Abstract
Background: Facioscapulohumeral muscular dystrophy causes winging of
the scapula and weakness and discomfort of the shoulder. Surgical
stabilization of the scapula to the posterior part of the chest wall permits
shoulder abduction and flexion by the deltoid muscle. In the present
retrospective study, we describe our experience with eleven scapulothoracic
fusion procedures that were performed for the treatment of the infantile and
adolescent forms of the disease.
Methods: Eleven procedures were performed in eight patients,
including four male patients (one of whom had bilateral involvement and three
of whom had unilateral involvement) and four female patients (two of whom had
bilateral involvement and two of whom had unilateral involvement). One of the
female patients had the infantile variant, whereas all other patients had the
adolescent form of the disease. The mean age at the time of the eleven
operations was seventeen years. The scapula was fused to the thorax in 25°
of abduction with use of 16-gauge wires, a plate or washers on the
posteromedial scapular surface to prevent wire pull-out, and iliac crest
autograft. After a mean duration of follow-up of 6.3 years, all patients were
assessed clinically and radiographically.
Results: In all cases, scapular winging and shoulder fatigue and
pain were initially eliminated. In the first year after the operation, active
abduction and flexion of the shoulder improved to a mean of 145° (range,
110° to 160°) and 144° (range, 130° to 160°),
respectively, from a preoperative mean of 75° (range, 70° to 90°).
At the time of the final assessment (mean, 6.3 years postoperatively),
abduction and flexion were maintained at a mean of 139° and 134°,
respectively, in seven shoulders; however, in the remaining four shoulders,
both of these motions had decreased to a mean of 48° because of
progressive loss of deltoid muscle strength. In two cases, prominent
subcutaneous wires required trimming. There were no other complications.
Conclusions: Scapulothoracic fusion relieves shoulder fatigue and
pain, allows for smooth functional abduction and flexion of the upper
extremity, and improves the appearance of the neck and shoulder in patients
who have symptomatic scapular winging due to facioscapulohumeral muscular
dystrophy. The procedure is associated with a low risk of complications.
Progression of the disease affecting the deltoid muscle can cause loss of
abduction, but the other benefits of stabilization persist.
Level of Evidence: Therapeutic Level IV. See Instructions
to Authors for a complete description of levels of evidence.
Facioscapulohumeral muscular dystrophy is characterized by weakness
of the shoulder and proximal arm muscles, winging of the scapula, and
diminished shoulder abduction and flexion. Other features of the disease
include facial and lower extremity muscle weakness and asymmetric muscle
involvement. The disease initially was described in detail by Landouzy and
Dejerine1,2
and is an autosomal dominant disorder with a frequency of 1 in 20,000 and a
10% to 30% rate of new
mutation3,4.
The disorder initially affects the muscles of the face, shoulder, and arm, but
it may progress to involve the muscles of the pelvic girdle and lower
limbs5. Penetrance
is approximately 95% by the age of twenty
years6. In the more
severe infantile variant, which presents in the first years of life, the
clinical picture includes facial diplegia (bilateral facial weakness),
scapular winging, weakness of shoulder abduction, lumbar lordosis associated
with hip flexion contracture, footdrop, sensorineural hearing defects, and,
occasionally, retinal
vasculopathy7.
Facioscapulohumeral muscular dystrophy has been linked to deletions of a
tandem repeat in the terminal region of chromosome 4 at 4q35, but nonlinkage
in a small number of families illustrates its genetic
heterogeneity8-11.
The defect site comprises a 3.3-kb tandem repeat sequence with a variability
in fragment size12.
The 3.3-kb repeat is called D4Z4 and contains two
repetitive DNA sequences but does not appear to encode a protein
product9,10,13.
Most patients with facioscapulohumeral muscular dystrophy have one to ten
copies of the D4Z4 repeat, compared with eleven to
>100 copies in normal individuals.
Selective weakness of the muscles of the shoulder (including the serratus
anterior, trapezius, and rhomboid major and minor) leads to instability of the
scapula during shoulder motion. While the deltoid muscle is relatively spared,
it is at a mechanical disadvantage when activated, leading to less-than-normal
function because the scapula is not held firmly against the thorax as a result
of the weakness of the scapular
stabilizers14,15.
Without muscular stabilization, the scapula is abnormally mobile and rotates
away from the posterior part of the chest wall to produce winging and cephalad
displacement. Traction on the weakened, ineffective muscles that insert into
the medial border of the scapula leads to muscle fatigue and discomfort with
repetitive activity. Shoulder abduction and flexion often are limited to
<90°. Affected individuals complain of a shoulder ache, an inability to
perform overhead activities such as combing the hair, and unsightly winging of
the scapula. Surgical stabilization of the scapula against the posterior part
of the chest wall allows the deltoid muscle to function and can alleviate
discomfort, restore functional abduction and flexion of the upper limb, and
improve the appearance of the shoulder.
We describe our experience with eleven scapulothoracic fusion procedures
that were performed for the treatment of the adolescent and infantile forms of
facioscapulohumeral muscular dystrophy.
Patient Population
We performed eleven scapulothoracic fusion procedures in eight
patients, including four female patients (two of whom had bilateral
involvement and two of whom had unilateral involvement) and four male patients
(one of whom had bilateral involvement and three of whom had unilateral
involvement). One female patient had the infantile variant of the disease.
Deltoid strength at time of surgery was 4 or 5 (of 5) in all cases.
Improvement in shoulder motion was demonstrated during the preoperative
physical examination by manual stabilization of the scapula against the chest
wall.
Surgical Technique (Figs.
1-A, 1-B,
1-C, 1-D)
Following the induction of general anesthesia, the patient is placed prone
on a regular operating room table. The forequarter is draped free with the
upper limb abducted so that the scapula lies flat against the posterior part
of the thorax with its vertebral border externally rotated at an angle of
25° to the midline. The anatomy of the scapula, its attached muscles, and
the scapulothoracic articulation were clearly presented by
Grant16 and
Williams et
al.17.
A linear incision is made over the entire vertebral border of the scapula
in the reduced position. The trapezius muscle is cut in line with the
cutaneous incision. The levator scapulae and rhomboid major and minor muscles
are released from their sites of insertion on the vertebral border of the
scapula and are dissected medially. They are generally atrophic and markedly
fibrotic and fatty. The supraspinatus, infraspinatus, and teres major muscles
are reflected 2 to 3 cm laterally from their sites of origin on the vertebral
border of the scapula. The posterior surface of the vertebral border of the
scapula is then exposed subperiosteally
(Fig. 1-A). A 4 to 5-cm segment
of the origin of the subscapularis muscle is reflected laterally from the
anteromedial part of the scapula, also in the subperiosteal plane, and is
partially excised, if necessary, to expose the deep surface of the vertebral
border of the scapula and to permit its apposition against the adjacent ribs.
In the process of clearing the vertebral border of the scapula
subperiosteally, the insertion of the serratus anterior is freed anteriorly
from the whole length of the medial border of the scapula. After this
extensive clearing, the scapula can be placed without tension in a more medial
and inferior position against the posterior part of the chest wall. It is
important not to attempt to gain even further medial-inferior correction by
forceful efforts because doing so might stretch adjacent neurovascular
structures and cause a brachial plexus palsy. Five ribs at the fusion site,
typically the second to the sixth or the third to the seventh ribs, are
exposed subperiosteally from the neck to the posterior angle, with great care
being taken to protect the parietal pleura and subcostal neurovascular
bundles. Autogenous cancellous bone graft is harvested from the posterior
iliac crest. The anterior surface of the scapula and the posterior surface of
the ribs are partially decorticated to bleeding bone with use of a motorized
burr. The scapula is placed against the posterior part of the chest wall, and
points of wire passage from the vertebral border of the scapula to the
immediately adjacent ribs are marked. The wires are positioned with one
cephalad to (above) the scapular spine, one at the level of the spine, and
three caudad to (below) it, with the lowest at the most distal part of the
vertebral border (Fig. 1-B). A
doubled 16-gauge wire is bent to a C shape and is passed under the rib
subperiosteally from superior to inferior, and the two ends are twisted once
against the posterior surface of the rib to prevent impingement against the
pleura. Drill-holes are made along the vertebral border of the scapula, 1.5 to
2 cm from its margin, opposite the selected ribs in the supraspinatus and
infraspinatus fossae, and through the base of the scapular spine
(Fig. 1-B). Washers or
preferably a dynamic compression plate or a flattened semitubular AO plate
(Synthes, West Chester, Pennsylvania) are applied to the posteromedial surface
of the scapula to reinforce the thin scapular bone
(Fig. 1-C). Occasionally, two
plates are used, one cephalad and one caudad to the scapular spine, if a
single contoured plate is too bulky. One end of each wire is then passed from
anterior to posterior through the adjacent hole in the vertebral border of the
scapula and through the hole in the overlying plate or washers. The cancellous
bone graft is sandwiched between scapular and costal surfaces, with adjacent
ribs being bridged by cancellous strips
(Fig. 1-C). With the scapula
held in its final position, the other end of each wire is pulled over the
posterior part of the plate and the wires are tightened sequentially by
twisting in a clockwise direction. Any remaining bone graft is placed between
the posterior surfaces of the ribs medially and the vertebral border of the
scapula (Fig. 1-D). The
operative field is filled with crystalloid solution, and a Valsalva maneuver
is performed to detect relatively large pleural tears. The wires are cut and
twisted to lie flat. The posterior muscles are closed over the posterior
surface of the scapula to provide a tenodesis effect and to cover the
implants. The thoracic and posterior iliac wounds are closed routinely. A
chest radiograph is made in the recovery room to assess for pneumothorax. This
radiograph can be used to detect a developing pneumothorax at a time when
clinical symptoms can be masked by postoperative drowsiness or pain
medications.
Postoperative Management
The postoperative course consists of three phases: (1) immobilization of
the shoulder and upper limb in a sling and swathe for four weeks, (2)
immobilization in a sling alone with daily active range of motion of the
elbow, forearm, wrist, and hand but no humeral abduction or flexion for four
weeks, and (3) stepwise progression of shoulder abduction and flexion to full
active range of motion with weaning from the sling over the next four to eight
weeks. There is unrestricted activity at three to four months after surgery
once the rehabilitation program has led to pain-free clinical abduction and
flexion. Radiographs are useful for assessing scapular and implant position
but are not helpful for assessing fusion. Cast immobilization is not used.
Assessment of Results
Assessments included age at the time of surgery (per procedure), duration
of follow-up postoperatively, side (or sides) of involvement, time-interval
between procedures (if the patient had a bilateral procedure), number of
subcostal wires, use of scapular protective implants (metal plate or washers),
shoulder abduction and flexion (preoperatively, six to twelve months
postoperatively, after full healing and rehabilitation, and at the time of the
most recent examination), levels of rib fusions, complications, and
radiographic appearance before and after surgery. Final analysis of the
procedures was based on clinical assessment at the time of the most recent
visit (see Appendix) and on radiographic assessment. A grading system was
established on the basis of the three clinical indications for the procedure:
range of motion (shoulder abduction and flexion), appearance (scapular winging
and neck/shoulder contour), and amount of fatigue and pain
(Table I). The three criteria
were equally weighted because the primary reason for surgery varied according
to each patient. The maximum score per procedure was 6. The result was graded
as excellent (6 points), good (4 or 5 points), fair (3 points), or poor (0, 1,
or 2 points).
The mean age at the time of the eleven procedures was seventeen
years (range, eleven years to twenty-one years and ten months). The mean
duration of follow-up after the eleven procedures was six years and three
months (range, two to ten years). In the three patients managed with bilateral
fusion, the second procedure was done four, five, and ten months after the
first. Eight stabilization procedures spanned the third to seventh ribs, two
spanned the third to sixth ribs, and one spanned the second to sixth ribs. Of
the eleven stabilization procedures performed to hold the medial part of the
scapula to the underlying ribs, four involved the use of four subcostal wires
and seven involved the use of five subcostal wires. In the two initial
procedures, the scapulocostal wires were used alone without a plate or
washers. Although no problems occurred, in subsequent cases we sought to
minimize the danger of the wires breaking through the thin scapular bone
during tightening or during the healing phase by placing metal washers on the
posteromedial part of the scapular surface (two procedures) or by using a
plate (seven procedures). One contoured plate was used in four procedures, and
two plates (one cephalad to the spinous process and one caudad to the spinous
process) were used in three. Iliac crest autograft alone was used in ten
cases, and allograft bone alone was used in one. One of the eleven
scapulothoracic fusion procedures was performed after the failure of a
Mersilene tape stabilization.
Preoperatively, all patients complained of unsightly winging and cephalad
displacement of the scapula (Figs.
2-A and
2-B), inability to perform
overhead activities such as combing the hair or reaching for items in a
cupboard, and shoulder discomfort and fatigue with activity. Preoperative
active shoulder abduction and forward flexion both averaged 75° (range,
70° to 90°).
Postoperatively, after healing and rehabilitation, all patients had relief
of pain and were satisfied with the cosmetic result (Figs.
2-A and
2-C). There were no cases of
brachial plexus palsy, rib fracture, pneumothorax, pleural effusion, wound
complication, or donor site morbidity. In two patients, prominent subcutaneous
wires on one side required later surgical trimming. In both instances, we
found an osseous union with smooth mature cortical bone at the scapulocostal
interface at the time of the operation. During the follow-up period (range,
two to ten years), there were no instances of wire failure, wire erosion of a
rib, nonunion, breakdown of bone fusion, or recurrence of winging.
In the first year after the operation, following healing and
rehabilitation, active abduction and forward flexion improved to an average of
145° (range, 110° to 160°) and 144° (range, 130° to
160°), respectively (see Appendix). With longer-term follow-up, seven
shoulders maintained the range of motion whereas four lost range of motion
with time. In the seven shoulders that retained motion, abduction and flexion
averaged 139° (range, 110° to 150°) and 134° (range, 100°
to 150°), respectively, whereas in the four that lost motion, abduction
and flexion averaged 48° (range, 20° to 70°). In all four
shoulders in the latter group, motion was lost because of progressive weakness
of the deltoid muscle with no evidence of failure of the scapulothoracic
fusion. The weakness was gradual and was noted four years postoperatively or
more. These patients also had had worsening of lower extremity weakness,
implying greater disease progression.
Five patients underwent a unilateral fusion procedure. On the contralateral
side, one patient had already undergone Mersilene tape stabilization and was
satisfied with the result, one had progressive systemic weakness (including
weakness of the deltoid muscles) that precluded effective function, and three
were planning to undergo fusion when financial and social conditions
permitted.
The final grading system indicated six excellent, three good, and two fair
results (Table II). Both of the
fair results were in the same patient, whose postoperative ranges of motion
had decreased bilaterally from 130° to 70° and who had a recurrence of
fatigability with marked deltoid muscle deterioration. Radiographic
assessments, including a lateral radiograph of the scapula, showed
postoperative improvement and maintenance of scapular correction in all cases.
In one shoulder with late recurrent weakness, there was inferior humeral head
subluxation. No wire breakage or erosion of wires through the ribs was
noted.
Indications for scapulothoracic fusion in patients with adolescent
and infantile facioscapulohumeral muscular dystrophy were limited shoulder
abduction and flexion of <90°, scapular winging, and shoulder
discomfort. In all patients, scapular stabilization initially restored
functional abduction and flexion well beyond the horizontal position,
eliminated winging and cephalad displacement of the scapula, and minimized
discomfort and fatigue. Abduction proceeded in a smooth arc rather than being
initiated and aided by irregular compensatory movements. The ability to
sustain abduction and flexion was reported by the patients to be a substantial
benefit. Fusion was obtained and persisted in all cases, but abduction and
flexion slowly decreased with time in some, exclusively because of a
progressive decrease in deltoid strength.
Several previous methods of scapulothoracic stabilization for the treatment
of facioscapulohumeral muscular dystrophy and other causes of winging have not
produced long-standing good
results14,18-27.
In the past, scapular winging due to poliomyelitis often was treated with
dynamic scapular stabilization through muscle transfers, including those
involving the trapezius, teres major, rhomboids, latissimus dorsi, and
pectoralis major, but these procedures cannot be used for the treatment of
facioscapulohumeral muscular dystrophy because many of these muscle groups are
already affected or are likely to become affected with
time21,22.
Use of fascia or artificial materials to restrict but not to eliminate
scapular motion have almost always been associated with progressive loss of
stability due to stretching or
breaking21,24,25,
including in patients with facioscapulohumeral muscular
dystrophy22.
Relatively limited increases in active shoulder abduction also have
characterized scapulocostal stabilization in patients with facioscapulohumeral
muscular
dystrophy22. In one
report22 in which
the results for five shoulders were considered "uniformly good,"
the mean preoperative active abduction of 56° (range, 45° to 70°)
increased to only 88° (range, 70° to 110°). Efforts to stabilize
the scapula in patients with facioscapulohumeral muscular dystrophy have
concentrated increasingly on scapulothoracic (scapulocostal) fusion. Fusion of
the scapula to the thorax (ribs) by means of tibial cortical and cancellous
bone graft and
screws24, metal
plates, screws and cancellous bone
graft25, or screw
fixation and cancellous
graft14 requires
postoperative immobilization in a shoulder spica cast for three months and may
be complicated by rib fracture due to stress concentration, with subsequent
loss of fixation, pneumothorax, or pleural irritation by the screw tips.
Fusion of the caudad half of the scapula to the thorax with multiple wires
requires extensive and difficult lateral dissection and appears to fuse an
unnecessarily extensive rib
mass26. These
fusion
techniques14,24-26
are infrequently used today but, nevertheless, clearly defined the functional
value of scapulothoracic fusion compared with fascial stabilization.
The initial results of fusion appear to be better than those other forms of
stabilization, and these results appear to be maintained over a long period of
time. Copeland et
al.14 reported on
ten patients who had an average flexion of 123° and an average abduction
of 103° after mean duration of follow-up of sixteen years. Letournel et
al.25 reported on
sixteen shoulders that were followed for a mean of sixty-nine months; the
preoperative ranges of abduction and flexion were 77° and 75°, and the
postoperative ranges were 102° and 108°. Bunch and
Siegel26 reported
on twelve shoulders that had a mean improvement in abduction from 65° to
125°. The procedure that we have described resembles those described by
Jakab and
Gledhill27 and
Twyman et al.18 in
that it involves rigid stabilization, autograft incorporation, and minimal
postoperative immobilization. Jakab and
Gledhill27 reviewed
four shoulders after an average duration of follow-up of 2.9 years; the mean
abduction was 85° before surgery and 114° after surgery. In the series
of twelve shoulders reported by Twyman et
al.18, the mean
abduction improved from 63° to 91° and the mean flexion improved from
56° to 96° after an average duration of follow-up of four years.
While scapulothoracic fusion allows the deltoid muscle to elevate the
humerus to positions of abduction and flexion above the horizontal plane, it
cannot lead to a full range of motion because the full arc of humerothoracic
motion requires both scapulothoracic and glenohumeral motion in a ratio of
1° to 2° or 2° to
3°15,28,29.
Previously reported scapulothoracic stabilization procedures that were
performed to treat facioscapulohumeral muscular dystrophy tended to result in
abduction of only 90° to 110°. Our results demonstrated greater
abduction, ranging from 120° to 150°. Some of this difference may be
due to greater external rotation of the scapula as that position favors more
glenohumeral abduction. Excessive external rotation must be avoided, however,
as it can prevent positioning of the upper extremity against the side of the
body in the relaxed state. Achieving more rigid stabilization is also a likely
contributor to improved abduction. Furthermore, the awkward, forced, and
compensatory movements to which the glenohumeral joint is repeatedly exposed
during the several years prior to fusion in patients with facioscapulohumeral
muscular dystrophy lead to a relative glenohumeral joint hypermobility that
persists after fusion.
Facioscapulohumeral muscular dystrophy may be progressive and may be
characterized by additional weakening of affected muscles of the upper and
lower limbs5. The
improvement in active range of motion of the shoulder after scapulothoracic
fusion relies primarily on the maintenance of deltoid muscle function. The
operation should be performed only if the deltoid strength at the time of
surgery is 4 (of 5) or better. While the fusion persists with time, thereby
minimizing fatigue and discomfort and maintaining cosmesis, progressive
deltoid weakening will lead to a diminution of effective abduction and
flexion. If deltoid strength is diminished at the time of the operation, the
patient must be warned of the likelihood of limited motor effectiveness and
the greater possibility of diminished function with time. We counsel all
patients with facioscapulohumeral muscular dystrophy that while improvement in
appearance and diminution of pain and fatigue can be maintained over the long
term, the gains in motion may be lost over time. This is particularly true for
patients with infantile facioscapulohumeral muscular dystrophy, most of whom
lose the ability to walk and experience progressive upper extremity worsening
in the second decade of life. In our patient with infantile
facioscapulohumeral muscular dystrophy (Case 4), the initial gain in motion on
one side persisted for seven years postoperatively but was lost on the other
side.
Familiarity with the anatomy of the scapula is important when performing
the procedure. Wires are placed through the medial border of the scapula, but
this region is thin, reportedly measuring only 4 ± 1 mm at a distance 1
cm from the edge in a study of thirty adult
scapulae30. For
this reason, it is best to twist the wires against a metal plate or metal
washers to minimize pullout. Optimal radiographic views before and after the
operation include an anteroposterior chest radiograph; anteroposterior
radiographs of both shoulders, showing the glenohumeral joint and entire
scapula; and oblique radiographs showing the true lateral profile of the
scapula and its relationship to the posterior chest
wall31.
Scapulothoracic fusion theoretically may adversely impact respiratory
function by limiting chest wall expansion. Patients with facioscapulohumeral
muscular dystrophy (with the exception of those who have the infantile
variant) have a normal life expectancy, and pulmonary function tends to be
maintained even when there is extensive upper and lower extremity involvement.
Difficulty in the documentation of pulmonary function in patients with
facioscapulohumeral muscular dystrophy has led to limited quantitative
information, but all of the reports that have addressed the matter in some way
have indicated that there are no short or long-term symptoms of respiratory
compromise14,18,24-27.
Twyman et al.18
reported that forced vital capacity decreased by an average of 21% (range,
3.2% to 30%) in each of five patients who had bilateral scapulothoracic
fusion. In contrast, other investigators have reported that scapulothoracic
fusion (even bilateral scapulothoracic fusion) was associated with minimal or
no reduction in vital capacity, respiratory volume, or forced expiratory
volume24-27.
Scapulothoracic stabilization may not be recommended by some physicians for
the treatment of facioscapulohumeral muscular dystrophy because of concerns
about operative risks, prolonged postoperative immobilization, and imperfect
stabilization. Our experience demonstrates that scapulothoracic fusion is an
effective, reproducible, and safe procedure for the treatment of adolescent
facioscapulohumeral muscular dystrophy and may be used with more limited
expectations for the treatment of the infantile form of the disease.
A table presenting clinical details on all patients is available with the
electronic versions of this article, on our web site at
(go to
the article citation and click on "Supplementary Material") and on
our quarterly CD-ROM (call our subscription department, at 781-449-9780, to
order the CD-ROM). ?
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