Diagnosis

of Progressive
BY

An

PAUL

Instructional

The

the

basic

implicates

the

etiology

of muscular

are

years

families

to lead

a more

They
fiber

system

as the
and

various

normal

it

is

life arid

rso reliable

convinicinsg
weakness.

of pharmacologic

muscular

help

maximum

The

treatnssenst

disease.

with
to

by

myopathies

of muscle

of the

possible

attains

and

no form

characterized

as primary

cause

patients

Surgeons

disorders

itself

forms

managing
that

of Orthopaedic

are defined

muscle

of the

indicated

Academy

nervous

in

OHIO

of hereditary

is unknown,

in any

has

American

a group

Dystrophy

CLEVELAND,

is in the

dystrophy

experience

thirteens

M.D.*,

of muscle.

central

effective

However,

The

wasting

involvement

evidence

is considered

and

JR.,

Lecture,

dystrophies

weakness

because

VIGNOS,

Course

muscular

progressive

J.

Muscular

dystrophy

these

patients

function

for

amid

corssistenst

their

with

the

severity
of the disease.
Ambulation,
imsdepersdently
arid in braces
during
the later
stages
of the disease,
can be prolonged
in the childhood
Duchenne
type of dystrophy.
Joint
conitractures
occur
early
in the disease,
especially
ins Ducheninse
dystrophy
They

may

joints.
arid

be minimized

An
the

ercise

important
family

on

treatment

that

common

no single,

Therefore,

of

the

to the

to

use of any

dystrophy

varies,

The

diagnosis
and

stages,

for

the

drug.

the

with

a prognosis,

on

future.

It seems

diagnostic

abnormality

likely

for all dystrophies

category

in the

will

various

be

types

vary.

may

be difficult,

particularly

in the

the

patient

consulted

a number

that

of unrelated

cx-

supportive

increase
ins knowledge
of
it is possible
that
specific

be found

proper

will

diagnosis

the

patienst

of diseases

make

foreseeable

biochemical

dystrophy

to

the

of

physical

anid

a group

order

will

in the

treatment

finding

correct

a number

patient

If the

of muscular

before

in the

of
arid

counseling
In

in

abnormality

specific

it is a frequent

physicians

treated

new

proper

stretchinsg

counseling
schooling,

diagnosis.

be available

place

the

to give

counseling
depend.
With
in muscular
dystrophy,

may

ability

living,

is essential

biochemical

passive

is the

daily

accurate

diagnosis

planning
and
abnormalities

pharmacologic

and

of prophylactic
physician

of

ability

early

correct

which
realistic
the biochemical

activities

physicianss

depends

causes,

unknowns

institutions
of the

the

The

management

early

responsibility
regarding

programs.

basic

by

is made.

conditions,

has

The

patient

such

as

foot

often

vill

have

problems

early
of
beers

or slow

de-

velopment.

The
proper
approach
to diagnosis
in patients
with
muscle
weakness
is the
systematic
performance
of a profile
of tests and procedures
done in proper
sequensce.
The commonly
occurring
types
of muscular
dystrophy
are relatively
limited,
but
the

diseases

fails

with

to follow

necessary

early

dystrophy

Muscle

1212

sequence

Associate
Clinsic,

to

be

and

aided

University

at

be confused

of

subsequent

Medicine,

Hospitals,

are

numerous.

of steps in diagnosis
the correct
diagnosis.

considerably
and laboratory

clinical
Professor

may

arrive

diagnosis

can
of simple

they

proper

procedures

The
profile

which

the

or fails

management

The

of patients

by the routine
performance
tests which
have been found
Western

Cleveland,

Reserve

physicians

to perform

University

School

often
all of the

with

muscular

of the following
to be most useof

Medicine,

and

Ohio.
THE

JOURNAL

OF

BONE

AND

JOINT

SURGERY

P.

ful:

niansual

(1)

cneatinie

The

entire

for

battery
At

determinations

sificati(Ins
merst

(If

serial

(luanstitative

PhYsical

activity

A useful
iatiemits

patient
of the

poliomyelitis,

j)erhaj)s

the

first

skeletal

guide

nseuropathic

hereditary

by

rieuropathic
there

diseases

proxinial

or distal

from

tends

exceptions

to

cases
One

reflexes

neurogensic

of

to

must

this

be cautious
The

terminations
seruns

cates

a primary

suit.

of active

both

phenomena.

in

nieurogenic

suspected

diagnosis.

Unfortunately,

myopathic

sisterstly

abnormal

always
Duchennse

Duchenmie

dystrophy
VOL.

49-A,

as
NO.

6,

serum
types

enzyme

enzymes
of

content

irs only
aldola.se

dystrophy.
progresses,
1967

muscle
in

but

the

the

degree
amount

serum

slightly

the

de-

aldolase

less

reliable.

probably

muscle

mdi-

fiber

as a re-

permeability,

or

creatimse

kinsase

serum

enzyme

conicenitrationi

suggests

always
of

of

ins

primary

normal

an

distinguish

because

types

are

serum

weakness
all

that

enzyme

myopathy.

elevation
of muscle

are
incorrect

is msot a consThe

enzymes

the severe
boys with

decreases
mass

riot

between

there

one type of muscular

dystrophy,
concerstration
is elevated
ins all
The

arid

not

they

serum
are

weakness

will

as

membrane

arid

muscle

by

signs

in distinguishing
reliable

from

An elevated

neurogensic

have

rigidly

tracts.

above

in muscle
aldolase

atrophy.

elevated
The serum

disease

SEPTEMBER

increase
serum

muscular

muscular
the

enzyme

of having
nseurogensic
serum

abnormally
variety.

are

early

amid

of the

too

increased

valuable

escape

experience,

the

also

enzymes

degeneration,

never

disorders,

serum

group

may

rare in myopathy.
Testinig
of
reduction
or absence
of deep

most

of muscle
are

comigensita

is a helpful

is helpful

The

of these
with

Ins our

are

to

dystrophy.

diseases

corticospirsal

enzymes
atrophy.

transamimsases

myopathy

in a patient
the

kinase;

muscle

serum
diagnosis

concentration

categorizing

reflexes

contrast

which

of fa.sciculations

of the

muscle

differential

creatimie
of the

elevated

of the

mseurogensic

in the

; the

indication

involvement.
in

amyotonia

differens-

first

of muscular

poliomyelitis,

since they are

be helpful.
Only

imivolvememst

determination
from

about

presence

is seems ins myopathy

with

as the
amid

The

weakness

types

of all

to the

of muscle

distal

such

of dystrophy
strength

is basic

or

weaknerves.
muscular

forms
of the

pattern

various

atrophy

peromieal

weakmsess.

the

show

rule,

spinal

imivolvensent.

weakness

niyopathy
amid

a specified

has muscle
peripheral

various
test

muscle

of the

disease
of the nervous
system,
superficial
or stretch
reflexes
nsay

Elevation

for

patients

amid is of as-

perforns

as

Testing

is often

suggests

The

clas-

measure-

of the

to

such

muscle

nsyopathic

weakness

disease

some

weakness.

tendons

amid (6)

is invaluable

disease
or the

ins the

manual

characteristic

are

amid

disease,

diagnosis.

a complete

of muscle

involvement

proximal

the

out:

but
follow-up

are

carried

The

for

motor
system

category.
involvement

differential

in

disease

cause

Irequenitly

However,

excretions

ability

with mseurogensic
censtral
nervous

and

muscles

of a mieurogenic

proximal

is essential

the

results

be

Classification

Fre

that

capacity.

diagmiosis,

patients

tests.

test

should

creatinse

to

other

is essential

of the

locomotor

little

the

are included
in the second
specific
patterning
of muscle

of

implications

biopsy.

of ann ap-

age.

The
of involvement

because

principal

of

relates

it

aldolase,

muscle

selections

of the
but

progression.

capacity

it

results

urimsary

adds

of disease

disease.

Neuropathy,

tUitiOn

funictionsal

(4)

the

procedures

hour

loconsotor

the

additional

emizynses

amid

because

all the

quantitative

since

seruns

is performed,

1213

n)YsTR0PHY

first step in the differential

diagnosis
of muscle
weakness
is to categorize
muscle
weakness
as caused
by either
a primary
myopathic
disease

a nseuropathic

atrophy,
The

on

tests

excretions

diagnosis,
to

depends

two

the

performed

amid that

assessment

fumsctionsal
irs

of

twenty-four

creatinse

sistansce

MUSCULAR

electromyography,

test

these

time,

patients

urinary

(irranstitative

ness

same

of the

of the

last

ofters
of

be used

the

(3)

be the

niore

PROGRESSIVE

determination

both,

biopsy

or

of tests

appreciated.

(2)

or

one

OF

test,

should

muscle
only

(luenitly,

is

muscle

biopsy

l)rupriate

the

1)1AGNOSIS

phosphokinsase,

muscle

(5)

vIGNOS:

J.

available

ins this

for

1214

A.A.O.S.

releasing

enszyme

insto

abnormal

except

ins

dystrophy

ins the

The

aldolase

serum

the

seruns
States

dystrophy.

The

only

amid ultimately

The

the
20

conimons

Duchenne

per

cent

form

aldolase
of the

serunsi

commons
SO per

of

those

of primary

was elevated
patients
with

aldolase

forms
arsd

ins approximately

ins only

other

the

other

facioscapulohumeral

initially

but

the serum
ins one-half

experience,

are

LECTURE

However,

disease.

is elevated

dystrophy

COURSE

is diminished.

end-stage

United

linib-girdle
our

INSTRUCTIONAL

muscular

limb-girdle

cent

with

renssainss

of

types.

of patients

myopathy

is polymyositis.

initially
ins approximately
polymyositis
(Fig.
1).

Limb-Girdle

with

facioscapulolsuniseral

F. S. H.

Its

uric-third

Polymyositis

8.
7-

S.

.::..

65-

..:

Aldolase
4

Units

:.

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S

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.:.

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5555

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___

FIG.
aldolase

Serum

It is agreed
ins the
creatimie
The

of

arid

creatinie

has

that

skeletal

The

kinase.

laboratory

concentrations

generally

diagnosis

seruns

the

kimiase

the

two

advamitage

enzyme

most

of having
has

serum

reliable

determinsationss
arid

determinations
tested

arid

preferable

reactioni

because

is nsore

specific

greater

concentration

cardiac
muscle,

muscle
or cerebral
cortex
2 Aldoiase
is founsd
ins high conscenitratiors
hut it is found
also in other
nions-muscular
tissues,
such as the liver

of

The

seruns

Iii(I1)iIth\

the

serum

seruns
i1i(li(ited
gives

it

dystrophy.
prol)able

because

kimiase
there

(onscentration

a clear-cut

An
carrier

kimiase

assay

have
l)een
that
the
advarstage

elevation
of dystrophy.

than

absolute

enzyme

for

Simultarseous

made
greater

on

of creatinie
However,

aldolase

nsuscle

deternsiniat

210

patiersts

of the

detections

kinsase

of

of

lesser

kiniase

JOURNAL

arsd

OF

1sornisal ins
with
the

BONE

The

results

deterniinsat

ions

nssuscular

creatimse
ANI)

arid

aldolase

evidence

an elevated

1)100(1

diagnsusis

Duchieninie

is reliable

ins

in skeletal

ins the

disease.
of

the

amounts

()f seruns

(reatirse
carriers

to find
THE

kiniase

because

muscle

ins a mother

failure

creatinse

increase
over
as (onispared

ions

with

seruns

The

sensitive

amid relative
a given
patient

the

assav
with

to be nsore

sensitivity
ins the

sensitivity.

the

in skeletal

is believed

is a greater

of this

concenst.rations.

kinase
clearly

disease

of creatimse

creatinse

aldolase

creatirse

niuscle

seruns

clinical

evaluated.

to

reactions

for

amid

as

the

ins the

thoroughly

advocated

specificity

erszynsse
aldolase

aldoiase

cells.

of greater

dystrophy.

seruns

the

beers

beers

muscular

reliable
are

is

assay

progressive

disease

aldolase

___

in early

muscle

.55.5

55555

#{149}:#{149}.

U.,

JOINT

of a
kinsase
SIIIGE1(Y

P.

(hoes

riot

rule

or known

VIGNOS:

J.

out

the

is preferred

inivolvemenit

kinsase

tt(tiVit

creatinse

(If

seruns

(If

sli(h

with

possibility

the

or other
ins highs

is

preserst

enzymes

with

facioscapulohumeral

situata)nis

kinase
ficity

far

active

advanced

muscular

ins whom

a definite

advantage

lability

this

of

freezinig

enzyme

ns(Ire
is also

f( )rward

pr(I(edure

The

subject

serum

niotor

individual

the niumber
and rate
(lisenise
nitty
produce
activity
pointing

ins the
to
may

title

5I)ecific

creatinse

kinsase

destructions

of muscle.

dystrophy

arsd

mass

arid
creatimse

of the
elevations
Examples

a few

l)atienits

is so reduced

The

must

arid

advantages

be weighed
to

the

the

being

laboratory

than

ins spec-

against

reach

determination,

in the

useful

tool

the

firings

muscle

the

greater

laboratory

for

technically

more

relatively

straight-

ins size

during

may
It

to differentiate

the

provide

should

be

two

general

the

over-all

withini

nsyopathy

Ins myopathies,

the

contractions

amid

voluntary

increase
relatively,
opposite
direct

process.

whether

weakrsess.

whereas
lower
ions. Spontaneous

ins t he

of fibrihlations

entities

ins distinguishing

for

(lecreases

changes

disease

aldolase

determination
abnormal

specimens

is responsible

of unit

form

as

minsinsuni

aldolase.

l)otenltial

a mseurogemsic

help

raphv

blood

disease

unit

onsly

sensitivity,
ins detecting

aldolase.

kimsase

pitfalls

such

but

muscle

serum

requires

is a second

mseurors

nu)tor

the

creatinse

to more
for

electromyogram

or haver

over

serum

that

quickly.

(lifficUlt,

The

of the

of probable

serum
creatinie
diseases
with

is so small
that
only the more
sensitive
an abmiormalit
v. Relatively
few cli mucal
of muscle
disease
ins which
the creatinie

enizvnse

has

the

1215

two-thirds

emszynies,
ins liver,

minsimum

dystrophy

Uhid sensitivity

pnithic

Glycolytic

leaking
into the blood
ki nsase determiniat
ions will reveal
arise
ins the differential
diagnosis

of

i ne

(Feat

organs.
concentration

with

ins patients

those

for only

Because
of increased
to be advantageous

appears

are

is a carrier,

DYSTROPHY

liver

kimiase

she

MUSCULAR

elevations
of creatine
kimsase
The
greater
specificity
ins multiple-system

found

i)atienits

ansounit

that

are

(If

transaminiases,
serum

OF PROGRESSIVE

have abnormal
also for its

carriers

kinsase

DIAGNOSIS

an additional

helpful

stressed

that

although

types

of disease,

categories

motor

diagniostic

clue

electromyog-

it will

of

neurons
electrical

nsot differen-

myopathic

or

nseuro-

(li5es5e.

A third
1irst,

tans.

important
it usually

niotor

lOIVCl

muscle

fibrils
the

sh(Iwing

neuron,

as

evidenced

caused

by

motor

tyj)ictLl

fibers

flillscle

makes

it

test is the
determines

j)ossihle

b
unit

changes

amid

of

biopsy,
the

migratu)ni

to

an

which
disease

a histological

gives two kinds

of irsfornsais nieurogeniic
insvolving
the

picture

degeneration

inspressiomi

nuclei.

the

of

the

severity

(If

groups

of

of

is myopathic

characterize(l

sarcolemmel

(If

atrophy
disease

(If

or whether

involvement,

muscle

central
gains

muscle
svhether

l)y

necrosis

of

Second,

muscle

biopsy

(lamage

to

muscle

the

tissue.

The
pains
(livi(lUntl

hi st

j)rimary

(Table
types

The
of

muscle

disease

is the

fresh

using

These

onsly

heniatuxhini
sj)e(ial stairss,

Biopsy

iill

(Ic(asiomsallv

frozen

disease

tissue

VOL.

perfornse(1

without

(hOseli
49-A,

NO.

manual
prior

6,

sarcoid

SEPTEMBER

that
in this

are

1967

nius(le

cans

the

he

the

between

of myopathy

nemalimie

my(Ipathy

types

sufficienstly

reliably

arid

(If

by the
the

specialized
must

muscular

dystrophy.

chara(teristic

to

other

handling

microscope
(If

ins-

central
Sarcoid

diagmsosis

nit

spe(ific

niitochonidria

stairs,

electrons

the

have

be distinguished

trichronse

muscular
for

forms

wi t 1s

weakness

reliably

a histological

commons

biopsy

niuscie

fornial

For
or

nsuscle

abniornnal

that

group

Gonsori

from

rare

myopathy,

stairs.

three

by

distinguish

hints giant

required

the

usually

riot

a few of the

arid eosini
511(15 as the

riot differentiate
will the muscle

zed

(Iloes

i uclude

)lvflsvoSit
i5 unequivocally
An important
Prere(lnnisite
(nsrefnnhl\

characteri

Only

501(1 51. niyojjathy

nsivopathv

stani(lar(l
diseases

are
bioj)sy

mv(Ii)athv.

)l( Igi (nil finidi rigs.

(ore

hies

nisyopat

I).

he

used.

Onsly

differentiate

dystrophy.

selections

test.
testing.

All

of the

too

I)rl)er

frequently

\Iuscles

muscle
the

often

are

muscle
selected

for biopsy
for

is a

l)iopsy
for

biopsy

is

1216

A.A.O.S.

INSTRUCTIONAL

COURSE

TABLE
PRIMARY

MYOPATHY:

LECTURE

MUSCLE

WEAKNESS

WITHOUT

PAIN

Proximal

Distal
Frequent

Muscular
dystrophy
Ducheisne

Myotonsic

dystrophy

Limb-girdle
Facioscapulohumeral
PolynsyositiS

Steroid

myopathy
Rare

Thyrotoxic
Sarcoid

myopathy

Distal

muscular

dystrophy

myopathy

Ophthalmoplegic
muscular
Nemaline
myopathy
t
Central
core disease
t
Myopathy

with

giant

because

of

results

oftens

acuteness

onset

indicates

are

and

miegative.

type

a positive

a very

weak

end-stage

importance

of

of patients

with

with
the

selecting

the muscles
biopsied
positive
results
were
muscles
were chosen

as ins some

accessible
Ins chroisic

criteria

muscle

for

are

If the

patienits

muscle
disease,

with

correlation

in muscular

diagnosis

is a poor

muscle
used

for

the

depenids
disease

biopsy
on

polymyositis,

fat

the

is of recent

of suitable
size
such as muscular

Such
a weak
muscle
of muscle
fibers
by

of the

it is

ins order
dystrophy,

to

often
shows
onily
amid connective

positive

pathological

dystrophy

is decreased.

choice

biopsy

In

may

be

often

has

the
the

strength
chance

additions,

for biopsy.

diagniosis

series whens muscles

with sigmiificanit
positive
twice as often.
Thus,
when

poor choice
for biopsy,
because
in early muscular
dystrophy
and

this

used

biopsy

were little involved,

as shown
by a grade
obtained
in only one-third
of the biopsies
with a grade of fair or less, positive
results

histological
leg

considerations.

reasonis,

the

under

be chosen.
replacement

by

positive
involving

these

proper

muscle
biopsied
Irs this
the muscle
biopsies
were

of the biopsies.
The muscle
biopsied

This is a relatively
is well preserved

When

of the

50 per cerst strength

or fair grade
is more
likely
to
good histopathological
definition
irs chronic
disease.
The
proper
muscle
for diagnosis
was demonsstrated
in a series

polymyositis

with the strength

of the
weakness
were selected,

thirds

riot

of approximately
biopsy

findings.

as acute,

with

disease

a positive

disease

should

muscle
muscle

choice

the weakest
specimens.

select

biopsy

A muscle

tissue.

signs.

or tradition.

The

classed

to

ndria

histological

of muscle

therefore,

advantageous

obtains

and

specific

accessibility

surgical

and,

mitocho

symptoms

t Underlining

give

abnormal

Extramu.scular

dystrophy

for

of fair plus or better,

; whereas,
whens weak
were obtained
ins two-

beems the

physical

Psychologically,

attributed

by

and

any

the

gastrocniemius.

of the gastrocmsensius
of obtainsimsg
a definite

child

psychologic

future

to the

weakness

surgical

pro-

cedure.
Furthermore,
discomfort
after
the biopsy
may cause
muscle
spasm,
tensporarily
impair
walking,
and increase
contracture
of the heel cord.
The
rectus
abdominis
muscle,
which
is involved
early,
has givers
umsifornily
positive

variety.
physical

histological
This
muscle
reaction.

Performance

raphy,

arid

placed

irs one

results
in progressive
muscular
dystrophy
can be biopsied
without
apparent
adverse

of three

muscle
of the

procedures-serum

biopsy-usually
two

major

will
disease

enzyme

allow

the

categories,
THE

patient

determination,

with

neurogenic
JOURNAL

of the Duchemsne
psychological
or
electromyog-

muscle

weakness

or myopathic.
OF

BONE

AND

JOINT

to be
Ability
SURGERY

P.

to

J.

VIGNOS:

the

categorize

illness

The

of these

inigs are most

has

of

types

the

these

features

In our

literature

that

they

are

The

weakness
(Table

IiiUscles

muscles

the

(If

leg

5411(1 masseter

tinictlv

primary
commons

irs which
amid

different

\Iyotonia,

patterning
to

relax

t(I

gi rdle,
inichinded

that

the

of the

ins the

after

on

seruns
muscle

biopsy,

manual

tests

of

of this

Idenstificationi

an

aid

The

muscle

most

of the

accurate

difficult

muscle

is,

dependently
aid

the

in Class

early
univ

the

irs Class

because

children.
while

the

the

The
analyzed
phase

disease.
or

it

implied

reproducible
6,

the

frequently

ins

testicular

classified
essentially
Duchemsmse,
twenty-six
Evaluations
of these
serial
follow-up
tests of physical
electrodiagniostic

accordlimbpatients

clinical
cxperformance,
studies,

Computer

analysis

of muscle
weakness
to each of the three

ins the

irsvolvement.

early

the

(If

conimons
to
major
types.

ins the

patient

with

A patient

as having

categonnes

five

early

disease

has

of

or six years

The

scale

the

ins Class

1 cars

ins

higher

the

walk

in-

than
twenty-five
seconds
withto negotiate
stairs,
he is placed

early

disease.

dystrophy

are

of age

disease.

classifications

or limb-girdle
dystrophy
are
1 or Class
2. Ins facioscapulohumeral

regarded

manual
whether

A muscle
below.

grade
NO.

most

dis-

diagrsosis.

to confirm
the diagnosis.
have
beers performed
oni 121

standard
steps
in less
If a raihinsg is required

former

children

data
from
to determine

of the

49-A,

This

the

often

use

regarded

This
more

as havinsg
dystrophy,

differentiation

a railing

is
ins small

common

for

assistance

stairs.

strength)

because

1 are

two

Normal
climbing

cemst

severe

arid climb
eight
of a stair railing.

patients

temporahis

occurs.

examinations,

involvement

is diagnosis

2. Patients
with Duchennse
disease
if they
are in Class

made

peroneal

diagnosis.

problem

more

muscles

arid

suggests

strength.

patterns
peculiar

proximal

of the
also

early (lisease
cars be defined
by use of a standard
functional
patients
are graded
on a scale of 1 through
10. On this

number

VOL.

patterning

irs early

Atrophy

is seers

patient
sample,
severity-eight
dystrophies.

a complete
history
amid physical
examinations,
at three-month
intervals,
serial functional
aldolase
arid
urinianv
creatimie
determinations,
serial

tibial

critical

a commons

ins the

slit-lamp

ins males-help
evaluations

on

of distal

generally

amisinsationis

arsd

weak-

a more

is found

facies,

contraction,

data
has demonstrated
a characteristic
all dvstrophiies
and a patterns
of weakness

of
find-

muscle

weakness
anterior

hand.

skull-like

weakness

a muscle

speed

clinsical

However,

early

of the

lesiomss-cataracts

usual

variations

usually

nsuscles

finn!amid

arid

individual

produce

with

a typical

may

clinical

The impressions
conveyed
irs the
of the major
types
of dystrophy

is weakness

with muscular
dystrophy.
The
the scheme
of Walton,
included
arid evemsteers
facioscapulohumeral

l)atiensts

which

the

limb-girdle,

much

myopathies

of muscle

Noni-nsuscular

the

so

diseases

atrophy,
arid j)remature
frontal
baldnsess
Over a period
of thirteens
years
serial

term

narrows
dystrophy

on

of onset,

characteristic.

the

distal

based

age

patterns

myopathy

producing

inisibihit

hands.

the

there

ins the

muscles,

of muscular

heredity,

for diagnosis.
of weakness

completely

only

dystrophy

is nsivotomiic

overlap

that

irs the

I). The

type
is usually

to

experience,

look at the evidence

suggests
thense
of nsuscle
weaknsess.

out

greatly

dystrophy-Duchennse,

respect

most reliable
basis
is that
the patterns

so distinctive

been

1217

DYSTROPHY

of disease

specific

dystrophies

muscular

with

helpful.

beers

medical

big

MUSCULAR

two

of the

of the

forms

However,

progression.

the

PROGRESSIVE

diagnosis

classifications

inigs. The
principal
facioscapulohumeral-differ

are

as one

differential

However,
(lifficlilt.

msess

OF

possibilities.

diagnostic

he

DIAGNOSIS

SEPTEMBER

This

muscle
specific
was
grade

significant
in the

standard
1967

tests of the patients

muscles
were involved

defined
was

functional
nsuscle

as involved
selected

impairment
testing

as

with early
or spared

if it was
indicative

and
examinations.

disease
at this

graded

fair

of definite

was

the

most

Muscles

were
early
(50

per

weakness

reliably
described

1218

A.A.O.S.

INSTRUCTIONAL

COURSE

TABLE
PATTERNS

iIUSCLE

OF

WEAKNESS

Neck

AND

Commons

ins all

Lower
Middle

groups

II

SPARmNG

mN EARLY

and Up per Extremity

Involved

LECTURE

MUSCULAR

Trirnik anid Lower

Involved

Spared

trapezius
trapezius

Neck

1)YsYRonHY

extenisors

Extremity
Spared
Gastrocniemius

Tibialis

posterior

Toe
Common
in
Ducheninse

Rhomboids
Latissimu.s

arid

limb-girdle

Upper
Biceps

dorsi

Inward

rotators

Anterior

neck

trapezius

Gluteus

Hip

flexors

maximus

adductors

Triceps

Unsique pattern.s
l)uchersnse

Anterior

(SCM)

fiexors

Limb-girdle

Facioscapulo-

Upper

humeral

Ilanist

rings

Back

extenisors

abdominsals

pectoralis

Brachioradialis

Gluteus
Tensor
Iliopsoas

Lower

Tibialis

major

pectoralis

medius
fasciae

latae

anterior

major

Iliopsoas

(iluteus me(lius
Tensor
fasciae
latae
Quadriceps

Early:

functional

classes

the facioscapulohumeral

muscle
t
as

grade

wrist

involved

were

plus

group

All

found

cent

or

limb-girdle

fair

or below

more

whereas

ins 90 per

muscular

of

types;

functional

ins 66 per

the

muscles,

cent

has

the

cent

Class

of tests.

examinsationis
described

ins

Spared:

of

patients

as spared

or more

of examinations

defined

by

(graded

ins this

A commons

middle

were

of muscle

II),

early

nsamely

of the

neck

criteria

same

extensors

of the

muscles.
foumsd irs all

arid

certain

early
proximal
the impressions
types

of early

muscle
tests,
however,
a commons
patterns
of

involvement

trapezius
was also

mansifest

in differemst

analysis
of manual
of dystrophy
have

of sparing

the

weakness

Computer
three
types
part

patterns

spared

these

is proximal
in distributions.
This
been
reported
in the past,
but

patterns

(Table

amid the

dystrophy

that

quite
distinct.
actually
the

iisvolvememst

muscles

found

is that

are
that

muscle

per

disease,

weakness
in dystrophy

conveyed

trapezius

ins 66

of early

of muscle
weakness

dystrophy
revealed

and

muscles.

early

were

grade
of tests.

patients.

types

pattern
muscle

muscle

ins 90 per cent

hand

as having

or above),

of

oftemi

and

2 in Duchensne

Involved:

fair plus or better

Excluding

characterized
fair

1 arid

type.

types

muscles

lower

part

of

of dystrophy.
of the

the

The

posterior

com-

of the
leg, specifically,
the gastrocnemius,
posterior
tibial,
arid toe flexors.
Therefore,
ins a givers patient
suspected
of having
muscular
dystrophy,
if the eonsmoms muscle
pattern
of involvement
is not seems, or if the muscles
usually
spared
are
involved,
one should
consider
it a strong
possibility
that the patienst
has some other
form
of muscle
disease.
partmemst

The

early

volvememit
lower

extremity

tensor

fasciae

exclusively,

Early

dorsi,

disease

arid

flexors

of the

The
the

of muscle

neck

weakness
latae.

was spared
Irs limb-girdle
ins the

patterns

anterior

were

latissimus
muscle

unique

of the

anterior

muscles
lower

and

inward

in this

shoulder

middle

parts

An

of dystrophy

early
was

also

ins Ducheninse

abdomimsals

of the

rotators.

type

dystrophy,
there

weakness

(sterniocleidomastoids)

unique

and
that
of

the

pattern
THE

JOURNAL

gluteus

was
trunsk

early,

trapezius,

the

was

ins-

arid

medius

involved

finding
the

involvement

a commons

of the

were

important
except

dystrophy
amid ins the

ansd
but

riot

rhomboids,

that

rio

sinsgle

hamstrings.

of the
of muscle
OF

BONE

iliopsoas

was

involvement,
AND

JOINT

founsd.
but
SURGERY

P.

vIGNOS:

J.

it was

rsot. unique

(bided

the

iniward

rotators

1)nAGNOSIS

since

lower

arid

lower

extrensities.

as

the

brachioradialis.

it was

middle

ins the

the

shoulder
The

shows

the

stage

(If

thse disease,

major

Patients

restricted

amid the

arid

early

gluteus

is perhaps

involvement
shoulder

areas
of

the

best

found

ansd

ins the

facioscapulohumeral

this

upper

hip

adductors

more

ins

of dystrophy

type

of dystrophy
In

the

of the

tibial
was

insarid

form

part

anterior

had

dorsi

insvolvemerst.

girdle

disease

patterns

defined

ins the

shoulder

This
latissimus
arid

by

of muscle

was
the

maximus

spared

patternsinsg

inivolvensenit

early

rhomboids,

uniquely

1219

DYSTROPHY

dystrophy.

trapezius,

muscle

earls

unique

neck

The
with

girdle,
omily

MUSCULAR

seems ins Duchemine

of the

dystrophy

most

ins the

trensitv.

PROGRESSIVE

also

parts

Facioscapulohunseral
arid

OF

ins the

oftems

early

l)ectoralis
lower

cx-

asymmetrical.

muscles

uniquely

spared

the

l)atienit
with
either
of the other
two types
of dystrophy.
The upper
cxtreniitv
sh(Iwed
sparing
of the lower
part
of the pectorahs
major,
the inswar(i
rotators
arid deltoid.
The nsuscles
of the trunk
ansd l)elvic
girdle
which
were uniquely
spared
than

included

thie

back

shnnld

cxtcnssors,

iliopsoas,

giuteus

niake

Evens when
the patterns
of peripheral
diagnostic
problems;
but these
nitty

he

The

niusculature.

diagnosis

l)eciahlV

by the Iresemice
nsisi- l)e asvnsmetri(al.

rsess

(Iris.

Later,

lids were
Duchenimie
this

closed
type

tended
the

of

iniv(Ilvensenit

fn

Ifli

was

The

the

the

striking
be

subtle

arid

mouth

muscles

the

type.
facial

muscles

there

insvolvensemit

the

The

symmetric
mouth

nsost

during

difficult

Duchennie

dystrophy

panti(ularly

difficult
age of ten

before

the

tern
these

diseases.

also,

The

the

for

There
was
dystrophy.

seruns

overlap

A much
uniquely
gn(Iup

of

diagnostic

frons

the

fli(Irc

of the

aidolase

tended

a high

subtle

were

well

preserved

zygomaticus

problemis

is muscular

form

since,
serunsi

PreviouslY

height

ins Ducheminse
thirty-eight

The

arid

average

1 15, arid

lectual

the

retardation

patterns
1)assivity,

mansifested
arid lack

Von

NO.

49-A,

cles(ribed

abnormal

the
but

by inivolvensenit
sniile.

Absence

the

arid

Duchemsnse

only

which

rarely

raises

the

enszyme

differential

intelligence

was

ins Ducheninse

Point

highly

ins the

significant

dystrophy

was

This

favored

enszymes
diagnosis

of Duchemsnse

intellectual
intelligence
dystrophy

found
ins a variety
and children
with
groups

statistically
froni
Children

level,

seers

quotient
of a
was eighty-

of control
mseurogensic
varied

associated

the

helpful

dystrophy.

decreased

often

was

ins Ducheninse
the

control

is

may
occur
The
pat-

aid ins distiniguishinig

primary

as high

diagnosis

dystrophy
be elevated.

of serum

twice

is the

by dependency,
withdrawal
of anshitioms
arid sponstanseity.
n967

of

the
may

dystrophy.
The
means
with
Ducheninse
muscular

quotients

was

fornss,
levels

level

is to distinguish

dystrophy

elevations

to be over

serum

muscular
children

difference

6, SEPTEMBER

eye-

niuscie

ins children.

ins both
emizynse

three
which
was strikingly
different
front that
ins(ludinsg
nsale siblinsgs,
children
with diabetes,
disease.

when

manifest
differentiate

limb-girdle

ins ynnnig
boys
years
amsd the

but

the

patients
with
facial
muscles,

transverse
to

ap-

ohicularis

sniilirsg.

inivolvensenit

nisuscle

(If

being

helped

of the

asymmetric

that

The
the

of

esweak-

of the

result

a peculiar

eye

the

of weakness
the

there
nsay
the facial

Initially,

finsdimsg was
with

caused

arounsd

the

of

insvolved

amid

insstarsces

is supported

expression.

because

svnsmetrical

that

t lie facioscapulohunieral
Ins hinish-girdle
disease,
slight

early

whistling

nsight

latae,

ins most

dystrophy
of facial

a rim of white
sclera
was visible.
also showed
early
insvolvensenst
more

around
of

niost

oculi

lightly,
(If disease

mssuscles

corners

fasciae

muscle
insvolvemenst
is kniowni,
be solved
by exansinsations
of

of nsuscles

on attempted

to be nsuch

(If

tensor

facioscapulohumeral

(If

of weakness

of the mouth
the (Ihi(ularis

pearansce

medius,

These
pattermss
of nsusclc
involvement
amid sparing
it. possible
to diagnsose
the type of dystrophy.

(lt11dmi(el)5.

groups
muscle

between

107

This

relative

with

a PersonalitY

outside
world,
with limb-girdle

intel-

inscreased
dystrophy

1220

A.A.O.S.

tended

to

typed

have

niore

Duchenne

difficulty

ings,

laboratory

closely

the
series

The

very

course

with

disease

of muscle
seen

ins any

types

irs polymyositis.
patients

with

to high

dose

high

doses

sufficiently

the

was

with
to

rsever

if the
sixty

there

of

seen

drug

was

importaist

of the

cases

also

inivolved

from

the
was

any

of

early
The

pattern
nseven

one-third

the

except

a definite

givems early

in the
equivalent).

of Contractures

in

seers
of the

dystrophies

of prednisone

ins the
patterns

standard
almost

showed

ins

to be insvolved

muscles

polymyositis.

usually

milligrams

tended

in

simulate

certaims

cent

in approximately
in

may

were

weakness

seers

pains
finid-

difficulties

are

of these

to vary

was

appear,

muscles

muscle

polymyositis

corticosteroids
(fifty

tended

is cxniansifesta-

weakmsess

extenisors

diagnosis

Facial

but

not

neck

These

also

stereo-

dystrophy
cutaneous

in 70 per

Weakness

in swallowing

patients

the

patients

of dystrophy.

the

do
but

and

toward

into

patients,
arid muscle
If these
ancillary

of muscle

involved

of dystrophy.

polymyositis,
Finally,

response

were

point

Difficulty

terminally.

dystrophy,

ins polymyositis

other

features

extensors

the

fall

muscular

of the
patients

patterns

muscular

of

form

should

weakness

irs the

both

polymyositis,

one-third

late

of

of

riot

amid other

of the

over-all

did

of

rashes

one-third

one-half
or

back

of patients

approximately

only

in only

The

forms

points.

diagnosis
of skin

in only

be marked.

various

differential

appears

abnormalities,

may

and
pattern.

differential
presence

appear

LECTURE

quotients

of personality

the

The

may

diagnosis

in

in

edema,

including

or tenderness

COURSE

intelligence
type

of polymyositis.

tions,

our

rsormal

childhood

Another
elusion

INSTRUCTIONAL

clinsical

disease

amid ins

References
K. C., and

1. ARcHIBALD,

Arch.

Phys.

Med.

2. CoLoraBo,
J. P.;
und diagnostische

3.

and

VIGN0S,

Rehab.,

RICHTERICH,

Bedeutung.

P.

J.,

JR.:

A Study

40 : 150-157,
R.; and RossI,
Kim.

Wochenschr.,

Muscular

Dystrophy.

1959.
E.:

Serum-Kreatin-Phosphokinase:
40 : 37-44,
1962.

Bestimmursg

J. M. S.; PENNINGTON,
R. J. T.; and WALTON,
J. N.: Serum Enzyme
Studies
ins
Muscle Disease. III. Serum
Creatine
Kinase
Activity
in Relatives
of Patients
with the Duchensne
Type Muscular
Dystrophy.
J. Neurol.,
Neurosurg.
and Psychiat.,
27 : 181-185,
1964.
4. SHY, G. M., and MAGEE,
K. R. : A New Congenital
Non-Progressive
Myopathy.
Brains,
79:
PEARCE,

1956.

610-621,

ENGEL,
W. K.; SOMERS, J. E.; and WANKO,
THEODOR:
Nemaline
Myopathy.
A
New Congenital
Myopathy.
Brain,
86 : 793-810,
1963.
6. SHY, G. M., and GONATAS,
N. K.:
Human
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THE

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