Dysthrophy Muscular Progressive EDIT 2

8/9/2019 Dysthrophy Muscular Progressive EDIT 2

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MuscularMuscularDystrophy Dystrophy

RUDY HANDOYORUDY HANDOYO

REHABILITASI MEDIKREHABILITASI MEDIKFK UNDIP/RS Dr KARIADIFK UNDIP/RS Dr KARIADI


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IntroductionIntroduction Muscular dystro !"#s ar# $#%#t"c d"sord#rsMuscular dystro !"#s ar# $#%#t"c d"sord#rs

c!aract#r"d 'y ro$r#ss"(# )uscl# *ast"%$ a%dc!aract#r"d 'y ro$r#ss"(# )uscl# *ast"%$ a%d*#a+%#ss t!at '#$"% *"t! )"crosco "c c!a%$#s "%*#a+%#ss t!at '#$"% *"t! )"crosco "c c!a%$#s "%t!# )uscl#,t!# )uscl#,

As )uscl#s d#$#%#rat# o(#r t")#- t!# #rso%.s As )uscl#s d#$#%#rat# o(#r t")#- t!# #rso%.s)uscl# str#%$t! d#cl"%#s- c!aract#r"d 'y ra "dly)uscl# str#%$t! d#cl"%#s- c!aract#r"d 'y ra "dlyro$r#ss"(# )uscl# *#a+%#ss *!"c! starts "% t!#ro$r#ss"(# )uscl# *#a+%#ss *!"c! starts "% t!#

l#$s a%d #l("s a%d lat#r a #cts t!# *!ol# 'ody,l#$s a%d #l("s a%d lat#r a #cts t!# *!ol# 'ody, Duchenne muscular dystrophy (DMD) Duchenne muscular dystrophy (DMD) *as 0rst*as 0rst

d#scr"'#d 'y t!# Fr#%c! %#urolo$"st 1u"llau)#d#scr"'#d 'y t!# Fr#%c! %#urolo$"st 1u"llau)#B#%2a)"% A)a%d Duc!#%%# "% t!# 3456s,B#%2a)"% A)a%d Duc!#%%# "% t!# 3456s,

Becker muscular dystrophy (BMD) Becker muscular dystrophy (BMD) "s %a)#d a7t#r"s %a)#d a7t#rt!# 1#r)a% doctor P#t#r E)"l B#c+#r- *!o 0rstt!# 1#r)a% doctor P#t#r E)"l B#c+#r- *!o 0rstd#scr"'#d t!"s (ar"a%t o7 DMD "% t!# 3896s,d#scr"'#d t!"s (ar"a%t o7 DMD "% t!# 3896s,


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IntroductionIntroduction Alt!ou$! t!# d"s#as# "s r#s#%t 7ro) Alt!ou$! t!# d"s#as# "s r#s#%t 7ro)

co%c# t"o%- sy) to)s usually do %ot d#(#loco%c# t"o%- sy) to)s usually do %ot d#(#lou%t"l t!# c!"ld "s 0(# or s": y#ars old- or #(#% au%t"l t!# c!"ld "s 0(# or s": y#ars old- or #(#% a

y#ar or t*o lat#r, y#ar or t*o lat#r,

By t!# #arly t##%s or #(#% #arl"#r- t!# 'oy.sBy t!# #arly t##%s or #(#% #arl"#r- t!# 'oy.s!#art a%d r#s "ratory )uscl#s )ay also '#!#art a%d r#s "ratory )uscl#s )ay also '#a #ct#d,a #ct#d,

I% t!# lat# sta$#s o7 )uscular dystro !y- 7at a%dI% t!# lat# sta$#s o7 )uscular dystro !y- 7at a%dco%%#ct"(# t"ssu# o7t#% r# lac# )uscl# 0'#rs,co%%#ct"(# t"ssu# o7t#% r# lac# )uscl# 0'#rs,

T!# )ost co))o% )uscular dystro !"#s a #arT!# )ost co))o% )uscular dystro !"#s a #arto '# du# to a $#%#t"c d#0c"#%cy o7 t!# )uscl#to '# du# to a $#%#t"c d#0c"#%cy o7 t!# )uscl#rot#"% dystro !"%,rot#"% dystro !"%,

T!#r#.s %o cur#- 'ut )#d"cat"o%s a%d t!#ra yT!#r#.s %o cur#- 'ut )#d"cat"o%s a%d t!#ra yca% slo* t!# cours# o7 t!# d"s#as#,ca% slo* t!# cours# o7 t!# d"s#as#,


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;AUSES;AUSES T!# d#7#ct"(# $#%# t!at caus#s Duc!#%%#.s a%dT!# d#7#ct"(# $#%# t!at caus#s Duc!#%%#.s a%d

B#c+#r.s )uscular dystro !"#s "s locat#d o% t!#B#c+#r.s )uscular dystro !"#s "s locat#d o% t!#


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;AUSES;AUSES Myoto%"c dystro !y "s ass#d alo%$ "% a att#r%Myoto%"c dystro !y "s ass#d alo%$ "% a att#r%

call#d autoso)al do)"%a%t "%!#r"ta%c#,call#d autoso)al do)"%a%t "%!#r"ta%c#, I7 #"t!#r ar#%t carr"#s t!# d#7#ct"(# $#%# 7orI7 #"t!#r ar#%t carr"#s t!# d#7#ct"(# $#%# 7or

)yoto%"c dystro !y- t!#r#.s a 96 #rc#%t c!a%c#)yoto%"c dystro !y- t!#r#.s a 96 #rc#%t c!a%c#t!# d"sord#r *"ll '# ass#d alo%$ to a c!"ld,t!# d"sord#r *"ll '# ass#d alo%$ to a c!"ld, Ot!#r ty #s o7 )uscular dystro !y ca% '#Ot!#r ty #s o7 )uscular dystro !y ca% '#

ass#d o% 7ro) $#%#rat"o% to $#%#rat"o% a%dass#d o% 7ro) $#%#rat"o% to $#%#rat"o% a%d

a #ct )al#s a%d 7#)al#s #@ually,a #ct )al#s a%d 7#)al#s #@ually,

St"ll ot!#rs r#@u"r# a d#7#ct"(# $#%# 7ro) 'ot!St"ll ot!#rs r#@u"r# a d#7#ct"(# $#%# 7ro) 'ot!ar#%ts,ar#%ts,


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;AUSES;AUSES

Dystro !"% "s local"d to t!#Dystro !"% "s local"d to t!#sarcol#))al )#)'ra%# o7 t!# )uscl#ssarcol#))al )#)'ra%# o7 t!# )uscl#sc#lls a%d t!# a's#%c# allo*s "%cr#as#dc#lls a%d t!# a's#%c# allo*s "%cr#as#d

#r)#a'"l"ty o7 t!# c#ll#r)#a'"l"ty o7 t!# c#ll B#caus# s#(#ral lyt"c #%&y)#s *"t!"% t!#B#caus# s#(#ral lyt"c #%&y)#s *"t!"% t!#)uscl#s c#ll ar# act"(at#d 'y calc"u)- "t "s)uscl#s c#ll ar# act"(at#d 'y calc"u)- "t "s%o* !y ot!#s"d t!at %#cros"s )ay '#%o* !y ot!#s"d t!at %#cros"s )ay '#

du# to a% u%co%troll#d r"s# o7 calc"u)du# to a% u%co%troll#d r"s# o7 calc"u)co%c#%trat"o% "% t!# c#ll t!#r#'yco%c#%trat"o% "% t!# c#ll t!#r#'yact"(at"%$ rot#olyt"c #%&y)#s l#ad"%$ toact"(at"%$ rot#olyt"c #%&y)#s l#ad"%$ toc#ll d#struct"o%c#ll d#struct"o%


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X-Linked Recessive GeneticX-Linked Recessive GeneticDefectsDefects

F#)al#s )ay $#t t!# d#7#ct"(# $#%# #"t!#r 7ro) !#rF#)al#s )ay $#t t!# d#7#ct"(# $#%# #"t!#r 7ro) !#r)ot!#r.s d#7#ct"(#


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X-Linked Recessive GeneticX-Linked Recessive GeneticDefects - How Boys areDefects - How Boys are

A ected A ected


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X-Linked Recessive GeneticX-Linked Recessive GeneticDefects - How Girls areDefects - How Girls are

A ected A ected


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A )a% *"t! DMD or BMD ca%.t ass t!# A )a% *"t! DMD or BMD ca%.t ass t!#a*#d $#%# to !"s so%s '#caus# !# $"(#sa*#d $#%# to !"s so%s '#caus# !# $"(#s

a so% a Y c!ro)oso)#- %ot a%


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How can a fa!ily with no history ofHow can a fa!ily with no history ofDMD or BMD suddenly produce a sonDMD or BMD suddenly produce a son

with the disease" with the disease"

T!#r# ar# t*o oss"'l# #: la%at"o%sCT!#r# ar# t*o oss"'l# #: la%at"o%sCT!# $#%#t"c )utat"o% l#ad"%$ to DMD orT!# $#%#t"c )utat"o% l#ad"%$ to DMD orBMD )ay !a(# #:"st#d "% t!# 7#)al#s o7 aBMD )ay !a(# #:"st#d "% t!# 7#)al#s o7 a7a)"ly 7or so)# $#%#rat"o%s *"t!out a%yo%#7a)"ly 7or so)# $#%#rat"o%s *"t!out a%yo%#+%o*"%$ "t, P#r!a s %o )al# c!"ldr#% *#r#+%o*"%$ "t, P#r!a s %o )al# c!"ldr#% *#r#'or% *"t! t!# d"s#as#- or- #(#% "7 a 'oy "% a%'or% *"t! t!# d"s#as#- or- #(#% "7 a 'oy "% a%#arl"#r $#%#rat"o% *as a #ct#d- r#lat"(#s#arl"#r $#%#rat"o% *as a #ct#d- r#lat"(#s)ay %ot !a(# +%o*% *!at d"s#as# !# !ad,)ay %ot !a(# +%o*% *!at d"s#as# !# !ad,

T!# s#co%d oss"'"l"ty "s t!at t!# c!"ld *"t!T!# s#co%d oss"'"l"ty "s t!at t!# c!"ld *"t!DMD or BMD !as a 'ra%d %#* $#%#t"cDMD or BMD !as a 'ra%d %#* $#%#t"c)utat"o% t!at aros# dur"%$ !"s d#(#lo )#%t)utat"o% t!at aros# dur"%$ !"s d#(#lo )#%tas a 7#tus,as a 7#tus,


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FEMALES AND DMDFEMALES AND DMD>!y do%.t $"rls $#t DMD or BMDG>!y do%.t $"rls $#t DMD or BMDG >!#% a $"rl "%!#r"ts t!# DMD $#%# 7ro) !#r )ot!#r->!#% a $"rl "%!#r"ts t!# DMD $#%# 7ro) !#r )ot!#r-

s!# usually also $#ts a !#alt!y dystro !"% $#%# 7ro)s!# usually also $#ts a !#alt!y dystro !"% $#%# 7ro)!#r 7at!#r- $"("%$ !#r #%ou$! o7 t!# rot#"% to rot#ct!#r 7at!#r- $"("%$ !#r #%ou$! o7 t!# rot#"% to rot#ct!#r 7ro) t!# d"s#as#,!#r 7ro) t!# d"s#as#,

Mal#s *!o "%!#r"t t!# )utat"o% $#t t!# d"s#as# '#caus#Mal#s *!o "%!#r"t t!# )utat"o% $#t t!# d"s#as# '#caus#t!#y !a(# %o s#co%d dystro !"% $#%# to )a+# u 7or t!#t!#y !a(# %o s#co%d dystro !"% $#%# to )a+# u 7or t!#7aulty o%#,7aulty o%#,

Ho*#(#r- alt!ou$! $"rls do%.t usually $#t t!# 7ull # #ctsHo*#(#r- alt!ou$! $"rls do%.t usually $#t t!# 7ull # #ctso7 DMD or BMD- so)# 7#)al#s *"t! t!# $#%# a* ar#o7 DMD or BMD- so)# 7#)al#s *"t! t!# $#%# a* ar#so)#*!at a #ct#d,so)#*!at a #ct#d,

A )"%or"ty o7 7#)al#s *"t! t!# )utat"o% ar# )a%"7#st"%$ A )"%or"ty o7 7#)al#s *"t! t!# )utat"o% ar# )a%"7#st"%$carr"#rs- *!o !a(# a )"ld 7or) o7 t!# d"sord#r,carr"#rs- *!o !a(# a )"ld 7or) o7 t!# d"sord#r,


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FEMALES AND DMDFEMALES AND DMD For t!#s# *o)#%- t!# dystro !"% d#0c"#%cy )ayFor t!#s# *o)#%- t!# dystro !"% d#0c"#%cy )ay

r#sult "% *#a+#r )uscl#s "% t!# 'ac+- l#$s a%dr#sult "% *#a+#r )uscl#s "% t!# 'ac+- l#$s a%dar)s t!at 7at"$u# #as"ly,ar)s t!at 7at"$u# #as"ly,

Ma%"7#st"%$ carr"#rs )ay !a(# !#art ro'l#)s-Ma%"7#st"%$ carr"#rs )ay !a(# !#art ro'l#)s-

*!"c! ca% '# )a%"7#st#d as s!ort%#ss o7 'r#at!*!"c! ca% '# )a%"7#st#d as s!ort%#ss o7 'r#at!or "%a'"l"ty to do )od#rat# #:#rc"s#, T!# !#artor "%a'"l"ty to do )od#rat# #:#rc"s#, T!# !#artro'l#)s- "7 u%tr#at#d- ca% '# @u"t# s#r"ous- #(#%ro'l#)s- "7 u%tr#at#d- ca% '# @u"t# s#r"ous- #(#%

l"7#=t!r#at#%"%$,l"7#=t!r#at#%"%$, It.s *"s# 7or a%y ot#%t"al 7#)al# carr"#r o7 DMDIt.s *"s# 7or a%y ot#%t"al 7#)al# carr"#r o7 DMD

or BMD to $#t a 7ull ra%$# o7 d"a$%ost"c t#sts toor BMD to $#t a 7ull ra%$# o7 d"a$%ost"c t#sts to0%d out !#r status, T!#%- "7 s!# "s a carr"#r-0%d out !#r status, T!#%- "7 s!# "s a carr"#r-r#$ular str#%$t! #(aluat"o%s a%d clos# card"acr#$ular str#%$t! #(aluat"o%s a%d clos# card"ac)o%"tor"%$ ca% !#l !#r )a%a$# a%y sy) to)s)o%"tor"%$ ca% !#l !#r )a%a$# a%y sy) to)st!at )ay ar"s#,t!at )ay ar"s#,


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#ype of !uscular#ype of !uscular

dystrophy dystrophy T!# ty #s o7 )uscular dystro !y t!at ar#T!# ty #s o7 )uscular dystro !y t!at ar#du# to a $#%#t"c d#0c"#%cy o7 t!# rot#"%du# to a $#%#t"c d#0c"#%cy o7 t!# rot#"%dystro !"% ar# call#d dystro !"%o at!"#s,dystro !"% ar# call#d dystro !"%o at!"#s,

Duchenne$s !uscular dystrophy isDuchenne$s !uscular dystrophy isthe !ost severe for! ofthe !ost severe for! ofdystrophinopathy%dystrophinopathy%

It occurs )ostly "% you%$ 'oys a%d "s t!#It occurs )ostly "% you%$ 'oys a%d "s t!#)ost co))o% 7or) o7 MD t!at a #cts)ost co))o% 7or) o7 MD t!at a #ctsc!"ldr#%,c!"ldr#%,


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dystrophy dystrophy Becker$s !uscular dystrophy Becker$s !uscular dystrophy T!"s ty # o7 )uscular dystro !y "s a )"ld#rT!"s ty # o7 )uscular dystro !y "s a )"ld#r

7or) o7 dystro !"%o at!y,7or) o7 dystro !"%o at!y,

It $#%#rally a #cts old#r 'oys a%d you%$It $#%#rally a #cts old#r 'oys a%d you%$)#%- a%d ro$r#ss#s )or# slo*lyusually)#%- a%d ro$r#ss#s )or# slo*ly- usuallyo(#r s#(#ral d#cad#s,o(#r s#(#ral d#cad#s,

S"$%s a%d sy) to)s o7 B#c+#r.s MD ar#S"$%s a%d sy) to)s o7 B#c+#r.s MD ar#s")"lar to t!os# o7 Duc!#%%#.s,s")"lar to t!os# o7 Duc!#%%#.s,

T!# o%s#t o7 t!# s"$%s a%d sy) to)s "sT!# o%s#t o7 t!# s"$%s a%d sy) to)s "s$#%#rally lat#r- 7ro) a$# to 35,$#%#rally lat#r- 7ro) a$# to 35,


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dystrophy dystrophy Myotonic dystrophy &'teinert$s disease(Myotonic dystrophy &'teinert$s disease( Produc#s st" %#ss o7 )uscl#s a%d a% "%a'"l"ty to r#la: )uscl#s at *"llProduc#s st" %#ss o7 )uscl#s a%d a% "%a'"l"ty to r#la: )uscl#s at *"ll)yoto%"a a%d "s 7ou%d o%ly "% t!"s ty # o7 )uscular dystro !y, Muscl#s)yoto%"a a%d "s 7ou%d o%ly "% t!"s ty # o7 )uscular dystro !y, Muscl#s

)ay 7##l st" a7t#r us"%$ t!#), Pro$r#ss"o% o7 t!"s 7or) o7 MD "s slo*)ay 7##l st" a7t#r us"%$ t!#), Pro$r#ss"o% o7 t!"s 7or) o7 MD "s slo* ,, Ot!#rs s"$%s a%d sy) to)s adult=o%s#t )yoto%"c dystro !y COt!#rs s"$%s a%d sy) to)s adult=o%s#t )yoto%"c dystro !y C

>#a+#%"%$ o7 (olu%tary )uscl#s- usually '#$"%%"%$ *"t! t!# l")' )uscl#s>#a+#%"%$ o7 (olu%tary )uscl#s- usually '#$"%%"%$ *"t! t!# l")' )uscl#s7art!#st 7ro) t!# torso J t!# )uscl#s o7 t!# 7##t- !a%ds- lo*#r l#$s a%d7art!#st 7ro) t!# torso J t!# )uscl#s o7 t!# 7##t- !a%ds- lo*#r l#$s a%d7or#ar)s,7or#ar)s,>#a+#%"%$ o7 !#ad- %#c+ a%d 7ac# )uscl#s- *!"c! )ay r#sult "% t!# 7ac# !a("%$>#a+#%"%$ o7 !#ad- %#c+ a%d 7ac# )uscl#s- *!"c! )ay r#sult "% t!# 7ac# !a("%$a !ollo*- droo #d a #ara%c#,a !ollo*- droo #d a #ara%c#,>#a+#%"%$ o7 )uscl#s "%(ol(#d "% 'r#at!"%$ a%d s*allo*"%$, >#a+#r 'r#at!"%$>#a+#%"%$ o7 )uscl#s "%(ol(#d "% 'r#at!"%$ a%d s*allo*"%$, >#a+#r 'r#at!"%$)uscl#s )ay r#sult "% l#ss o:y$#% "%ta+# a%d 7at"$u#, >#a+#r s*allo*"%$)uscl#s )ay r#sult "% l#ss o:y$#% "%ta+# a%d 7at"$u#, >#a+#r s*allo*"%$)uscl#s "%cr#as# t!# r"s+ o7 c!o+"%$,)uscl#s "%cr#as# t!# r"s+ o7 c!o+"%$,Fa"%t"%$ or d"&&"%#ss- *!"c! )ay "%d"cat# t!at t!# d"s#as# "s "%t#r7#r"%$ *"t! t!#Fa"%t"%$ or d"&&"%#ss- *!"c! )ay "%d"cat# t!at t!# d"s#as# "s "%t#r7#r"%$ *"t! t!#co%duct"o% o7 #l#ctr"cal s"$%als t!at +## t!# !#art rat# %or)al,co%duct"o% o7 #l#ctr"cal s"$%als t!at +## t!# !#art rat# %or)al,

>#a+#%"%$ o7 )uscl#s o7 !ollo* "%t#r%al or$a%s suc! as t!os# "% t!# d"$#st"(#>#a+#%"%$ o7 )uscl#s o7 !ollo* "%t#r%al or$a%s suc! as t!os# "% t!# d"$#st"(#tract ro'l#)s *"t! s*allo*"%$ as *#ll as co%st" at"o% a%d d"arr!#a a%d t!#tract ro'l#)s *"t! s*allo*"%$ as *#ll as co%st" at"o% a%d d"arr!#a a%d t!#ut#rus ro'l#)s dur"%$ c!"ld'"rt!,ut#rus ro'l#)s dur"%$ c!"ld'"rt!,D" "culty sl## "%$ *#ll at %"$!t a%d dayt")# sl## "%#ss- a%d "%a'"l"ty toD" "culty sl## "%$ *#ll at %"$!t a%d dayt")# sl## "%#ss- a%d "%a'"l"ty toco%c#%trat# '#caus# o7 t!# # #ct o7 t!# d"s#as# o% t!# 'ra"%,co%c#%trat# '#caus# o7 t!# # #ct o7 t!# d"s#as# o% t!# 'ra"%,;loud"%$ o7 t!# l#%s#s o7 t!# #y#s cataracts ,;loud"%$ o7 t!# l#%s#s o7 t!# #y#s cataracts ,M"ld d"a'#t#s,M"ld d"a'#t#s,


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dystrophy dystrophy Rar#ly- "%7a%ts !a(# t!"s 7or) o7 )uscularRar#ly- "%7a%ts !a(# t!"s 7or) o7 )usculardystro !y- "% *!"c! cas# "t.s call#ddystro !y- "% *!"c! cas# "t.s call#dcon)enital !yotonic dystrophy%con)enital !yotonic dystrophy%

T!# "%7a%t 7or) "s )or# s#(#r#- alt!ou$!T!# "%7a%t 7or) "s )or# s#(#r#- alt!ou$!"%7a%ts *"t! )yoto%"c dystro !y do%.t"%7a%ts *"t! )yoto%"c dystro !y do%.t#: #r"#%c# )yoto%"a, S"$%s "% "%7a%ts#: #r"#%c# )yoto%"a, S"$%s "% "%7a%ts"%clud#C"%clud#C

S#(#r# )uscl# *#a+%#ssS#(#r# )uscl# *#a+%#ssD" "culty suc+l"%$ a%d s*allo*"%$D" "culty suc+l"%$ a%d s*allo*"%$D" "culty 'r#at!"%$D" "culty 'r#at!"%$


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dystrophy dystrophy Li!*-)irdle !uscularLi!*-)irdle !usculardystrophy+dystrophy+

Muscl#s usually a #ct#d 0rstCMuscl#s usually a #ct#d 0rstCH" s S!ould#rsH" s S!ould#rsT!"s 7or) t!#% ro$r#ss#s to t!# ar)sT!"s 7or) t!#% ro$r#ss#s to t!# ar)sa%d l#$s- t!ou$! ro$r#ss"o% "s slo*,a%d l#$s- t!ou$! ro$r#ss"o% "s slo*,

Usually '#$"%s "% t!# t##% or #arlyUsually '#$"%s "% t!# t##% or #arlyadult y#ars,adult y#ars,

Autoso)al r#c#ss"(# Autoso)al r#c#ss"(#


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dystrophy dystrophy ,acioscapulohu!eral !uscular dystrophy ,acioscapulohu!eral !uscular dystrophy Also +%o*% as La%dou&y=D#2#r"%# d"s#as#- t!"s 7or) Also +%o*% as La%dou&y=D#2#r"%# d"s#as#- t!"s 7or)"%(ol(#s ro$r#ss"(# )uscl# *#a+%#ss- usually "% t!"s"%(ol(#s ro$r#ss"(# )uscl# *#a+%#ss- usually "% t!"sord#rCord#rC

Fac#Fac#S!ould#rsS!ould#rs

A'do)#% A'do)#%F##tF##tU #r ar)sU #r ar)sP#l("c ar#aP#l("c ar#aLo*#r ar)sLo*#r ar)s

>!#% so)#o%# *"t! 7ac"osca ulo!u)#ral MD ra"s#s !"s or>!#% so)#o%# *"t! 7ac"osca ulo!u)#ral MD ra"s#s !"s or!#r ar)s- t!# s!ould#r 'lad#s )ay st"c+ out l"+# *"%$s,!#r ar)s- t!# s!ould#r 'lad#s )ay st"c+ out l"+# *"%$s,

Pro$r#ss"o% o7 t!"s 7or) "s slo*- *"t! so)# s urts o7Pro$r#ss"o% o7 t!"s 7or) "s slo*- *"t! so)# s urts o7ra "dly "%cr#as"%$ *#a+%#ss,ra "dly "%cr#as"%$ *#a+%#ss,

O%s#t usually occurs dur"%$ t!# t##% to #arly adult y#ars,O%s#t usually occurs dur"%$ t!# t##% to #arly adult y#ars, Autoso)al do)"%a%t Autoso)al do)"%a%t


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dystrophy dystrophy on)enital !uscular dystrophy on)enital !uscular dystrophy S"$%s o7 co%$#%"tal MD )ay "%clud#CS"$%s o7 co%$#%"tal MD )ay "%clud#C

1#%#ral )uscl# *#a+%#ss1#%#ral )uscl# *#a+%#ss o"%t d#7or)"t"#s o"%t d#7or)"t"#sT!"s 7or) "s a ar#%t at '"rt! a%dT!"s 7or) "s a ar#%t at '"rt! a%d

ro$r#ss#s slo*ly,ro$r#ss#s slo*ly, A )or# s#(#r# 7or) o7 co%$#%"tal MD A )or# s#(#r# 7or) o7 co%$#%"tal MDcall#d Fu+uya)a ty # co%$#%"tal )uscularcall#d Fu+uya)a ty # co%$#%"tal )usculardystro !y- )ay "%(ol(# s#(#r# )#%tal a%ddystro !y- )ay "%(ol(# s#(#r# )#%tal a%ds ##c! ro'l#)s as *#ll as s#"&ur#ss ##c! ro'l#)s as *#ll as s#"&ur#s

Autoso)al r#c#ss"(# Autoso)al r#c#ss"(#


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dystrophy dystrophy .culopharyn)eal !uscular dystrophy .culopharyn)eal !uscular dystrophy T!# 0rst s"$% o7 t!"s ty # o7 )uscularT!# 0rst s"$% o7 t!"s ty # o7 )uscular

dystro !y "s usually droo "%$ o7 t!# #y#l"ds-dystro !y "s usually droo "%$ o7 t!# #y#l"ds-7ollo*#d 'y *#a+%#ss o7 t!# )uscl#s o7 t!#7ollo*#d 'y *#a+%#ss o7 t!# )uscl#s o7 t!##y#- 7ac# a%d t!roat- r#sult"%$ "% d" "culty#y#- 7ac# a%d t!roat- r#sult"%$ "% d" "cultys*allo*"%$,s*allo*"%$,

Pro$r#ss"o% "s slo*,Pro$r#ss"o% "s slo*, S"$%s a%d sy) to)s 0rst a #ar "%S"$%s a%d sy) to)s 0rst a #ar "%

adult!ood- usually "% a #rso%.s 6s- 96s oradult!ood- usually "% a #rso%.s 6s- 96s or56s,56s,

Autoso)al do)"%a%t Autoso)al do)"%a%t


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dystrophy dystrophy Distal !uscular dystrophy Distal !uscular dystrophy T!"s $rou "%(ol(#s t!# )uscl#s 7art!#stT!"s $rou "%(ol(#s t!# )uscl#s 7art!#st

a*ay 7ro) t!# c#%t#r o7 t!# 'ody J t!os# o7a*ay 7ro) t!# c#%t#r o7 t!# 'ody J t!os# o7

t!# !a%ds- 7or#ar)s- 7##t a%d lo*#r l#$s,t!# !a%ds- 7or#ar)s- 7##t a%d lo*#r l#$s, T!# s#(#r"ty "s $#%#rally l#ss t!a% 7or ot!#rT!# s#(#r"ty "s $#%#rally l#ss t!a% 7or ot!#r

7or)s o7 MD- a%d t!"s 7or) t#%ds to ro$r#ss7or)s o7 MD- a%d t!"s 7or) t#%ds to ro$r#ssslo*ly,slo*ly,

D"stal MD $#%#rally '#$"%s "% adult!oodD"stal MD $#%#rally '#$"%s "% adult!ood'#t*##% t!# a$#s o7 6 a%d 56,'#t*##% t!# a$#s o7 6 a%d 56,

Autoso)al do)"%a%t Autoso)al do)"%a%t


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dystrophy dystrophy /!ery-Dreifuss !uscular dystrophy /!ery-Dreifuss !uscular dystrophy T!"s rar# 7or) o7 )uscular dystro !yT!"s rar# 7or) o7 )uscular dystro !y

usually '#$"%s "% t!# )uscl#s o7 t!#Cusually '#$"%s "% t!# )uscl#s o7 t!#C

S!ould#rsS!ould#rsU #r ar)sU #r ar)sS!"%sS!"%s

E)#ry=Dr#"7uss MD usually '#$"%s "% t!#E)#ry=Dr#"7uss MD usually '#$"%s "% t!#c!"ld!ood to #arly t##% y#ars a%dc!"ld!ood to #arly t##% y#ars a%d

ro$r#ss#s slo*ly,ro$r#ss#s slo*ly,


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SYMPTOMS SI1NSSYMPTOMS SI1NS Muscl# *#a+%#ssMuscl# *#a+%#ss

Ra "dly ro$r#ss"(#Ra "dly ro$r#ss"(#Fr#@u#%t 7allsFr#@u#%t 7allsD" "culty *"t! )otor s+"lls ru%%"%$- !o "%$- 2u) "%$D" "culty *"t! )otor s+"lls ru%%"%$- !o "%$- 2u) "%$

D" "culty sta%d"%$ uD" "culty sta%d"%$ uD" "culty cl")'"%$ sta"rsD" "culty cl")'"%$ sta"rsD" "culty d#sc#%d"%$ sta"rsD" "culty d#sc#%d"%$ sta"rs

Pro$r#ss"(# d" "culty *al+"%$Pro$r#ss"(# d" "culty *al+"%$ A'"l"ty to *al+ )ay '# lost 'y a$# 3 A'"l"ty to *al+ )ay '# lost 'y a$# 3

Fat"$u#Fat"$u# I%t#ll#ctual r#tardat"o%/!a%d"ca oss"'l#I%t#ll#ctual r#tardat"o%/!a%d"ca oss"'l# S+#l#tal d#7or)"t"#sS+#l#tal d#7or)"t"#s

;!#st a%d 'ac+ scol"os"s;!#st a%d 'ac+ scol"os"s


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SYMPTOMS SI1NSSYMPTOMS SI1NS >addl"%$ $a"t>addl"%$ $a"t Muscl# d#7or)"t"#sMuscl# d#7or)"t"#s

;o%tractur#s o7 !##ls- l#$s, Lat#r d#(#lo )#%t;o%tractur#s o7 !##ls- l#$s, Lat#r d#(#lo )#%t"%d"cat#s a t#%d#%cy to sta%d a%d *al+ o% t!# 7or*ard"%d"cat#s a t#%d#%cy to sta%d a%d *al+ o% t!# 7or*ard

art o7 t!# 7oot *"t! t!# !##ls o t!# $rou%d,art o7 t!# 7oot *"t! t!# !##ls o t!# $rou%d, Ps#udo !y #rtro !y o7 cal7 )uscl#sPs#udo !y #rtro !y o7 cal7 )uscl#s

Hy #rlordos"sHy #rlordos"sTo try to +## !"s 'ala%c#,To try to +## !"s 'ala%c#,

A ar#%t lac+ o7 coord"%at"o% A ar#%t lac+ o7 coord"%at"o% Pro$r#ss"(# cr" l"%$- r#sult"%$ "% 0:at"o% o7 t!#Pro$r#ss"(# cr" l"%$- r#sult"%$ "% 0:at"o% o7 t!#)uscl#s arou%d t!# 2o"%ts co%tractur#s a%d loss)uscl#s arou%d t!# 2o"%ts co%tractur#s a%d losso7 )o'"l"tyo7 )o'"l"ty


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SYMPTOMS SI1NSSYMPTOMS SI1NS

B#caus# o7 *#a+#%#d l#$ )uscl#s-B#caus# o7 *#a+#%#d l#$ )uscl#s-'oys *"t! DMD !a(# a d"st"%ct"(#'oys *"t! DMD !a(# a d"st"%ct"(#*ay o7 r"s"%$ 7ro) t!# oor- call#d*ay o7 r"s"%$ 7ro) t!# oor- call#dt!# 1o*#rs. )a%#u(#r, T!#y 0rst $#tt!# 1o*#rs. )a%#u(#r, T!#y 0rst $#to% !a%ds a%d +%##s- t!#% #l#(at# t!#o% !a%ds a%d +%##s- t!#% #l#(at# t!#

ost#r"or- t!#% ?*al+? t!#"r !a%ds uost#r"or- t!#% ?*al+? t!#"r !a%ds u

t!# l#$s to ra"s# t!#"r u #r 'ody,t!# l#$s to ra"s# t!#"r u #r 'ody,


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29/58



30/58

DIA1NOSIS TESTSDIA1NOSIS TESTS Usually '#$"%s 'y ta+"%$ a at"#%t a%d 7a)"lyUsually '#$"%s 'y ta+"%$ a at"#%t a%d 7a)"ly

!"story a%d #r7or)"%$ a !ys"cal #:a)"%at"o%,!"story a%d #r7or)"%$ a !ys"cal #:a)"%at"o%, U%l#ss a 'oy *"t! DMD "s +%o*% to '# at r"s+U%l#ss a 'oy *"t! DMD "s +%o*% to '# at r"s+

'#caus# o7 !"s 7a)"ly !"story- !# "s u%l"+#ly to '#'#caus# o7 !"s 7a)"ly !"story- !# "s u%l"+#ly to '#d"a$%os#d '#7or# t!# a$# o7 or y#ars ord"a$%os#d '#7or# t!# a$# o7 or y#ars orold#r,old#r,

It.s ") orta%t to $#t a 7or)al d"a$%os"s '#caus#It.s ") orta%t to $#t a 7or)al d"a$%os"s '#caus#ot!#r d"s#as#s !a(# so)# o7 t!# sa)# sy) to)sot!#r d"s#as#s !a(# so)# o7 t!# sa)# sy) to)s

as DMD a%d BMD, B#c+#r MD !as o7t#% '##%as DMD a%d BMD, B#c+#r MD !as o7t#% '##%o(#rloo+#d or )"sd"a$%os#d as l")'=$"rdl#o(#rloo+#d or )"sd"a$%os#d as l")'=$"rdl#)uscular dystro !y or s "%al )uscular atro !y,)uscular dystro !y or s "%al )uscular atro !y,


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DIA1NOSIS TESTSDIA1NOSIS TESTS Muscl# *ast"%$ atro !y '#$"%s "% t!# l#$s a%d #l("s-Muscl# *ast"%$ atro !y '#$"%s "% t!# l#$s a%d #l("s-

t!#% ro$r#ss#s to t!# )uscl#s o7 t!# s!ould#rs a%dt!#% ro$r#ss#s to t!# )uscl#s o7 t!# s!ould#rs a%d%#c+- 7ollo*#d 'y loss o7 ar) )uscl#s a%d r#s "ratory%#c+- 7ollo*#d 'y loss o7 ar) )uscl#s a%d r#s "ratory)uscl#s,)uscl#s,

;al7 )uscl# #%lar$#)#%t s#udo!y #rtro !y "s @u"t#;al7 )uscl# #%lar$#)#%t s#udo!y #rtro !y "s @u"t#o'("ous,o'("ous,

;ard"o)yo at!y "s co))o%ly r#s#%t- 'ut s"$%s o7;ard"o)yo at!y "s co))o%ly r#s#%t- 'ut s"$%s o7co%$#st"(# !#art 7a"lur# or arr!yt!)"as "rr#$ularco%$#st"(# !#art 7a"lur# or arr!yt!)"as "rr#$ular!#art'#ats ar# rar#,!#art'#ats ar# rar#,

R#s "ratory d"sord#rs ar# co))o% dur"%$ t!# lat#rR#s "ratory d"sord#rs ar# co))o% dur"%$ t!# lat#rsta$#s- "%clud"%$ %#u)o%"a a%d as "rat"o% o7 7ood orsta$#s- "%clud"%$ %#u)o%"a a%d as "rat"o% o7 7ood or

u"d "%to t!# lu%$su"d "%to t!# lu%$s A %#urolo$"c #:a) d#)o%strat#s *#a+%#ss a%d lac+ o7 A %#urolo$"c #:a) d#)o%strat#s *#a+%#ss a%d lac+ o7

coord"%at"o% or 'ala%c#,coord"%at"o% or 'ala%c#,


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DIA1NOSIS TESTSDIA1NOSIS TESTS Blood tests%Blood tests%

Da)a$#d )uscl#s r#l#as# #%&y)#s suc! as cr#at"%#Da)a$#d )uscl#s r#l#as# #%&y)#s suc! as cr#at"%#+"%as# ;K "%to t!# 'lood- a% #%&y)# t!at l#a+s out o7+"%as# ;K "%to t!# 'lood- a% #%&y)# t!at l#a+s out o7da)a$#d )uscl#,da)a$#d )uscl#,>!#% #l#(at#d ;K l#(#ls ar# 7ou%d "% a 'lood sa) l#->!#% #l#(at#d ;K l#(#ls ar# 7ou%d "% a 'lood sa) l#-"t usually )#a%s )uscl# "s '#"%$ d#stroy#d 'y so)#"t usually )#a%s )uscl# "s '#"%$ d#stroy#d 'y so)#a'%or)al roc#ss- suc! as a )uscular dystro !y or a%a'%or)al roc#ss- suc! as a )uscular dystro !y or a%"% a))at"o%,"% a))at"o%,T!#r#7or#- a !"$! ;K l#(#l su$$#sts t!at t!# )uscl#sT!#r#7or#- a !"$! ;K l#(#l su$$#sts t!at t!# )uscl#st!#)s#l(#s ar# t!# l"+#ly caus# o7 t!# *#a+%#ss- 'ut "tt!#)s#l(#s ar# t!# l"+#ly caus# o7 t!# *#a+%#ss- 'ut "tdo#s%.t t#ll #:actly *!at t!# )uscl# d"sord#r )"$!t '#,do#s%.t t#ll #:actly *!at t!# )uscl# d"sord#r )"$!t '#,

/lectro!yo)raphy%/lectro!yo)raphy% T!# d"str"'ut"o% o7 t!# d"s#as# ca% '# d#t#r)"%#d 'yT!# d"str"'ut"o% o7 t!# d"s#as# ca% '# d#t#r)"%#d 'yt#st"%$ d" #r#%t )uscl#s, EM1 s!o*s t!at *#a+%#sst#st"%$ d" #r#%t )uscl#s, EM1 s!o*s t!at *#a+%#ss"s caus#d 'y d#struct"o% o7 )uscl# t"ssu# rat!#r t!a%"s caus#d 'y d#struct"o% o7 )uscl# t"ssu# rat!#r t!a%%#r(# da)a$#,%#r(# da)a$#,


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DIA1NOSIS TESTSDIA1NOSIS TESTS

Muscle *iopsy%Muscle *iopsy% T!# a%alys"s d"st"%$u"s!#s )uscularT!# a%alys"s d"st"%$u"s!#s )usculardystro !"#s 7ro) ot!#r )uscl# d"s#as#s,dystro !"#s 7ro) ot!#r )uscl# d"s#as#s,

Ot!#r t#sts o% t!# '"o sy sa) l# ca%Ot!#r t#sts o% t!# '"o sy sa) l# ca%ro("d# "%7or)at"o% a'out *!"c! )uscl#ro("d# "%7or)at"o% a'out *!"c! )uscl#rot#"%s ar# r#s#%t "% t!# )uscl# c#lls-rot#"%s ar# r#s#%t "% t!# )uscl# c#lls-

a%d *!#t!#r t!#y.r# r#s#%t "% t!# %or)ala%d *!#t!#r t!#y.r# r#s#%t "% t!# %or)ala)ou%ts a%d "% t!# r"$!t locat"o%s,a)ou%ts a%d "% t!# r"$!t locat"o%s,T!"s ca% d#t#r)"%# *!#t!#r t!# d"s#as# "sT!"s ca% d#t#r)"%# *!#t!#r t!# d"s#as# "sDMD *"t! %o dystro !"% or BMD *"t!DMD *"t! %o dystro !"% or BMD *"t!so)# "%ad#@uat# dystro !"% ,so)# "%ad#@uat# dystro !"% ,


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DIA1NOSIS TESTSDIA1NOSIS TESTS Genetic testin)%Genetic testin)%

I% t!# ast- c#rta"% 'lood t#sts t!at ar# us#d toI% t!# ast- c#rta"% 'lood t#sts t!at ar# us#d toa%aly DNA allo*#d so)# 7or)s o7 )usculara%aly DNA allo*#d so)# 7or)s o7 )usculardystro !y to '# d"a$%os#d 'y "d#%t"7y"%$ a art"culardystro !y to '# d"a$%os#d 'y "d#%t"7y"%$ a art"cular)utat"o% o7 t!# dystro !"% $#%#,)utat"o% o7 t!# dystro !"% $#%#,

A %#* DNA t#st- call#d s"%$l# co%d"t"o% A %#* DNA t#st- call#d s"%$l# co%d"t"o%a) l"0cat"o%/ "%t#r%al r")#r S;AIP s#@u#%c"%$-a) l"0cat"o%/ "%t#r%al r")#r S;AIP s#@u#%c"%$-allo*s us to loo+ at t!# #%t"r# dystro !"% $#%# to 0%dallo*s us to loo+ at t!# #%t"r# dystro !"% $#%# to 0%d)ult" l# (ar"at"o%s- ro("d"%$ )or# t!a% 2ust o%#)ult" l# (ar"at"o%s- ro("d"%$ )or# t!a% 2ust o%#ty # o7 d"a$%os"s,ty # o7 d"a$%os"s,T!# a(a"la'"l"ty o7 DNA d"a$%ost"c t#sts- us"%$ #"t!#rT!# a(a"la'"l"ty o7 DNA d"a$%ost"c t#sts- us"%$ #"t!#r'lood c#lls or )uscl# c#lls to $#t r#c"s# $#%#t"c'lood c#lls or )uscl# c#lls to $#t r#c"s# $#%#t"c"%7or)at"o%- "s #: a%d"%$ ra "dly,"%7or)at"o%- "s #: a%d"%$ ra "dly,S"st#rs o7 #o l# *"t! DMD or BMD ca% also '#S"st#rs o7 #o l# *"t! DMD or BMD ca% also '#t#st#d to 0%d out *!#t!#r t!#y.r# carr"#rs o7 t!#t#st#d to 0%d out *!#t!#r t!#y.r# carr"#rs o7 t!#d"s#as#- )#a%"%$ t!#y could !a(# c!"ldr#% *"t! t!#d"s#as#- )#a%"%$ t!#y could !a(# c!"ldr#% *"t! t!#d"sord#r,d"sord#r,


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DIA1NOSIS TESTSDIA1NOSIS TESTS O7t#%- t!# d"a$%os"s o7 B#c+#r )uscular dystro !yO7t#%- t!# d"a$%os"s o7 B#c+#r )uscular dystro !y

"s%.t )ad# u%t"l adol#sc#%c# or #(#% adult!ood-"s%.t )ad# u%t"l adol#sc#%c# or #(#% adult!ood-oss"'ly *!#% a you%$ )a% 0%ds !# ca%.t +## u "%oss"'ly *!#% a you%$ )a% 0%ds !# ca%.t +## u "%!ys"cal #ducat"o% class#s or )"l"tary tra"%"%$, To!ys"cal #ducat"o% class#s or )"l"tary tra"%"%$, To

co) #%sat# 7or !"s *#a+#%"%$ )uscl#s- t!# you%$co) #%sat# 7or !"s *#a+#%"%$ )uscl#s- t!# you%$)a% '#$"%s *al+"%$ *"t! a *addl"%$ $a"t- *al+"%$ o%)a% '#$"%s *al+"%$ *"t! a *addl"%$ $a"t- *al+"%$ o%!"s to#s or st"c+"%$ out !"s a'do)#%,!"s to#s or st"c+"%$ out !"s a'do)#%,

As *"t! Duc!#%%#- t!# att#r% o7 )uscl# loss "% BMD As *"t! Duc!#%%#- t!# att#r% o7 )uscl# loss "% BMDusually '#$"%s *"t! t!# !" s a%d #l("c ar#a- t!#usually '#$"%s *"t! t!# !" s a%d #l("c ar#a- t!#t!"$!s a%d t!# s!ould#rs, But "% BMD- t!# rat# o7t!"$!s a%d t!# s!ould#rs, But "% BMD- t!# rat# o7)uscl# d#$#%#rat"o% (ar"#s a $r#at d#al 7ro) o%#)uscl# d#$#%#rat"o% (ar"#s a $r#at d#al 7ro) o%#

#rso% to a%ot!#r, So)# )#% r#@u"r# *!##lc!a"rs 'y#rso% to a%ot!#r, So)# )#% r#@u"r# *!##lc!a"rs 'yt!#"r 6s or lat#r- *!"l# so)# )a%a$# 7or )a%y y#arst!#"r 6s or lat#r- *!"l# so)# )a%a$# 7or )a%y y#ars*"t! )"%or a"ds- suc! as ca%#s,*"t! )"%or a"ds- suc! as ca%#s,


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0i)nos ,unctional Ratin) 0i)nos ,unctional Ratin)'cale for Duchenne'cale for DuchenneMuscular Dystrophy Muscular Dystrophy 3,3, >al+s a%d cl")'s sta"rs *"t!out ass"sta%c#>al+s a%d cl")'s sta"rs *"t!out ass"sta%c#,, >al+s a%d cl")'s sta"rs *"t! a"d o7 ra"l"%$>al+s a%d cl")'s sta"rs *"t! a"d o7 ra"l"%$

,, >al+s a%d cl")'s sta"rs slo*ly *"t! a"d o7 ra"l"%$ o(#r>al+s a%d cl")'s sta"rs slo*ly *"t! a"d o7 ra"l"%$ o(#r9 s#co%ds 7or #"$!t sta%dard st# s9 s#co%ds 7or #"$!t sta%dard st# s

,, >al+- 'ut ca%%ot cl")' sta"rs>al+- 'ut ca%%ot cl")' sta"rs9,9, >al+s ass"st#d- 'ut ca%%ot cl")' sta"rs or $#t out o7>al+s ass"st#d- 'ut ca%%ot cl")' sta"rs or $#t out o7

c!a"rc!a"r5,5, >al+ o%ly *"t! ass"sta%c# or *"t! 'rac#>al+ o%ly *"t! ass"sta%c# or *"t! 'rac#

,, I% *!##lc!a"r- s"ts #r#ct a%d ca% roll c!a"r a%d #r7or)I% *!##lc!a"r- s"ts #r#ct a%d ca% roll c!a"r a%d #r7or)'#d a%d *!##lc!a"r ADL'#d a%d *!##lc!a"r ADL

4,4, I% *!##lc!a"r- s"ts #r#ct a%d ca% roll c!a"r a%d "s u%a'l#I% *!##lc!a"r- s"ts #r#ct a%d ca% roll c!a"r a%d "s u%a'l#to #r7or) '#d a%d *!##lc!a"r ADL *"t!out ass"sta%c#to #r7or) '#d a%d *!##lc!a"r ADL *"t!out ass"sta%c#

8,8, I% *!##lc!a"r- s"ts #r#ct o%ly *"t! su ort a%d "s a'l# toI% *!##lc!a"r- s"ts #r#ct o%ly *"t! su ort a%d "s a'l# todo o%ly )"%")al AFLdo o%ly )"%")al AFL

36,36, I% '#dC ca% do %o ADL *"t!out ass"sta%c#I% '#dC ca% do %o ADL *"t!out ass"sta%c#


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TREATMENTTREATMENT

T!#r#.s curr#%tly %o cur# 7or a%y 7or)T!#r#.s curr#%tly %o cur# 7or a%y 7or)o7 )uscular dystro !y, Tr#at)#%t "so7 )uscular dystro !y, Tr#at)#%t "sa")#d at co%trol o7 sy) to)s toa")#d at co%trol o7 sy) to)s to)a:")" t!# @ual"ty o7 l"7#,)a:")" t!# @ual"ty o7 l"7#,

urrent treat!ent is desi)ned tourrent treat!ent is desi)ned tohelp prevent or reduce defor!itieshelp prevent or reduce defor!ities

in the 1oints and the spine and toin the 1oints and the spine and toallow people with MD to re!ainallow people with MD to re!ain!o*ile as lon) as possi*le%!o*ile as lon) as possi*le%


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TREATMENTTREATMENT Act"("ty "s #%coura$#d, Act"("ty "s #%coura$#d, I%act"("ty suc! as '#d r#st ca%I%act"("ty suc! as '#d r#st ca%

*ors#% t!# )uscl# d"s#as#,*ors#% t!# )uscl# d"s#as#, R#$ular da"ly !ys"cal t!#ra yR#$ular da"ly !ys"cal t!#ra y

s#ss"o%s )ay '# !#l 7ul to )a"%ta"%s#ss"o%s )ay '# !#l 7ul to )a"%ta"%)uscl# str#%$t! a%d 7u%ct"o%,)uscl# str#%$t! a%d 7u%ct"o%,


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TREATMENTTREATMENT Ass"st"(# d#("c#sC Ass"st"(# d#("c#sC

Brac#s or s l"%ts o% t!# l#$s- art"cularly at %"$!t,Brac#s or s l"%ts o% t!# l#$s- art"cularly at %"$!t,Brac#s #:t#%d"%$ 7ro) s!o#s to t!"$!s to 7ac"l"tat#Brac#s #:t#%d"%$ 7ro) s!o#s to t!"$!s to 7ac"l"tat#sta%d"%$ a%d *al+"%$, T!# 'rac#s- 0tt#d *"t!sta%d"%$ a%d *al+"%$, T!# 'rac#s- 0tt#d *"t!!"%$#s at t!# +%##s- ca% '# *or% #(#% *!"l# t!#!"%$#s at t!# +%##s- ca% '# *or% #(#% *!"l# t!#c!"ld "s s"tt"%$, T!#y ar# co)7orta'l# a%dc!"ld "s s"tt"%$, T!#y ar# co)7orta'l# a%dr#lat"(#ly l"$!t "% *#"$!t,r#lat"(#ly l"$!t "% *#"$!t,

A *al+#r )ay '# us#d "% co)'"%at"o% *"t! t!# A *al+#r )ay '# us#d "% co)'"%at"o% *"t! t!#'rac#s to allo* 7or "%d# #%d#%t )o'"l"ty,'rac#s to allo* 7or "%d# #%d#%t )o'"l"ty,>!##lc!a"r>!##lc!a"r

M#d"cat"o%M#d"cat"o% Sur$#rySur$#ry


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P!ys"cal T!#ra yP!ys"cal T!#ra y

As )uscular dystro !y ro$r#ss#s a%d )uscl#s *#a+#%- As )uscular dystro !y ro$r#ss#s a%d )uscl#s *#a+#%-co%tractur#s ca% d#(#lo "% 2o"%ts, T#%do%s ca%co%tractur#s ca% d#(#lo "% 2o"%ts, T#%do%s ca%

s!ort#%- r#str"ct"%$ t!# #:"'"l"ty a%d )o'"l"ty o7 2o"%ts,s!ort#%- r#str"ct"%$ t!# #:"'"l"ty a%d )o'"l"ty o7 2o"%ts,;o%tractur#s ar# u%co)7orta'l# a%d )ay a #ct t!#;o%tractur#s ar# u%co)7orta'l# a%d )ay a #ct t!#

2o"%ts o7 t!# !a%ds- 7##t- #l'o*s- +%##s a%d !" s, 2o"%ts o7 t!# !a%ds- 7##t- #l'o*s- +%##s a%d !" s,

T!# r")ary $oals o7 !ys"cal t!#ra y ar# to allo*T!# r")ary $oals o7 !ys"cal t!#ra y ar# to allo*$r#at#r )ot"o% "% t!# 2o"%ts a%d to r#(#%t co%tractur#s$r#at#r )ot"o% "% t!# 2o"%ts a%d to r#(#%t co%tractur#sa%d scol"os"s,a%d scol"os"s,

E:#rc"s# ca% !#l 'u"ld s+#l#tal )uscl#- +## t!#E:#rc"s# ca% !#l 'u"ld s+#l#tal )uscl#- +## t!#card"o(ascular syst#) !#alt!y- a%d co%tr"'ut# to 7##l"%$card"o(ascular syst#) !#alt!y- a%d co%tr"'ut# to 7##l"%$'#tt#r,'#tt#r, But in !uscular dystrophy2 too !uchBut in !uscular dystrophy2 too !uche3ercise could da!a)e !uscle% A persone3ercise could da!a)e !uscle% A person with DMD or BMD can e3ercise !oderately with DMD or BMD can e3ercise !oderately*ut shouldn$t )o to the point of e3haustion%*ut shouldn$t )o to the point of e3haustion%


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P!ys"cal T!#ra yP!ys"cal T!#ra y

So)# #: #rts r#co))#%d s*"))"%$ a%dSo)# #: #rts r#co))#%d s*"))"%$ a%d*at#r #:#rc"s#s *at#r #:#rc"s#s aquatic therapy aquatic therapy as a $ood as a $ood*ay to +## )uscl#s as to%#d as oss"'l#*ay to +## )uscl#s as to%#d as oss"'l#

*"t!out caus"%$ u%du# str#ss o% t!#), T!#*"t!out caus"%$ u%du# str#ss o% t!#), T!#'uoya%cy o7 t!# *at#r !#l s rot#ct'uoya%cy o7 t!# *at#r !#l s rot#cta$a"%st c#rta"% +"%ds o7 )uscl# stra"% a%da$a"%st c#rta"% +"%ds o7 )uscl# stra"% a%d"%2ury, B#7or# u%d#rta+"%$ a%y #:#rc"s#"%2ury, B#7or# u%d#rta+"%$ a%y #:#rc"s#

ro$ra)- )a+# sur# a card"ac #(aluat"o%,ro$ra)- )a+# sur# a card"ac #(aluat"o%, Us"%$ !ot 'at!s also ca% !#l )a"%ta"%Us"%$ !ot 'at!s also ca% !#l )a"%ta"%

ra%$# o7 )ot"o% "% 2o"%ts,ra%$# o7 )ot"o% "% 2o"%ts,


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Occu at"o%al T!#ra yOccu at"o%al T!#ra y

Occu at"o%al t!#ra y 7ocus#s )or# o%Occu at"o%al t!#ra y 7ocus#s )or# o%s #c"0c act"("t"#s a%d 7u%ct"o%s- *!"l#s #c"0c act"("t"#s a%d 7u%ct"o%s- *!"l#

!ys"cal t!#ra y #) !as"s )o'"l"ty!ys"cal t!#ra y #) !as"s )o'"l"ty

a%d- *!#r# oss"'l#- str#%$t!#%"%$ o7a%d- *!#r# oss"'l#- str#%$t!#%"%$ o7lar$# )uscl# $rou s,lar$# )uscl# $rou s,

OT ca% !#l *"t! tas+s r#lat#d to *or+-OT ca% !#l *"t! tas+s r#lat#d to *or+-

r#cr#at"o% or da"ly l"("%$- suc! asr#cr#at"o% or da"ly l"("%$- suc! asdr"("%$- dr#ss"%$ or us"%$ a co) ut#r,dr"("%$- dr#ss"%$ or us"%$ a co) ut#r,


43/58

EN IRONMENTALEN IRONMENTAL ADAPTATIONS ADAPTATIONS

ar"ous ty #s o7 #%("ro%)#%tal ar"ous ty #s o7 #%("ro%)#%talada tat"o%s )ay '# %#c#ssary toada tat"o%s )ay '# %#c#ssary to!#l t!# c!"ld r#)a"% "%d# #%d#%t "%!#l t!# c!"ld r#)a"% "%d# #%d#%t "%da"ly act"("t"#s- "%clud"%$ ra"s#dda"ly act"("t"#s- "%clud"%$ ra"s#dto"l#t s#ats- s #c"al d#s+ to s- ra) sto"l#t s#ats- s #c"al d#s+ to s- ra) s"%st#ad o7 st# s- !a%dra"ls- a%d"%st#ad o7 st# s- !a%dra"ls- a%d

ot!#rs,ot!#rs,


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Braces2 'tandin) ,ra!esBraces2 'tandin) ,ra!esand 4heelchairsand 4heelchairs

Brac#s su ort t!# a%+l# a%dBrac#s su ort t!# a%+l# a%d7oot or #:t#%d o(#r t!# +%##,7oot or #:t#%d o(#r t!# +%##,

A%+l#=7oot ort!os#s ar# A%+l#=7oot ort!os#s ar#so)#t")#s r#scr"'#d 7orso)#t")#s r#scr"'#d 7or%"$!t *#ar to +## t!# 7oot%"$!t *#ar to +## t!# 7oot7ro) o"%t"%$ do*%*ard7ro) o"%t"%$ do*%*ard*!"l# t!# c!"ld "s sl## "%$,*!"l# t!# c!"ld "s sl## "%$,

Sta%d"%$ 7or a 7#* !oursSta%d"%$ 7or a 7#* !ours#ac! day- #(#% *"t! )"%")al#ac! day- #(#% *"t! )"%")al*#"$!t '#ar"%$- ro)ot#s*#"$!t '#ar"%$- ro)ot#s'#tt#r c"rculat"o%- !#alt!"#r'#tt#r c"rculat"o%- !#alt!"#r'o%#s a%d a stra"$!t s "%#, A'o%#s a%d a stra"$!t s "%#, A

sta%d"%$ *al+#r or sta%d"%$sta%d"%$ *al+#r or sta%d"%$7ra)# ca% ass"st #o l# *"t!7ra)# ca% ass"st #o l# *"t!DMD a%d BMD to sta%d,DMD a%d BMD to sta%d,So)# *!##lc!a"rs *"ll t"ltSo)# *!##lc!a"rs *"ll t"lt"%to a sta%d"%$ os"t"o%"%to a sta%d"%$ os"t"o%


45/58

Braces2 'tandin) ,ra!esBraces2 'tandin) ,ra!esand 4heelchairsand 4heelchairs

Soo%#r or lat#r- all 'oys *"t! DMD %##dSoo%#r or lat#r- all 'oys *"t! DMD %##d*!##lc!a"rs,*!##lc!a"rs,

Ma%y at 0rst us# *!##lc!a"rs at sc!ool orMa%y at 0rst us# *!##lc!a"rs at sc!ool ort!# )all- co%t"%u"%$ to *al+ so)# at !o)#,t!# )all- co%t"%u"%$ to *al+ so)# at !o)#,

I% Duc!#%%#- "t.s ty "cal 7or a c!"ld to '#I% Duc!#%%#- "t.s ty "cal 7or a c!"ld to '#us"%$ a *!##lc!a"r 7ull=t")# 'y a'out a$# 3 ,us"%$ a *!##lc!a"r 7ull=t")# 'y a'out a$# 3 ,

Alt!ou$! t!# c!"ld a%d ar#%ts )ay dr#ad Alt!ou$! t!# c!"ld a%d ar#%ts )ay dr#adt!# *!##lc!a"r as a sy)'ol o7 d"sa'"l"ty- )ostt!# *!##lc!a"r as a sy)'ol o7 d"sa'"l"ty- )ostus#rs 0%d t!#y ar# actually )or# )o'"l#-us#rs 0%d t!#y ar# actually )or# )o'"l#-#%#r$#t"c a%d "%d# #%d#%t t!a% *!#% try"%$#%#r$#t"c a%d "%d# #%d#%t t!a% *!#% try"%$to *al+ o% (#ry *#a+ l#$s,to *al+ o% (#ry *#a+ l#$s,


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MEDI;ATIONSMEDI;ATIONS St#ro"ds )ay !a(# a s"$%"0ca%t '#%#0t "% DMD, T!#St#ro"ds )ay !a(# a s"$%"0ca%t '#%#0t "% DMD, T!#

'#st +%o*% o7 t!#s# dru$s "s r#d%"so%# "t.s '##%'#st +%o*% o7 t!#s# dru$s "s r#d%"so%# "t.s '##%s!o*% to slo* t!# loss o7 )uscl# 7u%ct"o% or #(#% tos!o*% to slo* t!# loss o7 )uscl# 7u%ct"o% or #(#% to"%cr#as# str#%$t! "% DMD, >"t! t!#s# dru$s- so)#o%#"%cr#as# str#%$t! "% DMD, >"t! t!#s# dru$s- so)#o%#*"t! DMD )ay '# a'l# to *al+ a%d !a(# stro%$#r ar)s*"t! DMD )ay '# a'l# to *al+ a%d !a(# stro%$#r ar)sa%d l#$s 7or s#(#ral )o%t!s or #(#% a cou l# o7 y#arsa%d l#$s 7or s#(#ral )o%t!s or #(#% a cou l# o7 y#arslo%$#r t!a% *ould !a(# '##% oss"'l# *"t!out t!#),lo%$#r t!a% *ould !a(# '##% oss"'l# *"t!out t!#),

But r#d%"so%# also !as )a%y ot#%t"ally da)a$"%$But r#d%"so%# also !as )a%y ot#%t"ally da)a$"%$s"d# # #cts- *!"c! ca% '# s#(#r# o(#r a rolo%$#ds"d# # #cts- *!"c! ca% '# s#(#r# o(#r a rolo%$#d

#r"od, T!#s# "%clud# s"$%"0ca%t *#"$!t $a"%- loss o7#r"od, T!#s# "%clud# s"$%"0ca%t *#"$!t $a"%- loss o7'o%# a%d arado:"cally )uscl# t"ssu#- t!"%%"%$ o7 t!#'o%# a%d arado:"cally )uscl# t"ssu#- t!"%%"%$ o7 t!#

s+"%- ra"s#d 'lood r#ssur# a%d 'lood su$ar- a%ds+"%- ra"s#d 'lood r#ssur# a%d 'lood su$ar- a%ds#r"ous syc!olo$"cal d"str#ss- "%clud"%$ d" "cultys#r"ous syc!olo$"cal d"str#ss- "%clud"%$ d" "cultyt!"%+"%$- sl## "%$ a%d co%troll"%$ '#!a("or- a%d #(#%t!"%+"%$- sl## "%$ a%d co%troll"%$ '#!a("or- a%d #(#%s#(#r# d# r#ss"o%, Eac! o7 t!#s# s"d# # #cts ca%s#(#r# d# r#ss"o%, Eac! o7 t!#s# s"d# # #cts ca%actually *ors#% t!# ") act o7 )uscular dystro !y,actually *ors#% t!# ") act o7 )uscular dystro !y,


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MEDI;ATIONSMEDI;ATIONS

,or !yotonic dystrophy%,or !yotonic dystrophy% T!# )#d"cat"o%s !#%yto"%- @u"%"%#T!# )#d"cat"o%s !#%yto"%- @u"%"%#

a%d roca"%a)"d# )ay '# us#d toa%d roca"%a)"d# )ay '# us#d totr#at t!# d#lay#d )uscl# r#la:at"o%tr#at t!# d#lay#d )uscl# r#la:at"o%t!at occurs "% )yoto%"c dystro !y,t!at occurs "% )yoto%"c dystro !y,


48/58

SUR1ERY SUR1ERY

To r#l#as# t!# co%tractur#s t!at )ayTo r#l#as# t!# co%tractur#s t!at )ayd#(#lo a%d t!at ca% os"t"o% 2o"%tsd#(#lo a%d t!at ca% os"t"o% 2o"%ts"% a"%7ul *ays- "t ca% '# #r7or)#d"% a"%7ul *ays- "t ca% '# #r7or)#da t#%do% r#l#as# sur$#ry,a t#%do% r#l#as# sur$#ry,

T!"s )ay '# do%# to r#l"#(# t#%do%sT!"s )ay '# do%# to r#l"#(# t#%do%so7 t!# !" - +%## a%d Ac!"ll#s t#%do%,o7 t!# !" - +%## a%d Ac!"ll#s t#%do%,


49/58


50/58

Pa"% a%d S#%sat"o%Pa"% a%d S#%sat"o% S"%c# )uscular dystro !y do#s%.t a #ct %#r(#sS"%c# )uscular dystro !y do#s%.t a #ct %#r(#s

d"r#ctly- t!os# *!o !a(# t!# d"sord#rs r#ta"%d"r#ctly- t!os# *!o !a(# t!# d"sord#rs r#ta"%%or)al s#%sat"o%s o7 touc! a%d ot!#r s#%s#s,%or)al s#%sat"o%s o7 touc! a%d ot!#r s#%s#s,

T!#y also usually !a(# co%trol o(#r t!# s)oot!-T!#y also usually !a(# co%trol o(#r t!# s)oot!-or "%(olu%tary- )uscl#s o7 t!# 'ladd#r a%dor "%(olu%tary- )uscl#s o7 t!# 'ladd#r a%d'o*#l- a%d !a(# %or)al s#:ual 7u%ct"o%s'o*#l- a%d !a(# %or)al s#:ual 7u%ct"o%s

T!# )uscl# d#t#r"orat"o% "% Duc!#%%# a%dT!# )uscl# d#t#r"orat"o% "% Duc!#%%# a%dB#c+#r usually "s %ot a"%7ul "% "ts#l7,B#c+#r usually "s %ot a"%7ul "% "ts#l7,

So)# #o l# r# ort )uscl# cra) s at t")#sSo)# #o l# r# ort )uscl# cra) s at t")#st!#s# ca% usually '# tr#at#d *"t! o(#r=t!#=t!#s# ca% usually '# tr#at#d *"t! o(#r=t!#=cou%t#r a"% r#l"#(#rs,cou%t#r a"% r#l"#(#rs,


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T!# H#artT!# H#art By t!# t##% y#ars- t!# da)a$# do%# 'y DMD to t!#By t!# t##% y#ars- t!# da)a$# do%# 'y DMD to t!#!#art a%d t!# )uscl#s "%(ol(#d "% o #rat"%$ t!#!#art a%d t!# )uscl#s "%(ol(#d "% o #rat"%$ t!#

lu%$s ca% '#co)# l"7#=t!r#at#%"%$,lu%$s ca% '#co)# l"7#=t!r#at#%"%$, P#o l# *"t! DMD a%d BMD o7t#% d#(#loP#o l# *"t! DMD a%d BMD o7t#% d#(#lo

card"o)yo at!y '#caus# o7 a d#0c"#%cy o7card"o)yo at!y '#caus# o7 a d#0c"#%cy o7dystro !"%, Myocard"u) o7 t!# !#art d#t#r"orat#s-dystro !"%, Myocard"u) o7 t!# !#art d#t#r"orat#s-

2ust as t!# s+#l#tal )uscl#s do- utt"%$ t!# #rso% 2ust as t!# s+#l#tal )uscl#s do- utt"%$ t!# #rso%at r"s+ o7 7atal !#art 7a"lur#,at r"s+ o7 7atal !#art 7a"lur#,

Ma2or sy) to)s o7 card"o)yo at!y ar# s!ort%#ssMa2or sy) to)s o7 card"o)yo at!y ar# s!ort%#sso7 'r#at!- u"d "% t!# lu%$s or s*#ll"%$ "% t!# 7##to7 'r#at!- u"d "% t!# lu%$s or s*#ll"%$ "% t!# 7##ta%d lo*#r l#$s caus#d 'y u"d r#t#%t"o%, T!#a%d lo*#r l#$s caus#d 'y u"d r#t#%t"o%, T!## #cts ca% '# d")"%"s!#d *"t! a lo*=sod"u) d"#t-# #cts ca% '# d")"%"s!#d *"t! a lo*=sod"u) d"#t-)"ld #:#rc"s#- )#c!a%"cal (#%t"lat"o% or)"ld #:#rc"s#- )#c!a%"cal (#%t"lat"o% or)#d"cat"o%s,)#d"cat"o%s,

So)# #o l# *"t! BMD !a(# )"ld s+#l#tal )uscl#So)# #o l# *"t! BMD !a(# )"ld s+#l#tal )uscl#"%(ol(#)#%t 'ut s#(#r# card"ac ro'l#)s, I% BMD-"%(ol(#)#%t 'ut s#(#r# card"ac ro'l#)s, I% BMD-t!# !#art s!ould '# c!#c+#d r#$ularly a%d tr#at#dt!# !#art s!ould '# c!#c+#d r#$ularly a%d tr#at#d"7 %#c#ssary,"7 %#c#ssary,


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R#s "ratoryR#s "ratoryFu%ct"o%Fu%ct"o% A7t#r a 'oy *"t! DMD "s a'out 36 y#ars old- t!# A7t#r a 'oy *"t! DMD "s a'out 36 y#ars old- t!#d"a !ra$) a%d ot!#r )uscl#s t!at o #rat# t!# lu%$sd"a !ra$) a%d ot!#r )uscl#s t!at o #rat# t!# lu%$s)ay *#a+#%- )a+"%$ t!#) l#ss # #ct"(# "% )o("%$ a"r)ay *#a+#%- )a+"%$ t!#) l#ss # #ct"(# "% )o("%$ a"r

"% a%d out, Pro'l#)s t!at )ay "%d"cat# oor r#s "ratory"% a%d out, Pro'l#)s t!at )ay "%d"cat# oor r#s "ratory7u%ct"o% "%clud# !#adac!#s- )#%tal dull%#ss- d" "culty7u%ct"o% "%clud# !#adac!#s- )#%tal dull%#ss- d" "cultyco%c#%trat"%$ or stay"%$ a*a+#- a%d %"$!t)ar#s,co%c#%trat"%$ or stay"%$ a*a+#- a%d %"$!t)ar#s,

A%yo%# *"t! a *#a+#%#d r#s "ratory syst#) "s also A%yo%# *"t! a *#a+#%#d r#s "ratory syst#) "s alsosu'2#ct to )or# "%7#ct"o%s a%d d" "culty "% cou$!"%$, Asu'2#ct to )or# "%7#ct"o%s a%d d" "culty "% cou$!"%$, As") l# cold ca% @u"c+ly ro$r#ss to %#u)o%"a "% t!"ss") l# cold ca% @u"c+ly ro$r#ss to %#u)o%"a "% t!"s

#rso%, As 'r#at!"%$ a'"l"ty d#cl"%#s- t!# 7a)"ly ca%#rso%, As 'r#at!"%$ a'"l"ty d#cl"%#s- t!# 7a)"ly ca%l#ar% roc#dur#s to ass"st *"t! cou$!"%$ a%d +## t!#l#ar% roc#dur#s to ass"st *"t! cou$!"%$ a%d +## t!#

'ro%c!"al syst#) 7r## 7ro) s#cr#t"o%s,'ro%c!"al syst#) 7r## 7ro) s#cr#t"o%s, So)#t")#s a r#s "rator "s %##d#d, >!#% "t.s %##d#dSo)#t")#s a r#s "rator "s %##d#d, >!#% "t.s %##d#d)or# o7t#%- a trac!#osto)y )ay '# #r7or)#d a%d a)or# o7t#%- a trac!#osto)y )ay '# #r7or)#d a%d atu'# "%s#rt#d d"r#ctly "%to t!# trac!#a a"r*ay totu'# "%s#rt#d d"r#ctly "%to t!# trac!#a a"r*ay tod#l"(#r a"r to t!# lu%$s,d#l"(#r a"r to t!# lu%$s,


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I%t#ll#ctual E #ctsI%t#ll#ctual E #cts

A'out a t!"rd o7 'oys *"t! DMD !a(# A'out a t!"rd o7 'oys *"t! DMD !a(#so)# d#$r## o7 l#ar%"%$ d"sa'"l"ty-so)# d#$r## o7 l#ar%"%$ d"sa'"l"ty-alt!ou$! 7#* ar# s#r"ously r#tard#d,alt!ou$! 7#* ar# s#r"ously r#tard#d,

Dystro !"% a'%or)al"t"#s "% t!# 'ra"% )ayDystro !"% a'%or)al"t"#s "% t!# 'ra"% )aycaus# co$%"t"(# a%d '#!a("oral d#0c"ts,caus# co$%"t"(# a%d '#!a("oral d#0c"ts, T!# l#ar%"%$ ro'l#)s s##% "% so)#T!# l#ar%"%$ ro'l#)s s##% "% so)#

#o l# *"t! DMD a%d BMD occur "% t!r###o l# *"t! DMD a%d BMD occur "% t!r##

$#%#ral ar#asC att#%t"o% 7ocus"%$- (#r'al$#%#ral ar#asC att#%t"o% 7ocus"%$- (#r'all#ar%"%$ a%d )#)ory- a%d #)ot"o%all#ar%"%$ a%d )#)ory- a%d #)ot"o%al"%t#ract"o%,"%t#ract"o%,


54/58

DIETSDIETS Ma%y #o l#- *!#% t!#y !#ar t!# *ords ?lac+ o7 aMa%y #o l#- *!#% t!#y !#ar t!# *ords ?lac+ o7 arot#"%-? lo$"cally as+- ?S!ould I #at )or# rot#"%G ?rot#"%-? lo$"cally as+- ?S!ould I #at )or# rot#"%G ?

U%7ortu%at#ly- #at"%$ )or# rot#"% !as %o # #ct o%U%7ortu%at#ly- #at"%$ )or# rot#"% !as %o # #ct o%a%y o7 t!# rot#"%s )"ss"%$ "% )uscular dystro !y,a%y o7 t!# rot#"%s )"ss"%$ "% )uscular dystro !y,

No s #c"al d"#tary r#str"ct"o%s or add"t"o%s ar# +%o*%No s #c"al d"#tary r#str"ct"o%s or add"t"o%s ar# +%o*%to !#l "% DMD or BMD, Most doctors r#co))#%d ato !#l "% DMD or BMD, Most doctors r#co))#%d a

d"#t s")"lar to t!at 7or a%y $ro*"%$ 'oy- 'ut *"t! ad"#t s")"lar to t!at 7or a%y $ro*"%$ 'oy- 'ut *"t! a7#* )od"0cat"o%s, A co)'"%at"o% o7 "))o'"l"ty a%d7#* )od"0cat"o%s, A co)'"%at"o% o7 "))o'"l"ty a%d*#a+ a'do)"%al )uscl#s ca% l#ad to s#(#r#*#a+ a'do)"%al )uscl#s ca% l#ad to s#(#r#co%st" at"o%- so t!# d"#t s!ould '# !"$! "% u"d a%dco%st" at"o%- so t!# d"#t s!ould '# !"$! "% u"d a%d0'#r- *"t! 7r#s! 7ru"ts a%d (#$#ta'l#s do)"%a%t,0'#r- *"t! 7r#s! 7ru"ts a%d (#$#ta'l#s do)"%a%t,

For 'oys *!o us# o*#r *!##lc!a"rsta+# r#d%"so%#For 'oys *!o us# o*#r *!##lc!a"rsta+# r#d%"so%#

or *!o ar#%.t (#ry act"(#- calor"c "%ta+# s!ouldor *!o ar#%.t (#ry act"(#- calor"c "%ta+# s!ouldro'a'ly '# so)#*!at r#str"ct#d to +## *#"$!tro'a'ly '# so)#*!at r#str"ct#d to +## *#"$!tdo*%, O'#s"ty uts $r#at#r str#ss o% alr#adydo*%, O'#s"ty uts $r#at#r str#ss o% alr#ady*#a+#%#d s+#l#tal )uscl#s a%d t!# !#art, Lo*=calor"#*#a+#%#d s+#l#tal )uscl#s a%d t!# !#art, Lo*=calor"#d"#t do#s%.t !a(# a%y !ar)7ul # #ct o% t!# )uscl#s,d"#t do#s%.t !a(# a%y !ar)7ul # #ct o% t!# )uscl#s,

T!os# o% r#d%"so%# a%d t!os# *"t! !#art ro'l#)sT!os# o% r#d%"so%# a%d t!os# *"t! !#art ro'l#)salso )ay %##d a sod"u)=r#str"ct#d d"#t,also )ay %##d a sod"u)=r#str"ct#d d"#t,


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HO> DO FAMILIES AND ;HILDRENHO> DO FAMILIES AND ;HILDREN AD UST TO DMD OR BMDG AD UST TO DMD OR BMDG

,or the hild,or the hild A%s*#r c!"ldr#%.s @u#st"o%s a'out t!# d"s#as# *!#% A%s*#r c!"ldr#%.s @u#st"o%s a'out t!# d"s#as# *!#%t!#y ar"s#- *"t! !o%#sty a%d "% la%$ua$# t!#yt!#y ar"s#- *"t! !o%#sty a%d "% la%$ua$# t!#yu%d#rsta%d,u%d#rsta%d,

Al*ays ("#* t!# c!"ld as a% "%d"("dual- *"t! t!# Al*ays ("#* t!# c!"ld as a% "%d"("dual- *"t! t!#

d"s#as# o%ly o%# as #ct o7 !"s l"7#,d"s#as# o%ly o%# as #ct o7 !"s l"7#,E) !as" *!at t!# c!"ld ca% do a%d l#t !") 0%dE) !as" *!at t!# c!"ld ca% do a%d l#t !") 0%d*ays to do t!"%$s !# *a%ts, ;!"ldr#% o7t#% 0%d*ays to do t!"%$s !# *a%ts, ;!"ldr#% o7t#% 0%dcr#at"(# *ays to art"c" at# "% s orts a%d ot!#rcr#at"(# *ays to art"c" at# "% s orts a%d ot!#r!o''"#s,!o''"#s,Tr#at !") as a%y ot!#r c!"ld- ro("d"%$ d"sc" l"%#-Tr#at !") as a%y ot!#r c!"ld- ro("d"%$ d"sc" l"%#-r#s o%s"'"l"ty- !o # a%d lo(#, Do%.t o(#r rot#ct !")-r#s o%s"'"l"ty- !o # a%d lo(#, Do%.t o(#r rot#ct !")-a%d do !#l !") '#co)# "%d# #%d#%t,a%d do !#l !") '#co)# "%d# #%d#%t,U%d#rta+# %or)al 7a)"ly act"("t"#s- "%clud"%$U%d#rta+# %or)al 7a)"ly act"("t"#s- "%clud"%$

(acat"o%s a%d r#cr#at"o%, (acat"o%s a%d r#cr#at"o%,


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HO> DO FAMILIES AND ;HILDRENHO> DO FAMILIES AND ;HILDREN AD UST TO DMD OR BMDG AD UST TO DMD OR BMDG

,or the ,a!ily ,or the ,a!ily

R#s #ct #ac! ot!#r.sR#s #ct #ac! ot!#r.s#)ot"o%s a%d str#ss#)ot"o%s a%d str#ssl#(#ls '# +"%d a%dl#(#ls '# +"%d a%d

at"#%t,at"#%t,

;o "%$ *"t! t!#;o "%$ *"t! t!#"ll%#ss "%(ol(#s a"ll%#ss "%(ol(#s a)a2or co))"t)#%t o7)a2or co))"t)#%t o7

!ys"cal- #)ot"o%al!ys"cal- #)ot"o%ala%d 0%a%c"al # ort,a%d 0%a%c"al # ort,T!# d"s#as# r#s#%tsT!# d"s#as# r#s#%tsc!all#%$#s "% t!#c!all#%$#s "% t!#classroo)- "% t!#classroo)- "% t!#!o)# a%d "% all!o)# a%d "% all

as #cts o7 l"7#,as #cts o7 l"7#,


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PRE ENTIONPRE ENTION

1#%#t"c cou%s#l"%$ "s ad("s#d "71#%#t"c cou%s#l"%$ "s ad("s#d "7t!#r# "s a 7a)"ly !"story o7 t!#t!#r# "s a 7a)"ly !"story o7 t!#d"sord#r, Duc!#%%# )usculard"sord#r, Duc!#%%# )usculardystro !y ca% '# d#t#ct#d *"t!dystro !y ca% '# d#t#ct#d *"t!a'out 89 accuracy 'y $#%#t"ca'out 89 accuracy 'y $#%#t"cstud"#s #r7or)#d dur"%$ r#$%a%cy,stud"#s #r7or)#d dur"%$ r#$%a%cy,


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PRO1NOSISPRO1NOSIS

Duc!#%%# )uscular dystro !yDuc!#%%# )uscular dystro !yr#sults "% ra "dly ro$r#ss"(#r#sults "% ra "dly ro$r#ss"(#d"sa'"l"ty, D#at! usually occurs 'yd"sa'"l"ty, D#at! usually occurs 'ya$# 9- ty "cally 7ro) r#s "ratorya$# 9- ty "cally 7ro) r#s "ratory

lu%$ d"sord#rs,lu%$ d"sord#rs,

Dysthrophy Muscular Progressive EDIT 2

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