MYOPATHIES

MYOPATHIES: - biochemical changes in fiber or interstitial tissues of ms; not due to C S! P S! neuromuscular lesion - most common "rimar# S$: "ro$imal limb %ea&ness - '() cure

*YST+OPHIES: - hereditar# , "rogressi-e degeneration and ms %asting - "athogenesis: un&no%n - classification: a.) $(lin&ed recessi-e: ( *uchenne! /ec&er! Emer#(*reifuss b.) autosomal dominant ( 0aciosca"ulahumeral! sca"ulo"eroneal! m#otonic! oculo"har#ngeal c.) autosomal recessi-e ( limb(girdle

MUSCULAR DYSTROPHIES

TYPE
A.) a&a /.) Mode of inheritance C.) Incidence *.) Pathogenesis E.) Age at "resentation 0.) Signs at "resentation

DUCHENNE
Pseudoh#"ertro"hic M* or 1ender(lin&ed recessi-e M* $(lin&ed recessi-e 567!888 li-e M births :n&no%n: $";5 '"atho"h#siolog#) 9(7 #6o 9 "hases: a.) Ambulator# "hase ' earl# stage) a5.) earl# ambulator# "hase ' before 7 , >#6o)
- %ea& "el-ic(girdle ms '5st)( glutei '%addling gait)! <uads! a$ial ms 's%a# bac& "osture) - can?t rise fr lo% chair or floor '1o%er?s sign) - "seudoh#"ertro"h# '=8@)

BECKER
$(lin&ed recessi-e 5678!888 M births :n&no%n; $";5 58(57 #6o ( "ro$ , distal %ea&ness ( "el-ic(girdle '5st) then shoulder girdle ( "seudoh#"ertro"h# (res"irator# failure:rare (ambulant ;nd or 9rd decade

EMERY-DREIFUSS
Humero"eroneal M* $(lin&ed recessi-e 56588!888 M births :n&no%n; $<;= Earl# childhood (classic triad: a. earl# contractures ' elbo%! Achilles tendon! "ost cer-ical) , ti"toe! e<uinus b. cardiac conduction defect c. %ea&ness or atro"h# : humero"eroneal distribution

FACIOSCAPULOHUMERAL
*e2erine(3andou4# Autosomal dominant 9(586million :n&no%n ;nd decade or an# time (facial %ea&ness'5st) , 57#6o to tra"e4ius and "ectorals also shoulder girdle %ea&ness ( %ristdro"; mar&ed %inging of sca"ula ' "rimar# disabilit#)

a;.) 3ate ambulator# "hase ' age A #6o)

- '() stair climbing; '() %al&ing - shoulder(girdle %ea&ness

a9.) /race %al&ing "hase ' age =(58 #6o)

- %al&ing6standing %ith brace - 'B) %riting60A acti-ities - scoliosis 5st a""arent

b.) C6C "hase ' middle stage) ' age 5; #6o)

- hand function difficult# - com"letel# de"endent A*3 - res". f$n im"aired

c.) late stage 'de"endent) ' age 5>(;8 #6o)

- chest inf$n; cardiac failure

1.) Other manifestations6 associated findings H.) 3ab findings

intellectual im"airment ' 98@) macroglossia CD increased'988(E88$normal) '()d#stro"hin EC1 abn; ms fiber conduction decreased S C normal "rogressi-e short; die: ;nd decade; sur-i-al rare be#ond mid(;8s res"irator# '5st); cardiac ';nd) %orst

Cardiac disease ' earl# age or adulthood) Intelligence normal Same as *uchenne

Cardiom#o"ath# /rad#cardia CD 6d#stro"hin normal; "redominance6atro"h# T#"e I Slo%l# "rogressi-e +elati-el# benign Sur-i-al: middle age

Sensorineural deafness +etinal -ascular changes 'telangiectasis6detachment) EC1 normal; C& increased ' ;(E$ normal) , 78@ Insidious; -ariable;mild;arrest ma# occur ormal

I.) Clinical course F.) 3ife s"an D.) "rimar# cause of death 3.) Prognosis

Slo%l# "rogressi-e Mild ' >8 #6o); se-ere ' ;8s) cardiac failure +elati-el# good Ambulant : ;nd or 9rd decade

Some unable to %al& %hen the# reach adulthood

TYPES
A.) a&a /.) mode of inheritance C.) incidence *.) "athogenesis E.) Age at "resentation 0.) Signs at "resentation

SCAPULOPERONEAL
Autosomal dominant un&no%n Adult life Pro$ :E %ea&ness distal 3E %ea&ness footdro"

MYOTONIC
Autosomal dominant 9(76588!888 :n&no%n; chromosome 5H 3ate teenage or earl# adulthood '57(E8#6o) ("rogressi-e ms %ea&ness'distalI"ro$) ( facial %ea&ness ( m#otonia , m#otonic "henomenon ( "t den# or minimi4e %ea&ness or m#otonia cataract'H8@) gallbladder "roblem smooth ms abn consti"ation cardiac abn MK0: infertilit# 0: menstrual "roblems Slee" disturbance Habitual abortion *M CD increased EC1 abn ("rogressi-e o-er 57(;7 #ears

OCULOPHARYNGEAL
Autosomal dominant un&no%n Earl# middle age (Ptosis'5st) (*#s"ghagia! facial %ea&ness! "ro$imal limb %ea&ness ' later) ("u"illar# reaction: s"ared

LIMB-GIRDLE
Autosomal recessi-e MG0 :n&no%n ;nd or 9rd decade (hi" ms %ea&ness '5st) (shoulder girdle %ea&ness ';nd) Jsca"ular %inging ' ma2or feature) ("seudoh#"ertro"h# '569) (facial ms s"ared (cardio"ulmonar# difficulties (intellect normal

1.) other manifestations6associated findings

H.) lab findings I.) clinical course F.) life s"an D.) "rimar# cause of death 3.) "rognosis

(cardiac in-ol-ement 'later life) ( CPD increased /enign

CPD 7$ normal Ms bio"s# (-acuoles

(sudden cardiac arrh#thmia on(disabling

(CD increased and lactic deh#drogenase 58$ normal (EC1 normal (-aried (slo% or ra"id course (continuousl# "rogressi-e ( shorter; se-erit#: intermediate ( cardio"ulmonar# c$

FUNCTIONAL GRADES (MUSCULAR DYSTROPHY) 5.) :PPE+ ELT+EMITY 1+A*ES ACTIO S 5 , Starting arms at sides; "atient can abduct arm in full circle , o-erhead ; , +aise arms abo-e head b# using elbo% fle$ion or accessor# ms 9 , Can?t raise hand abo-e head but onl# ;E8ml '=o4) glass of H;O to mouth ' or %ith both hands) E , +aise hand to mouth but not an = o4 glass of H;O 7 , Can?t raise hand to mouth but hold a "en or "ic&(u" coins from table > , Can?t raise hand to mouth and no useful hand f$n ;.) 3OCE+ ELT+EMITY 1+A*ES ACTIO S 5 , Cal&s6climbs stairs %ithout assistance ; , Cal&s6climbs stairs %ith aid of railing 9 , Cal&s6climbs stairs slo%l# %ith aid of railing ' 5; sec , E stairs) E , Cal&s unassisted! rises from chair! can?t climb stairs 7 , %al&s unassisted! can?t rise from chair or climb stairs > , %al&s onl# %ith assistance or %al&s inde"endentl# %ith 33/ A , Cal&s in 33/! re<uires assistance for balance = , stands in 33/! unable to %al& %ith assistance H , %6c ,borne 58 , bed(bound 5.) ;.) 9.) E.) 7.) DIAGNOSTIC TESTS IN MUSCULAR DYSTROPHIES CPD serum en4#me determination EM1 Muscle bio"s# EC1 Pulmonar# 0unction Tests

MANAGEMENT ( MUSCULAR DYSTROPHIES) 5.) *:CHE E M:SC:3A+ *YST+OPHY - '() cure a. Pharmacolog#: ( slo% "rogression ; "rimar#: steroid ' "rednisone ) ; alternati-e: defla4acort b. S"ecific managements: /5. Mentilation ( median age of death: 5= K ;7 #6o ( chronic res"irator# insufficienc# ( res"irator# assistance initiated: MC decrease ;8@ of normal B h#"erca"nia ( glosso"har#ngeal breathing or frog breathing ' OTE: intact oro"har#ngeal muscles) /;. Contracture ( A=@ an&le! >A@ hi" and &nee! >7 @ elbo%! EE@ IT/ and %rist ( /A0O B regular stretching ( standing ' e$cellent stretching acti-it# ) /9. Mobilit# ( A0O or ischial %eight(bearing "lastic DA0O %ith loc&ed &nees /E. Scoliosis ( 78@ onset ' 5;(57 #6o) ( bracing ' not effecti-e) ( correction: s"inal fusion ( most: 3u<ue rod %ith double sublaminar %ires! unit rod fi$ation and "lacement of bone graft , ; nd da# mobili4ation ( 5 %& "osto" ( "lastic bod# 2ac&et ' %6c) /7. 3oss of strength ( ambulation ceases : strength decrease b# 78@ ( im"ortant: hi" abductors and &nee e$tensors />. E$ercise ( tension6da# N ;8@ of ma$ ( decrease strength ( "re-ention : o-er%or& %ea&ness ( earl# /A. Hand function ( /0O ' for "ro$imal %ea&ness ) ( finger mo-ement continues ;.) /ECDE+ M:SC:3A+ *YST+OPHY ( steroids; surger#; bracing K %6c ; e$ercises 9.) EME+Y , *+EI0:SS M* ( "acema&er ' critical t$) ; bracing; e$ercises E.) 0ASCIOSCAP:3OH:ME+A3 M* ( %ea& e#e closure! dr#ing of sclera! facial %ea&ness , "lastic surger# ( sca"ular fi$ation ( orthosis ' A*3 ); e$ercises 7.) OC:3OPHA+Y 1EA3 M* ( s%allo%ing difficulties ( nasogastric feeding >.) 3IM/ , 1I+*3E M* ( -entilator# assistance ; e$ercises

INFLAMMATORY MYOPATHIES

TYPES
A.) Incidence /.) Etiolog# C.) Age at "resentation *.) Signs at "resentation E.) Other manifestations6associated findings 0.) 3ab finding 1.) *$ criteria H.) Clinical course I.) "rognosis

POLYMYOSITIS
765!888!888 :n&no%n Adults ( ms aches; ms %ea&ness ' 3E ms , :E ms)! "ro$ , distal; ms tenderness; '() rash; calcicosis ( neo"lasms ' 58(;8@); -asculalitis; m#ocarditis; ra#nauds "henomenon; d#s"hagia CD increased ' H8@); m#oglobin and ES+ , abn; ms bio"s# abn '() famil# h$; "rogressi-e; affected b# meds; "ro$ limb %ea&ness B d#s"hagia; ms bio"s# abn; increased irritabilit# of ms Mariable and less se-ere; "rogressi-e Jcom"licated b# some unfa-orable "rognostic factors

DERMATOMYOSITIS
765!888!888 un&no%n /imodal: childhood and E8s and 78s or at an# age Same as PM but 'B) rash; ms %ea&ness childhood ( se-ere Same as PM B childhood dermatom#ositis Same as PM Presence of rash Mariable and more se-ere; more acute in onset /enign Jcom"licated b# some unfa-orable "rognostic factors; M+ 99( 78@

SARCOIDOSIS
9(786588!888 :n&no%n EE #6o ( "ro$ %ea&ness; "al"able nodules; cutaneous anerg# Hilar l#m"hadeno"ath# CD normal or mildl# increased; needle EM1 abn; serum globulin increased ' 78@) Cutaneous or l#m"h nodes; granuloma; ocular h$; d$ test: cutaneous D-eim test

CONGENITAL MYOPATHIES

TYPES
A.) 1enetic /.) Abn gene C.) age at "resentation *.) signs at "resentation A*

CENTRAL CORE
A* 3ong arm of chromosome 5H After birth (flo""#; CH*; refle$ normal or decreased; s&eletal deformities

NEMALINE
3ong arm of chromosome 5 /efore 5#6o (h#"otonia %ith %ea&ness; t#"ical facial a""earance; clubft and D#"hoscoliosis; nasal -oice

MYOTUBULAR
5st form:A+ ;nd form: L3+ 3ong arm of $(chromosome';nd) (as to forms: a.) 5st form: h#"otonia; %ea&ness; "tosis! o"hthalmo"legia! generali4ed facial %ea&ness! e<uino-arus; sei4ures b.) ;nd form: ( res". failure; %ea&ness face; "tosis; s"ontaneous abortion and stillbirths CD normal or slightl# increased

CONGENITAL FIBER
A*;A+ Childhood - flo""iness %ith %ea&ness; - CH*; res". inf$n; refle$ decreased or absent; cogniti-e intact - later: atro"h#! ft deformities! scoliosis

E.) lab findings 0.) clinical course 1.) life s"an6age of death

CD normal; t#"e I "redominance Mer# mild normal

CD normal or mildl# increased; ms bio"s# , t#"e I "redominance Mariable; slo%l# "rogressi-e Young adulthood'res" failure)

CD normal or slightl# increased; T#"e I ' 57@ smaller than t#"e II; t#"e II more uniform in si4e

5st form: adulthood; ;nd form: 5st #r

METABOLIC MYOPATHIES

TYPES
A.) a&a /.) genetic C.) En4#me abnormalit# *.) incidence E.) Age at "resentation 0.) signs at "resentation

MUSCLE PHOSPHORYLASE DEFICIENCY PHOSPHOFRUCTOKINASE DEFICIENCY

T#"e M 1l#cogenesis! Mc Ardle?s *se A+; some A* "hos"hor#lase MI0 '9:5) 3ate "eriod of 5st decade Cea&ness; e$ertional cram"s and m#algia;e"isodic e$(induced s$ T#"e MII! P0D* A+ "hos"hofructo&inase

ACID MALTASE DEFICIENCY DEBRANCHING ENZYME DEFICIENCY

T#"e II gl#cogenesis! AM* A+ Acid maltase (as to form: infanc#! childhood! adulthood (as to forms: a.) 5st or infantile form (se-ere h#"otonia! enlarged tongue! heart and li-er b.) ;nd or childhood(onset t#"e ("ro$ limb K trun& %ea&ness (li-er! tongue enlarged (res" in-ol-ement c.) 9rd or adult -ariet# ("ro$ %ea&ness (res" failure Increased CD increased; EM1 fibrillation; EC1 abn; T#"e III gl#cogenesis! *E* A+ *ebranching en4#me deficienc# Infants (h#"otonia %ith "ro$imal %ea&ness

E"isodic e$(induced s$ same as T#"e M

1.) associated findings H.) lactate res"onse to ischemic e$ I.) lab findings

(renal failure; 'B) m#oglubinuria o rise CD increased; EM1 fibrillation; increased gl#cogen in ms

(2aundice; hemol#sis o rise Same as T#"e M

( he"atomegal#; heart dse o rise