New Clinical Sign in Duchenne
Muscular Dystrophy
Sunil P r a d h a n , M D , D M
A new sign in Duchenne muscular dystrophy is de-
scribed. The sign demonstrates a unique characteristic
of this disorder: selective hypertrophy and wasting in
different muscles of the same region. The patients were
asked to abduct their arms to about 90 ° with elbows
flexed to 90° and hands directed upwards. Those who
could not abduct the arm to 90° were asked to do so to
the maximum that they could. In this posture, all pa-
tients had examination of pectoral girdles from behind.
Some patients with spinal muscular atrophy and other
forms of muscular dystrophies were also examined in
the same manner. In this posture, patients with Du-
chenne muscular dystrophy demonstrated a linear or
oval depression (due to wasting) of the posterior axil-
lary fold with hypertrophied or preserved muscles on
its 2 borders (i.e., infraspinatus inferomedially and
deltoid superolaterally), as if there were a valley be-
tween the 2 mounts. The sign was specific to Duchenne
muscular dystrophy with sensitivity of about 90 %. It
was most remarkable in patients 8-11 years of age.
Pradhan S. N e w clinical sign in D u c h e n n e m u s c u l a r dys-
trophy. Pediatr N e u r o l 1994; 11:298-300.
Introduction
S e l e c t i v e i n v o l v e m e n t o f the m u s c l e s is an important
feature o f m u s c u l a r dystrophies [1-3]. In D u c h e n n e mus-
cular dystrophy ( D M D ) , this selectivity is apparent for
h y p e r t r o p h y as w e l l as w a s t i n g . H y p e r t r o p h y o f in-
fraspinatus and deltoid m u s c l e s has b e e n reported [4,5]. In
m y personal observation, e v e n w h e n these 2 muscles are
not hypertrophied, their b u l k remains relatively p r e s e r v e d
until the w h e e l c h a i r - b o u n d stage o f the disease, as c o m -
pared to other a d j o i n i n g m u s c l e s . T h e s e muscles also tend
to be p r o m i n e n t on m i l d contraction. C o n v e r s e l y , latissi-
mus dorsi m u s c l e , along with the sternal h e a d o f the pec-
toralis m a j o r and s t e m o c l e i d o m a s t o i d m u s c l e s , has b e e n
included a m o n g those f e w that b e c o m e w e a k in the early
stages o f the disease. In this context, I o b s e r v e d early and
consistent wasting o f the posterior axillary f o l d as a w h o l e
(with s o m e w h a t parallel changes in the anterior axillary
From the Department of Neurology; Sanjay Gandhi Postgraduate
Institute of Medical Sciences; Lucknow, India.
298 PEDIATRIC NEUROLOGY Vol. 11 No. 4
fold) irrespective o f muscles or parts of m u s c l e s taking
part in its formation. M a k i n g use o f these observations,
the patients were e x a m i n e d in a particular posture and a
peculiar sign, specific to D M D , was demonstrated.
Methods
Eighty-four patients who have Duchenne muscular dystrophy were
examined for the presence of a particular sign. The criteria for the se-
lection of the DMD patients included typical history and physical find-
ings of DMD, clinical evidence of the gradual progression of the disease.
markedly raised serum creatine phosphokinase (CK) levels, typical find-
ings on concentric needle electromyography (EMG), and characteristic
histologic features on muscle biopsy. The patients belonged to 62 fam-
ilies, of which 60 families were also screened for gene deletion. For this
purpose DNA was extracted from the frozen blood samples as described
earlier [6]. Deletion analysis of dystrophin gene was performed by mul-
tiplex PCR, using 6 primers from the system described by Chamberlain
et al. [7]. The PCR results were extended and substantiated by Southern
hybridization using eDNA probes E8]. DNA samples were analyzed for
gene deletion at 2 major hot spots: 1 at the 5' end and the other located
at the central region of the dystrophin gene. Forty-nine patients from 33
families demonstrated gene deletions. The majority of deletions were
clustered at the central hot spot. The remaining patients with DMD were
included only when they had typical progression of the disease, failure to
run fast in early childhood, calf hypertrophy, positive Gowers' sign, or
attainment of wheelchair-bound stage at about 11-13 years of age. Typ-
ical findings on muscle histopathology and very high serum CK values
also helped in distinguishing these patients from those with other forms
of muscular dystrophies and spinal muscular atrophies (SMA). Eight
patients whose muscle biopsy was inconclusive due to excessive fatty
tissue were included because of deletion of the dystrophin gene. Myo-
pathic changes on EMG also helped to exclude SMA patients.
The Sign. Each patient's back was exposed in a sitting or standing
posture. They were asked to abduct their arms to 90° or in the case of
failure to do so, as much as they could. Their elbows were made to flex
to 90° in such a way so that the hands remained directed upwards. In this
position (Fig 1), the muscles around the shoulders, including the upper
arms, posterior axillae, and scapulae, were inspected for hypertrophy or
wasting. Careful examination revealed a linear groove or sometimes an
oval depression running obliquely from the spinous process of the scap-
ula to the axilla due to wasting of the muscles participating in the for-
marion of the posterior axillary fold. On either side of the depression two
prominences were visible, the inferomedial being due to hypertrophy of
the infraspinatus muscle and the superolateral one, due to hypertrophy of
the deltoid muscle. The whole appearance was like a valley between the
2 mounts (Fig 1).
This sign was tested in 50 normal children 4-12 years of age. In DMD
patients, the sign was tested for its presence or absence. Whenever
present, the sign was graded into overtly positive or subtly positive. Four
patients with limb girdle muscular dystrophy, 2 with myotonic dystro-
Communications should be addressed to:
Dr. Pradhan; Depaament of ~ ; Saajay Gandhi P o s t ~ u a t e
Instituteof Medical Sc~ces; L ~ 226014, India~
Received May 16, 1994, ~ August 15, 1994.
© 1994 by Elsevier Science Inc. • 0887-8994194/$7.00

Figure 1. A patient with Duchenne muscular dystrophy with the posi-
tive sign.
phy, 5 with SMA, and 2 with facioscapulohumeralmusculardystrophy
were also examined for this sign.
The Positive Sign. The sign was taken as positive only when all 3 of
the following componentswere present:
(1) Longitudinal or oval depression due to wasting of the posterior
axillary fold;
(2) The prominenceinferomedialto the depression due to the enlarge-
ment or normally preservedbulk of the infraspinatus muscle; and
(3) The prominencesuperolateralto the depression due to enlargement
or normallypreservedbulk of the deltoid muscle.
Presence of only 1 or 2 of these components, which did not give rise
to the overall appearanceof a "valley between the 2 mounts," was not
taken as a positive sign.
Results
Of the 84 patients with DMD, 42 were sporadic cases.
In 18 families, 2 affected siblings were examined and in 2
families, 3 affected siblings were included. Ages ranged
from 4 to 18 years (median: 9 years). All normal controls
and patients without DMD could bring the upper limbs to
the desired position to elicit this sign. Among DMD pa-
tients, only 72 of 84 could do so, while the remaining 12
patients could abduct the shoulders to only 45-60°; how-
ever, elbow flexion to 90 ° with the hands facing upwards,
was not a problem in any of them.
The sign was overtly positive in 54 patients (64%) and,
in subtle form, in another 21 patients (25%) with DMD. It
was negative in the remaining 9 patients (11%). The nor-
mal controls and the patients without DMD did not dem-
onstrate this sign. Among the 9 DMD patients who did not
demonstrate this sign, 4 had wasting of the infraspinatus
muscle, while 3 of them and 5 others had uniform wasting
of the deltoid muscle. Five of them also had obesity which
significantly contributed to masking this sign.
The posterior axillary fold was wasted in all 84 DMD
patients (with parallel or sometimes more pronounced
wasting of the anterior axillary fold) irrespective of the
sign being positive or negative. Of the 54 patients who
demonstrated overtly positive signs, all had infraspinatus
hypertrophy and 39 had deltoid hypertrophy (Table 1).
Similarly, in the group of patients who demonstrated sub-
fly positive signs, 17 exhibited infraspinatus hypertrophy
and 5 deltoid hypertrophy. The remaining patients with
positive signs had essentially normal or relatively pre-
served bulk of these muscles and the sign was positive due
to the wasting of muscles in between and around them.
The sign was positive in early as well as late stages of
the disease; however, most patients with overtly positive
signs were 8-11 years of age and had moderate proximal
muscle weakness, waddling gait, positive Gowers' sign,
and a tendency to fall during walking. In this age group,
96% (55 of 57 patients) had positive signs; 80% (46 of 57
patients) were overtly positive. Fewer patients 4-7 years of
age who had mild proximal muscle weakness and those
12-18 years of age who were wheelchair-bound had pos-
itive signs. At 4-7 years of age, 72% (13 of 18 patients)
had positive signs with only 17% (3 of 18 patients) having
overtly positive signs. At 12-18 years of age, 77% (7 of 9
patients) had positive signs with only 55% (5 of 9 patients)
having overtly positive signs. Interestingly, 2 wheelchair-
bound patients with positive signs had calf hypertrophy
that resolved to apparently normal bulk.

Table 1. The incidence of the three factors that contribute significantly to the positive sign*

No. of Infraspinatus Wasting of Posterior Deltoid Hypertrophy

Sign Patients Hypertrophy Axillary Fold (Acromial Fibers)

Overtly positive 54 (64%) 54 54 39

Subtly positive 21 (25%) 17 21 5
Absent 9 (11%) 3 9 0
Total 84 (100%) 74 (88%) 84 (100%) 44 (52%)
* The table lists the number of patients with DMD with percentages in parentheses.

Pradhan: New Sign in DMD 299

Discussion
The sign demonstrated in this study highlights the phe-
nomenon of selective muscle involvement which is one of
the diagnostic features of muscular dystrophy [1-3]. In
DMD, however, this selectivity is found for hypertrophy
as well as for wasting. The consistent finding of wasting
and hypertrophy in the same region forms the basis for the
sign described here; wasting is observed in the muscles
forming the posterior axillary fold and hypertrophy (or
relatively preserved bulk) in the infraspinatus and deltoid
muscles.
The posture adopted to elicit this sign has several ad-
vantages:
(1) Infraspinatus muscle is partly buried in the extension
of axillary fat and abduction of the shoulder helps to vi-
sualize it clearly by stretching the subcutaneous fat;
(2) Muscles in the posterior axiUary fold are best visu-
alized in the abducted position of the arms, when wasting
appears as a linear or oval depression;
(3) Muscular hypertrophy is better seen when muscle is
under mild contraction.
Abduction of the arm puts the deltoid muscle under mild
contraction and flexion of the elbow with hands directed
upwards (i.e., external rotation of the upper arm) puts
infraspinatus muscle under mild contraction. Therefore,
enlargement of these muscles is better appreciated in the
position of the arms used to elicit the sign.
To counter observer-related bias in the interpretation of
this sign, 16 D M D patients 9-11 years of age (who had
overfly positive signs), 16 age-matched normal boys, 4
patients with SMA type III, 2 patients with facioscapulo-
humeral muscular dystrophy, and 2 patients in the early
stages of limb girdle myopathy, were examined by 2
young doctors who were undergoing intensive neurology
training following their postgraduation in pediatrics/
internal medicine. The sign was first demonstrated to both
of them and then they were asked to label it positive or
negative in all patients and controls who were covered
from the waist down (to hide the calf hypertrophy). Both
of them separately labeled it positive in all 16 D M D pa-
300 PEDIATRICNEUROLOGY Vol. 11 No. 4
tients and in none of the other patients or controls, signi-
fying the validity of this new and clinically useful obser-
vation.
In view of the negative findings in normal children and
in those with SMA or other muscular dystrophies, this
sign appears to be specific to DMD. It was observed in
about 90% of DMD patients with somewhat better appre-
ciation at 8-11 years of age. If used routinely, this test may
serve as a useful supportive tool in the clinical diagnosis of
DMD.
The author thankfully acknowledges the help of Dr. Balraj Mittal, As-
sociate Professor of Genetics, in whose laboratory the gene deletion
studies were performed. Drs. Ashok Kumar and Madhurendra N. Singh,
senior residents in the Department of Neurology, participated in the
blinded study and their cooperation is gratefully acknowledged. This
work was supported by an intramural research grant of Sanjay Gandhi
Postgraduate Institute of Medical Sciences, Lucknow, India.
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