1966
NOVEMBER,
INCREASED
THICKNESS
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DUCHENNE By
M.D.It
refinements
and classification more precise. I
.
of
( a) ( b)
the
autosomal
(b)
sporadic
The
most
Other
asymptomatic “carriers” and volvement only
dys-
also
called
trait
pro-
and
the
I)isorders
which
is
as
a sex-
transmitted
female heterozygote which produces clinical inin males. The disease begins
I
99
of
coxa
rami
of
the
these
osseous
until
recently
ered not ity.”2’4”7’8’9”4
valga,
they
be
the
disuse,
of
short
of
but
generally
consid-
to muscle finding of
inactivsimilar
bones
of4
cases
dermatomyositis
absence
vertical
pathogenesis
were
extremities,
2
of the hypoplastic
is unknown
due The
and Warnick12 abnormalities
of poliohave
to suggest that are secondary
of
normal
stress
on
led
the to the
osseous attachments of muscles and to the postural deformities resulting from muscle weakness and contractures. In 1963 Kaufmann6 reported an unusual widening of the fibula in its anteroposterior diameter in 9 patients with pseudohypertrophic muscular
tendon Limb
and the knee and elbow joints. girdle dystrophy affects either sex, begins in the second decade or later, and usually follows a milder course. Facioscapulohumeral or Landouzy-D#{233}jenine dysthe facial muscles and pelvic girdle
and The
abnormalities to
to
bones,
mandible.
Walton skeletal
Achilles
rarefaction
of long
and
steadily,
upper
bones,
heads
in the long
progresses
involving both lower and and leading to contractures
of long
and
changes
stairs.
disease
shafts
myelitis
ing
at first muscu-
dystrophy,
ages
7 to
years.
17
later. MATERIAL REVIEW
Since
the
Ij
5
scapulae,
frequent
inherited
in walkin climb-
latune
I
Neurologic
shafts
in childhood with clumsiness frequent falling and difficulty
trophy involves and the shoulder
.3
Total
muscular
early ing,
The
25
Girdle
Normal
severe
is usually
by
Patients
Facioscapulohumeral
dystrophy
variety,
recessive
of
dominant
is the
It
subgroup. linked
No.
Dystrophy
Limb
pseudohypertrophic
dystrophy,
Diagnosis Muscular
muscular
Duchenne or
are:’#{176}”
Duchenne
Facioscapulohumeral
gressive
I EXAMINED
dystrophies
recessive
trophy ( a) autosomal
M.D4
TABLE
dystrophy
muscular
S. HARRIS,
PATIENTS
recessive recessive
girdle
( a)
WILLARD
made
subgroups
muscular
IN
OHIO
genetic
have
muscular
major
sex-linked autosomal
Limb
3.
criteria
The
Duchenne
2.
of clinical,
biochemical
FIBULA
DYSTROPHY*
and
COLUMBUS,
R ECENT
THE
MUSCULAR J. HARRIS,
VIVIAN
OF
I
first
873,
autopsy
boy with formities including
Departments
THE
LITERATURE
when Fniedreich3 findings in an
muscular have been scoliosis
the
OF
dystrophy, reported of the
B
From
ofRadiology
t
Assistant
Professor
of Radiology.
:1:Assistant
Professor,
Department
Ninety-nine
described I 8 year
survey cular
old
and
ofMedicine,
narrowing Medicine,
Division
of Ohio
METHODS
patients I).
The
dystrophy
are 29
comprized
Duchenne type, 3 with with facioscapulohumeral
skeletal deseveral times,
spine,
(Table
AND
dystrophy
State
University
of Cardiology.
744
patients Hospitals,
Columbus,
included
patients
mus-
with the limb girdle and i dystrophy. In all 25
anteroposterior Ohio.
in this with
and
)5,
\OI..
l)uchenne
No.
:
0 F F! lU LA
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\o.
NeuNormal
I
I)isorders
0T±#{176}.’5
745
RATIO
rornuscular
l)vstrophv
‘1’
( r11r)
II lIlA
Other l)uchenne
l)vstrophv
II
IAIILE M E \ N VA i.:
Muscular
o.5±o.o-
O.c’)±O.II
of ci
J(j
Patients
25
lateral ti bulae
,
roentgenograms
of
chest
tile
a
pos
teroan
and
roentgenograms
tional
.Addi
of the skeleton clinically. iTtacil physical
roen
the
tibiae
were
taken
patient
were
lateral made.
of other
parts
when indicated had a llistory and I
seruni
and
tgenogram
an(l skull
tgenograms
examinatioll,
cardiograni and kinase determination.
1)0th
or
posteroanterior of
retl
of ten
crea
2-lead ti ne
electro-
phospho-
II(;.
2.
01(1
Lateral boy with
phy. He is in a wheel chair. throughout most of its shaft.
comparison,
For formed Ileu
in
and
ica, cular
disease, hereditary
trauma
cases
l’ic.
anteroposterior roentgenograrns fibula in an 8 year old boy with l)uchcnne muscular dystrophy verified l)\ a mvopathic eiectromvogram. Symptoms hegan at the age of I year. The fibula is thickened in lateral view although normal in frontal view. I.
(1)
Lateral of the
and tibia
(B) and
used ratio,
to
and
which
was
anteroposterior
normal
by
the
diameter
of the
who
smallest tibia.
of in
were
siblings of
of
i
free
subjects
of
were
of affected the
the fibula/tibia calculated as diameter
(livided
nitiS-
obtained
‘These
roentgenograms determine
also
years)
1-23
spinal
roentgenograms
were
disease.
patien ts. Lateral
Charcotdvstroph-
proximal
fibula
(ages
neurologic
\Verdnig-Hoff-
in votonia
Lateral
and
subjects
:
also perfoliowing
poivmvositis,
atrophy.
tibia
were the
Witil
disorders
disease,
\Iarie-Tooth
the
studies patients
19
uscular
rom
mann
fibula in a I 7 ear muscular dystroThe fibula is thickened
view of tibia and Iroven I)uchenne
leg the the
anteroposterior
were (F,’T) widest fibula
746
AGE
OF
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d:
d:
Many
10
Affected
Males
/tibia
= creatine
in 3 patients females.
1966
NOVEMBER,
CPK
EKG
EMG
F/T
RATIO
9.6
+
Myopathic
.85
1.68
4
Myopathic
.74
7.7
+
Myopathic
.98
Side
with
Duchenne state
#{174}= carrier
phosphokinase;
EKG
muscular determined
= electrocardiogram;
dystrophy.=affected by abnormal serum
males. Arrow phosphokinase
creatine
= electromyogram;
EMG
F/T
points to levels.
= fibula
ratio
ratio. RESULTS
AND
DISCUSSION
Twenty-five patients were diagnosed as having Duchenne muscular dystrophy on the basis of clinical course, myopathic dcctromyogram, elevated serum creatine phosphokinase and, in selected cases, muscle biopsies. Their ages ranged from 2 to 21 years.
S. Harris
on
Maternal
=
Willard
cpl
‘
20
3. Findings present case.
and
ABNORMAL
HISTORY
9
1”IG.
Harris
FAMILY
PATIENT
CPK
J,
Vivian
The
patients
with
limb
girdle
and
facioscapulohumenal dystrophies are considered separately. The group with Duchenne dystrophy had an F/T ratio (mean ± i standard deviation) of 0.77 ± 0. I 5 compared wi th o. 59 ± 0. I I for the group with other neuromuscular disorders and o.8 ±0.07 for the normal controls (Table II). The widening of the fibula in lateral view involves most of the diaphysis. The tibia may be narrowed concomitantly, probably through atrophy. As a result, the widest diameter of the fibula in a lateral view may equal and occasionally exceed the narrowest diameter of the tibia. In the anteroposterior view the normal relationship of the tibia and fibula is preserved. Figure I , 1 and B, demonstrates the thickened shaft of the fibula in an 8 year old boy with Duchenne muscular dystrophy. He is still able to walk but falls frequently and cannot dorsiflex his
foot. The anteroposterior normal. Figure 2 is a lateral of the leg of a 17 year old sis of the fibula is widened tibia and, in addition, the is narrowed. Figure 3 shows typical muscular
patients
with
roentgenogram
is
roentgenogram boy.
The
diaphy-
in relation to the neck of the fibula the data from 3
proven
Duchenne
dystrophy.
An F/T ratio above 0.70 is definitely abnormal, between o.66 and 0.70 iS borderline, and 0.65 or below is normal. Table III compares the F/T ratios in Duchenne musIII
TABLE FIBULA/TIBIA
(F/i’)
NEUROMUSCULAR
No.
F/T
Abnormal
Ratio
>0.70
RATIO
1N
DISEASE
Duchenne Muscular Dystrophy
of Patients
Other Neuromuscular Disorders 3
I6
Borderline o.66-o.7o
3
3
Normal
