izifo ezahlukahlukene. Olunye ucwaningo lulinganisela ukuthi cishe umuntu oyedwa kwaba-1 unaso.

For exemple:

• La i-myopathy duchenne¹ duchenne¹ithinta cishe umfana oyedwa kwabangu-3500.
• I-Becker's muscular dystrophy ithinta umfana oyedwa kwabangu-1²,
• I-facioscapulohumeral dystrophy ithinta cishe umuntu oyedwa kwabangu-1.
• Isifo sika-Emery-Dreifuss, kuthinta i-1 kubantu be-300 futhi kubangela ukuhlehla kwe-tendon nokulimala kwemisipha yenhliziyo

Amanye ama-muscular dystrophies avame kakhulu ezindaweni ezithile zomhlaba. Ngalokho : 

• Okubizwa nge-Fukuyama congenital myopathy ikakhulukazi kuthinta i-Japan.
• EQuebec, ngakolunye uhlangothi, kunjalo i-oculopharyngeal muscular dystrophy elibusayo (icala eli-1 ngomuntu oyedwa), kuyilapho liyivelakancane emhlabeni wonke (icala elingu-1 ngo-000 ngamunye ngokwesilinganiso¹) Njengoba igama libonisa, lesi sifo sithinta kakhulu imisipha yamajwabu amehlo nomphimbo.
• Ngokwengxenye yayo, Isifo sikaSteinert noma i-“Steinert's myotonia”, ivame kakhulu endaweni yase-Saguenay-Lac St-Jean, lapho ihlasela cishe umuntu oyedwa kwabangama-1.
• The i-sarcoglycanopathies zivame kakhulu eNyakatho Afrika futhi zithinta umuntu oyedwa kwabangama-200 enyakatho-mpumalanga ye-Italy.
• I-Calpainopathy zachazwa okokuqala eReunion Island. Umuntu oyedwa kwabangama-200 uyathinteka.

Izimbangela

The ama-dystrophies emisipha kukhona izifo zofuzo, okusho ukuthi kungenxa ye-anomaly (noma ukuguqulwa) kofuzo oludingekayo ekusebenzeni kahle kwemisipha noma ukukhula kwayo. Uma lesi sakhi sofuzo siguqulwa, imisipha ayikwazi ukugoqa ngokujwayelekile, ilahlekelwa amandla kanye ne-atrophy.

Izakhi zofuzo eziningana ezihlukene zihilelekile ku-muscular dystrophies. Imvamisa, lezi yizakhi zofuzo "enza" amaprotheni atholakala kulwelwesi lwamaseli emisipha.³.

For exemple:

• I-Duchenne muscular dystrophy myopathy ihlotshaniswa nokuntuleka kwe-in i-dystrophine, iphrotheni etholakala ngaphansi kolwelwesi lwamaseli emisipha futhi edlala indima ekufinyezweni kwemisipha.
• Cishe uhhafu we-congenital muscular dystrophies (evela ngesikhathi sokuzalwa), kuwukuntula i-merosine, okuyingxenye yolwelwesi lwamangqamuzana emisipha, oluhilelekile.

Njengabaningi izifo zofuzo, i-muscular dystrophies ivame ukudluliselwa abazali kubantwana babo. Kuyaqabukela, futhi "zingavela" ngokuzenzakalelayo, lapho isakhi sofuzo siguquka ngephutha. Kulokhu, isakhi sofuzo esinesifo asikho kubazali noma kwamanye amalungu omndeni.

Isikhathi esiningi, i- ukuqina kwemisipha idluliselwa ngendlela ngokweqile. Ngamanye amazwi, ukuze lesi sifo sivezwe, bobabili abazali kumelwe babe abathwali futhi badlulisele isakhi sofuzo esingajwayelekile enganeni. Kodwa lesi sifo asizivezi kubazali, njengoba ngamunye uphethe isakhi sofuzo somzali esisodwa esingajwayelekile hhayi izakhi zofuzo ezimbili ezingavamile. Nokho, isakhi sofuzo esisodwa esivamile sanele ukuze imisipha isebenze ngendlela evamile.

Ngaphezu kwalokho, amanye ama-dystrophies athinta kuphela izicubu abafana : lokhu kunjalo nge-Duchenne muscular dystrophy kanye ne-Becker's muscular dystrophy. Kuzo zombili izimo, isakhi sofuzo esihilelekile kulezi zifo ezimbili sitholakala ku-X chromosome ekhona ekhophini eyodwa kwabesilisa.

Imindeni emibili emikhulu

Ngokuvamile kunemindeni emibili eyinhloko ye-muscular dystrophies:

- the ama-dystrophies emisipha uthi ukuzalwa (DMC), evela ezinyangeni eziyisi-6 zokuqala zokuphila. Kukhona cishe izinhlobo eziyishumi zayo, ezinobunzima obuhlukahlukene, okuhlanganisa i-CMD enokuntuleka kwe-merosin eyinhloko, i-Ullrich's CMD, i-stiff spine syndrome kanye nesifo se-Walker-Warburg;

- the ama-dystrophies emisipha avele kamuva ebuntwaneni noma ebudaleni, njengezibonelo³ :

• I-Duchenne muscular dystrophy
• I-myopathy ye-Becker
• I-Emery-Dreyfuss myopathy (kunezindlela eziningana)
• I-Facioscapulo-humeral myopathy, ebizwa nangokuthi i-Landouzy-Déjerine myopathy
• I-myopathies yamabhande, ebizwa kanjalo, ngoba ithinta kakhulu imisipha etholakala emahlombe nasezinqulwini.
• I-Myotonic Dystrophies (izinhlobo I no-II), kuhlanganise nesifo sika-Steinert. Babonakala ngokuthi a i-myotonie, okungukuthi, izicubu ziyehluleka ukukhululeka ngokujwayelekile ngemva kokufinyela.
• I-Oculopharyngeal myopathy

Evolution

Ukuvela kwe ama-dystrophies emisipha kuyahlukahluka kakhulu kusuka kwesinye isimo kuye kwesinye, kodwa futhi kusuka kumuntu oyedwa kuya kwesinye. Ezinye izinhlobo ziguquka ngokushesha, okuholela ekulahlekeni kokuhamba nokuhamba futhi kwesinye isikhathi izinkinga ezibulalayo zenhliziyo noma zokuphefumula, kanti ezinye zivela kancane kancane emashumini eminyaka. Iningi le-congenital muscular dystrophies, ngokwesibonelo, linenqubekela phambili encane noma ayinalo nhlobo, nakuba izimpawu zingaba zimbi ngokushesha.³.

Izinkinga

Izinkinga ziyahlukahluka kuye ngohlobo lwe-muscular dystrophy. Amanye ama-dystrophies angathinta imisipha yokuphefumula noma inhliziyo, ngezinye izikhathi kube nemiphumela emibi kakhulu.

Ngakho, izinkinga zenhliziyo zivame kakhulu, ikakhulukazi kubafana abane-Duchenne muscular dystrophy.

Ngaphezu kwalokho, lo ukuwohloka kwemisipha kubangela ukuthi umzimba namalunga abonakele kancane kancane: abagulayo bangaphathwa yi-scoliosis. Ukuncipha kwemisipha namathenda kuvame ukubonwa, okuholela ekutheni ukuhlehla kwemisipha (noma imisipha). Lokhu kuhlasela okuhlukahlukene kubangela ukukhubazeka kwamalunga: izinyawo nezandla zijikelwa ngaphakathi naphansi, amadolo noma izindololwane zikhubazekile ...

Okokugcina, kuvamile ukuthi lesi sifo sihambisane ukukhathazeka noma iziyaluyalu zokucindezeleka okudingeka ukunakekelwa.