Extract
Despite recent research developments, Duchenne muscular dystrophy remains a
fatal neuromuscular disease, affecting two to three boys in 10,000. It is an
inherited X-linked recessive condition caused by a frame-shift mutation in the
dystrophin gene at the Xp21.2 locus of the X
chromosome1.
Dystrophin is a large cell-membrane protein involved in calcium transport in
the muscle cell. Boys with Duchenne muscular dystrophy have an absolute
absence of dystrophin, leading to deterioration of the muscle cells and
replacement with fibrofatty
tissue2. This is in
contrast to Becker muscular dystrophy, in which less disruptive mutations that
do not result in a frame shift lead to production of variable amounts of a
smaller, genetically abnormal dystrophin
protein3,4.
Despite recent research developments, Duchenne muscular dystrophy remains a
fatal neuromuscular disease, affecting two to three boys in 10,000. It is an
inherited X-linked recessive condition caused by a frame-shift mutation in the
dystrophin gene at the Xp21.2 locus of the X
chromosome1.
Dystrophin is a large cell-membrane protein involved in calcium transport in
the muscle cell. Boys with Duchenne muscular dystrophy have an absolute
absence of dystrophin, leading to deterioration of the muscle cells and
replacement with fibrofatty
tissue2. This is in
contrast to Becker muscular dystrophy, in which less disruptive mutations that
do not result in a frame shift lead to production of variable amounts of a
smaller, genetically abnormal dystrophin
protein3,4.
Duchenne muscular dystrophy is highly suspected in boys who have a markedly
elevated serum creatine phosphokinase level; in two-thirds of such patients,
the diagnosis can be confirmed by genetic testing. Approximately two-thirds of
affected patients have large deletions or duplications that can be detected
with use of the multiplex polymerase chain reaction and Southern blot
techniques5.
Detection of point mutations in the remaining one-third of patients is more
difficult. In patients without detectable mutations, muscle biopsy with
dystrophin analysis is necessary for
diagnosis6,7.
Staining of muscle biopsy specimens with antidystrophin antibodies in patients
with Duchenne muscular dystrophy reveals a complete lack of staining of
sarcolemma, whereas specimens from patients with Becker muscular dystrophy do
have enough dystrophin present so that partial staining of the sarcolemma is
seen2.
The clinical course of weakness in patients with Duchenne muscular
dystrophy is one of relentless progression. Death from pulmonary or cardiac
compromise occurs in the second or third decade of
life8.
The age of onset of scoliosis in boys with Duchenne muscular dystrophy is
generally closely linked to the age at which they lose the ability to walk,
which generally occurs between the ages of ten and fourteen years. Screening
for scoliosis before the child becomes wheelchair-dependent is usually
unnecessary. Once the child is unable to walk, anteroposterior sitting
radiographs of the spine should be obtained every six months. Many boys with
Duchenne muscular dystrophy are quite obese, so clinical screening may not be
accurate.
Once the presence of scoliosis is confirmed radiographically, the risk for
curve progression is very high. In a group of thirty-three untreated boys for
whom radiographs were made serially until within eighteen months of death, the
rate of progression averaged 2.1° per
month9. Oda et al.
found that only 15% of forty-six patients with documented scoliosis had had no
progression at the four-year
follow-up10.
The scoliotic deformity in boys with Duchenne muscular dystrophy differs in
appearance from that seen in patients with idiopathic
scoliosis11. The
scoliosis begins as a gentle, sweeping curve, the apex of which is at the
thoracolumbar junction. Over time, the curve progresses and involves the
entire thoracic and lumbar spine and results in pelvic obliquity. Whereas
idiopathic scoliosis in individuals without Duchenne muscular dystrophy
typically is associated with lordosis in the sagittal plane, most boys with
Duchenne muscular dystrophy have thoracolumbar and lumbar
kyphosis11.
Lordotic curves are seen less often and have been linked with a decreased risk
of progression by some, but not all,
studies9,10.
In their series of forty-six patients, Oda et al. found that the seven
patients who did not have progressive spinal deformity had normal sagittal
plane alignment (i.e., they had neither kyphosis nor hyperlordosis), had a
scoliosis of <30°, and had minimal pelvic
obliquity10.
The results of published studies on the use of spinal orthoses in boys with
scoliosis due to Duchenne muscular dystrophy have universally been
unfavorable12-14.
Progression is nearly inevitable, and bracing does not prevent progression. In
a study of thirty-two boys managed with spinal orthoses, progression occurred
in 94% despite
bracing12. Rates of
curve progression in braced patients with Duchenne muscular dystrophy range
from 1° per
month13 to 8°
per year 14. Also,
because pulmonary function slowly deteriorates with age and with progression
of the curve, if the brace succeeds in delaying progression of the deformity
but does not prevent it, surgery becomes necessary at an older age when the
cardiopulmonary health of the patient has declined and anesthetic risks have
increased. For this reason, bracing is usually contraindicated in favor of
early surgery in patients with Duchenne muscular
dystrophy13,15.
Modification of the wheelchair to accommodate a scoliotic curve is also not
effective13.
Providing supportive seating for patients with scoliosis similarly delays the
surgical stabilization of the curve until a time when medical risks may
interfere with the safety of the procedure.
As previously mentioned, pulmonary function declines during the second
decade in boys with Duchenne muscular dystrophy, ultimately leading to death
as a result of pulmonary
failure8. Beginning
when the patient loses the ability to walk, pulmonary function, measured as
forced vital capacity, decreases annually at a rate of 4% per
year16. Spinal
deformity further diminishes pulmonary function, with each 10° of
scoliosis resulting in an additional 4% diminution in forced vital
capacity16.
Therefore, as the spinal deformity worsens and the age of the patient
increases, the pulmonary status steadily declines, leading to operative
concerns regarding anesthesia and the possible need for permanent mechanical
ventilation postoperatively. Similarly, cardiac compromise increases as the
patient gets older, with left ventricular dysfunction and arrhythmias
documented with advancing
age17.
When planning surgical instrumentation and fusion of scoliosis in patients
with Duchenne muscular dystrophy, a thorough preoperative evaluation is
advised. Even though these children may appear obese, malnutrition is a
serious concern. Wound-healing problems and increased infection rates in this
group of patients have been
reported18,19.
Maximization of preoperative nutritional status is important to decrease the
likelihood of these serious complications.
Pulmonary function testing should be performed to assess the severity of
preoperative respiratory compromise. Increased anesthetic risks and the
possibility of prolonged or permanent ventilator dependence have been
correlated with preoperative pulmonary compromise. A forced vital capacity of
<35% has been shown to increase
complications20,
although more recent studies have described successful spinal surgery in
patients with Duchenne muscular dystrophy who had preoperative forced vital
capacity of <30% of predicted normal values, particularly with the addition
of noninvasive ventilation in the postoperative
period21.
A preoperative sleep study can be helpful in establishing the possible need
for postoperative bi-level positive airway pressure support following surgery.
Preoperative mask-fitting and the introduction of noninvasive ventilation at
night can assist postoperative respiratory recovery in these
patients22,23.
Cardiac evaluation by a pediatric cardiologist should be obtained
preoperatively. Reduced cardiac function can substantially alter the
anesthetic management of the patient during fusion
surgery24. Sinus
tachycardia is nearly always present, and echocardiograms have shown mitral
valve prolapse and abnormal cardiac contractility in some
patients24.
Duchenne muscular dystrophy, along with other dystrophic myopathies, may be
associated with an increased risk of malignant
hyperthermia25-28.
Pediatric anesthesiologists are aware of this association and manage these
patients by using trigger-free
agents24.
Intraoperative death due to cardiac arrest has
occurred24,26.
While most pediatric spinal surgery is performed under hypotensive anesthesia,
reduced cardiac function in this patient population may prohibit the use of
hypotensive techniques to minimize blood loss. Recently, a study was published
using controlled hypotension in a small group of nineteen patients with
scoliosis due to Duchenne muscular
dystrophy29.
Increased intraoperative blood loss is commonly seen in patients with
Duchenne muscular dystrophy who undergo spinal fusion
surgery30. The
paraspinal muscles are dystrophic and therefore are difficult to strip
subperiosteally due to their fibrous consistency. In addition, the blood
vessels, which are muscular by definition, are more friable than normal,
leading to increased bleeding. Dystrophin is normally expressed in vascular
smooth muscle, so the absence of dystrophin in patients with Duchenne muscular
dystrophy may directly contribute to increased blood loss due to lack of
vasoconstriction31.
It should also be remembered that platelet function has been shown to be
abnormal in boys with Duchenne muscular
dystrophy32. The
fragile cardiac status of these patients usually is a contraindication to the
use of hypotensive anesthesia and necessitates aggressive fluid management;
thus, intraoperative transfusion should be expected and blood products should
be readily available.
The goal of spinal fusion surgery in patients with Duchenne muscular
dystrophy is to obtain and maintain sitting balance and correction of pelvic
obliquity to preserve the ability of the patient to be mobile in a wheelchair
for the remainder of his life. The goal of surgery should also be to eliminate
the effect of progressive spinal deformity on restrictive lung disease. Most
authors agree that pulmonary function does not improve following surgical
fusion of the scoliosis in these patients and that respiratory status
continues to decline throughout adolescence, but it is hoped that the
contribution of progressive spinal deformity on worsening pulmonary function
will be eliminated by stabilization of the
curve20,33,34.
Kennedy et al. found that forced vital capacity declined by an average of 3%
to 5% per year over a seven-year period both in patients with Duchenne
muscular dystrophy who had posterior spinal fusions and in patients who
declined surgery for similar spinal
deformities33.
The indication for surgical stabilization of scoliosis in boys with
Duchenne muscular dystrophy is different from that in patients with adolescent
idiopathic scoliosis. Smith et al. reported that surgical fusion shou ld be
performed at the time of loss of ambulation, based on the fact that the vast
majority of boys will develop a progressive curve following the cessation of
walking9. Since
pulmonary function is inversely related to the age of the patient, surgery
that is performed earlier is safer. Most authors, however, prefer to perform
surgery when a scoliotic deformity is documented radiographically, and they
recommend surgery when the curve measures 20° to
30°8,19,35.
A delay in surgery in younger patients allows the curve to progress further,
which only compromises the intraoperative status of the patient as the
pulmonary function and the cardiac function worsen.
Segmental spinal instrumentation is recommended in patients with Duchenne
muscular dystrophy because the curves are neuromuscular in etiology rather
than idiopathic and the bone is relatively osteopenic due to the nonambulatory
status of the patient. The most commonly used fixation technique is sublaminar
wire fixation, which provides segmental fixation, thereby distributing the
forces of correction along the entire area to be fused. Hybrid constructs that
make use of a combination of sublaminar wires, hooks, and pedicle screws have
been used recently.
Long fusions are recommended, with the proximal extent of the fusion to T2.
If instrumentation and fusion are not carried into the proximal thoracic
spine, proximal or junctional kyphosis may be encountered and the patient may
lose control of the
head8.
More controversy exists regarding the distal extent of fusion. Fixation to
the pelvis or sacrum has been the focus of recent
reports35-39.
Mubarak et al. found that, in small curves with minimal preoperative pelvic
obliquity (15° or less), instrumentation and fusion to L5 was adequate at
the time of a thirty-four-month
follow-up35.
Likewise, Sengupta et al. reported their results after using newer constructs
with lumbar pedicle
screws36. They
studied two groups of patients. The first group consisted of thirty-one
patients with an average age of fourteen years. This group underwent a spinal
fusion that extended to the pelvis. The average preoperative Cobb angle was
48°, and the average preoperative pelvic obliquity was 20°. The second
group consisted of nineteen patients with an average age at surgery of 11.7
years. The patients in this group were treated with thoracic sublaminar wires
and lumbar pedicle screws. The average preoperative Cobb angle was 19.8°,
and the average preoperative pelvic obliquity was 9°. The authors
documented improved correction and maintenance of correction in the group that
underwent fusion with pedicle screw fixation to L5. They acknowledged that the
preoperative deformity was greater in the patients who had fusion to the
pelvis, and concluded that lumbar pedicle screw fixation that stops short of
the pelvis is adequate in patients who have minimal deformity and pelvic
obliquity.
Other studies have recommended extending instrumentation and fusion to the
pelvis, stating that the risk of progressive pelvic obliquity and the
potential need for subsequent surgery when the health of the patient has
deteriorated merit the additional surgical time and complexity at the time of
the initial
surgery37-39.
Alman and Kim studied forty-eight patients with Duchenne muscular dystrophy
following spinal
fusion37.
Preoperative indications for fusion to L5 in this study were a Cobb angle of
<40° and a pelvic obliquity of <10°. Of thirty-eight children
whose fusions did not include the pelvis, thirty-two had an increase in pelvic
obliquity at the time of the two-year follow-up visit. The average increase in
pelvic obliquity was 8°. Alman and Kim found that curves with an apex
distal to L1 were at greatest risk for an increasing pelvic obliquity
following fusion to
L537. Gaine et al.
studied eighty-five patients who had spinal fusions to L4, L5, the sacrum, or
the pelvis for scoliosis associated with Duchenne muscular dystrophy and found
statistically better maintenance of correction of pelvic obliquity in the
eleven patients whose fusion extended to the pelvis than in those whose fusion
ended more
proximally39. Brook
et al. found better maintenance of correction of pelvic obliquity in patients
in whom the fusion extended to the pelvis than in patients in whom the distal
extent of fusion was the lumbar
spine40. Of ten
patients in whom the fusion did not extend to the pelvis, six experienced
progression of the pelvic obliquity postoperatively, three of whom had
>20° of progression in pelvic obliquity. Four of the patients had
difficulty with sitting. Ramirez et al. advocated fusion to the pelvis,
stating that the added surgical time and morbidity were not sufficient to
deter sacral/pelvic fixation in their group of thirty boys who were treated
surgically for
scoliosis18.
Techniques for pelvic or sacral fixation vary among
studies40-42.
The most commonly described method for fusion to the pelvis is Luque rod
instrumentation with use of the Galveston technique
(Figs. 1-A through 1-D).
Placement of the pelvic portion of the rods between the tables of the ilia
above the sciatic notch allows for correction of pelvic obliquity. Even though
this method is commonly used, there is still a need to monitor the patient
postoperatively for potential problems with rod loosening or distal migration
of the rods.
Unit rods have also been used in the treatment of Duchenne muscular
dystrophy34.
Biomechanically, these rods allow for improved correction of pelvic obliquity.
Also, because the rods are precontoured, time is saved intraoperatively. Many
surgeons find simultaneous placement of the rods into the iliac wings
technically challenging, however, and prefer to use individual Luque rods with
proximal and distal
crosslinks40.
A technique commonly used in the neuromuscular population is the
Dunn-McCarthy technique, in which pre-contoured s-shaped rods are looped over
the sacral alae (Fig.
2)41.
By distracting against the ala, correction of pelvic obliquity can be
obtained. Sacral fixation is therefore more dependable for patients with
osteopenia, since the rods are placed over rather than within the iliac
crests. Placement of the rods is decidedly easier when dealing with kyphotic
deformities of the lumbar spine, as is commonly seen in patients with Duchenne
muscular dystrophy.
Sacral screws42
have recently been used in combination with pelvic fixation in a small series
of twenty-five boys with Duchenne muscular dystrophy. The reported results
have been favorable when this technique was used for pelvic and sacral
fixation, with excellent correction of pelvic obliquity, no failure of spinal
instrumentation at the time of follow-up, and minimal loss of correction
postoperatively42.
Alternatively, techniques of pelvic fixation that make use of screws have been
used in some patients (Figs. 3-A, 3-B, and
3-C).
Postoperative care following surgery in patients with Duchenne muscular
dystrophy requires aggressive pulmonary management. At our institution,
patients are taken off mechanical ventilation as soon as respiratory status
permits. Because the preoperative status of these patients has included
longstanding severe restrictive lung disease, it is logical that
"normal" postoperative lung function will not be achieved before
extubation; therefore, extubation should be attempted when there is
"adequate" function sufficient to allow the removal of mechanical
ventilation. We find post-extubation bilateral positive airway pressure can be
helpful in such instances. The immediate involvement of respiratory therapists
will help to prevent atelectasis and pneumonia. Patients should be moved
frequently, and getting the patient out of bed and into the wheelchair as soon
as possible offers great respiratory benefit. When segmental spinal
instrumentation is used, postoperative bracing, which can interfere with the
ability of the patient to breathe as deeply as possible, should be
unnecessary.
Despite aggressive postoperative management, complications in this patient
population are commonly encountered. In a study of thirty patients, Ramirez et
al. found that eight patients had major complications and five patients had
minor complications following surgical treatment of
scoliosis18. An
increased rate of complications has been seen in patients who are more
medically fragile. Miller et al. found that pulmonary complications developed
in twelve of sixty-eight patients
postoperatively20.
Preoperative forced vital capacity of <35% of normal was an indicator of a
greater risk for complications. Another study found similar complications in
patients with a forced vital capacity of <30% in comparison with patients
with better preoperative pulmonary
status43.
Wound infections are more frequently seen in neuromuscular patients, and
boys with Duchenne muscular dystrophy are no
exception18,19.
Careful preoperative assessment of nutritional status may play a role in
decreasing the occurrence of this complication. Malnutrition has also been
shown to develop postoperatively in patients with Duchenne muscular dystrophy
who undergo spinal fusion. The upright and inflexible posture that is achieved
due to instrumentation and fusion prevents the boys from slouching forward to
the wheelchair tray to feed themselves, resulting in weight loss and
malnutrition44. A
postoperative feeding evaluation performed by an occupational therapist can be
helpful in educating the family.
Finally, cardiac failure has been described in boys with Duchenne muscular
dystrophy and can be fatal. Many studies have reported sudden death following
spine surgery in these
patients25,45,46.
There is controversy regarding the effect of spinal surgery on progressive
respiratory failure in patients with Duchenne muscular dystrophy. Although
most authors find no proof that pulmonary function tests improve following
surgery20,24,34,47,
results of the study by Galasko et al. provided data to the
contrary48. Galasko
et al. measured pulmonary function preoperatively and at six-month intervals
following spinal fusion in a group of thirty-two patients with Duchenne
muscular dystrophy who underwent spinal fusion and a matched group of
twenty-three patients who did
not48. The patients
who underwent fusion had stabilization of forced vital capacity at three years
postoperatively and an improved peak expiratory flow rate at five years
postoperatively, whereas the patients who did not undergo fusion had a mean
annual decrease in forced vital capacity of 8%. To the contrary, however,
Kennedy et al. found no difference in seven-year survival curves for seventeen
patients who underwent surgery for scoliosis compared with twenty-one patients
who did not undergo fusion for similar curves and found that both groups
experienced an equal rate of decline in forced vital capacity of 3% to 5%
annually33. Miller
et al. established that the age at which pulmonary function declined to a
forced vital capacity of 35% did not differ between twenty-one patients with
scoliosis who had spinal fusion and forty-six patients with scoliosis who did
not have
surgery34.
While preexisting restrictive lung disease and muscle weakness place a
patient with Duchenne muscular dystrophy at risk for perioperative pulmonary
complications that may result in the need for a tracheostomy and prolonged
ventilator use, the postoperative course is expected to result in continued
deterioration throughout the life of the patient. Until recently, the maximum
life span of boys with Duchenne muscular dystrophy was approximately twenty
years8. With an
increasing use of bilateral positive airway pressure and nighttime
ventilation, the life expectancy of patients is now increasing; in a recent
study from Great Britain, Eagle et al. reported up to 53% survival (on
Kaplan-Meier survival curves) at age twenty-five for patients who underwent
management with ventilation in the
1990s49. The
prospect of a more prolonged survival further supports the need for surgical
stabilization of the spine to maintain seating comfort.
Recently, outcome studies have been performed to assess the experience of
the family with regard to scoliosis surgery. High parental satisfaction
(approximately 90% would choose surgery again) with improvements in cosmesis
and in the ability of patients to sit comfortably have been
documented38,45,46.
Research is actively underway in the medical treatment of boys with
Duchenne muscular
dystrophy8,50-52.
Corticosteroids have been utilized, and Canadian researchers have documented
that the use of deflazacort (a derivative of prednisone) prolongs the time
that patients are able to
walk50,51.
The use of steroids also appears to have a positive effect on the prevention
of spinal
deformity51,53,54.
In a recently published study, the prevalence of scoliosis in boys taking
deflazacort was markedly diminished, and only five of the thirty boys treated
required surgery for stabilization of spinal deformity, compared with fifteen
of twenty-four age-matched boys who were not taking
steroids51. It is
not yet known whether or not the treated cohort of boys will develop scoliosis
or if there will simply be a delay in the onset of scoliosis. If scoliosis
does not occur in younger boys who receive corticosteroids, and if deformity
is absent during the adolescent growth spurt, it is possible that appreciable
deformity may be definitively prevented. There are known adverse effects to
corticosteroid treatment, however, including obesity and osteopenia. Concerns
regarding osteopenia have led to the addition of calcium and vitamin-D
supplementation to steroid treatment
regimens55. The
results of comparative studies to assess various corticosteroid treatment
regimens have shown that the rate of scoliosis tends to increase when the
steroid dosage is
decreased55.
Other medical treatments being investigated for use in patients with
Duchenne muscular dystrophy include gentamicin
therapy56. A small
subset of children with Duchenne muscular dystrophy is genetically distinct in
that the molecular basis of the disease involves a stop codon rather than a
deletion in the dystrophin gene. Gentamicin has been found to inhibit stop
codons and allow the production of dystrophin and is thus useful in this
subset of affected boys.
While corticosteroids and gentamicin may delay death in patients with
Duchenne muscular dystrophy, these medications are not curative. Great
attention has been given to gene therapy as the answer to the definitive cure
for this fatal
disease57,58.
The dystrophin gene is unfortunately a large and very complex gene and is
therefore difficult to transfer successfully into an affected subject. The
dystrophin gene (either full-sized or miniaturized) has been grafted via
adenoviral vectors in the dystrophin-deficient mouse, but has not yet been
grafted in affected boys. Myoblast transfer has also been investigated but has
not been found to preserve muscle strength in these
patients59.
Upregulation of dystrophin-related proteins, which can partially compensate
for the lack of dystrophin in the cell membrane, is being
investigated57.
?
Kunkel LM, Hejtmancik JF, Caskey CT,
Speer A, Monaco AP, Middlesworth W, Colletti CA, Bertelson C, Muller U,
Bresnan M, Shapiro F, Tantravahi U, Speer J, Latt SA, Bartlett R,
Pericak-Vance MA, Roses AD, Thompson MW, Ray PN, Worton RG, Fischbeck KH,
Gallano P, Coulon M, Duros C, Boue J, Junien C, Chelly J, Hamard G, Jeanpierre
M, Lambert M, Kaplan JC, Emery A, Dorkins H, McGlade S, Davies KE, Boehm C,
Arveiler B, Lemaire C, Morgan GJ, Denton MJ, Amos J, Bobrow M, Benham F,
Boswinkel E, Cole C, Dubowitz V, Hart K, Hodgson S, Johnson L, Walker A,
Roncuzzi L, Ferlini A, Nobile C, Romeo G, Wilcox DE, Affara NA, Ferguson-Smith
MA, Lindolf M, Kaariainen H, de la Chapelle A, Ionasescu V, Searby C,
Ionasescu R, Bakker E, van Ommen GJ, Pearson PL, Greenberg CR, Hamerton JL,
Wrogemann K, Doherty RA, Polakowska R, Hyser C, Quirk S, Thomas N, Harper JF,
Darras BT, Francke U. Analysis of deletions in DNA from patients with Becker
and Duchenne muscular dystrophy. Nature.
1986;322:
73-7.32273
1986
[PubMed][CrossRef]
Hoffman EP, Fischbeck KH, Brown RH,
Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L,
Kupsky W, Chamberlain J, Caskey CT, Shapiro F, Kunkel LM. Characterization of
dystrophin in muscle-biopsy specimens from patients with Duchenne's or
Becker's muscular dystrophy. N Engl J Med.
1988;318:
1363-8.3181363
1988
[PubMed][CrossRef]
Bushby KM, Gardner-Medwin D, Nicholson
LV, Johnson MA, Haggerty ID, Cleghorn NJ, Harris JB, Bhattacharya SS. The
clinical, genetic, and dystrophin characteristics of Becker muscular
dystrophy. II. Correlation of phenotype with genetic and protein
abnormalities. J Neurol.
1993;240:
105-12.240105
1993
[PubMed][CrossRef]
Samaha FJ, Quinlan JG.
Dystrophinopathies: clarification and complication. J Child
Neurol. 1996;11:
13-20.1113
1996
[CrossRef]
Prior TW, Bridgeman SJ. Experience and
strategy for the molecular testing of Duchenne muscular dystrophy. J
Mol Diagn. 2005;7:
317-26.7317
2005
[CrossRef]
Richards S, Iannaccone ST. Dystrophin
and DNA diagnosis in a large pediatric muscle clinic. Child
Neurol. 1994;9:
162-6.9162
1994
[CrossRef]
Hoffman EP. Muscular dystrophy:
identification and use of genes for diagnostics and therapeutics. Arch
Pathol Lab Med. 1999;123:
1050-2.1231050
1999
Sussman M. Duchenne muscular dystrophy.
J Am Acad Orthop Surg.
2002;10:
138-51.10138
2002
[PubMed]
Smith AD, Koreska J, Moseley CF.
Progression of scoliosis in Duchenne muscular dystrophy. J Bone Joint
Surg Am. 1989;71:
1066-74.711066
1989
Oda T, Shimizu N, Yonenobu K, Ono K,
Nabeshima T, Kyoh S. Longitudinal study of spinal deformity in Duchenne
muscular dystrophy. J Pediatr Orthop.
1993;13:
478-88.13478
1993
[PubMed][CrossRef]
Wilkins KE, Gibson DA. The patterns of
spinal deformity in Duchenne muscular dystrophy. J Bone Joint Surg
Am. 1976;58:
24-32.5824
1976
Cambridge W, Drennan JC. Scoliosis
associated with Duchenne muscular dystrophy. J Pediatr Orthop.
1987;7:
436-40.7436
1987
[PubMed][CrossRef]
Seeger BR, Sutherland AD, Clark MS.
Orthotic management of scoliosis in Duchenne muscular dystrophy. Arch
Phys Med Rehabil. 1984;65:
83-6.6583
1984
Colbert AP, Craig C. Scoliosis
management in Duchenne muscular dystrophy: prospective study of modified
Jewett hyperextension brace. Arch Phys Med Rehab.
1987;68:
302-4.68302
1987
Sussman MD. Advantage of early spinal
stabilization and fusion in patients with Duchenne muscular dystrophy.
J Pediatr Orthop. 1984;4:
532-7.4532
1984
[PubMed]
Kurz LT, Mubarak SJ, Schultz P, Park SM,
Leach J. Correlation of scoliosis and pulmonary function in Duchenne muscular
dystrophy. J Pediatr Orthop.
1983;3:
347-53.3347
1983
[PubMed][CrossRef]
Finsterer J, Stollberger C. The heart in
human dystrophinopathies. Cardiology.
2003;99:
1-19.991
2003
[PubMed][CrossRef]
Ramirez N, Richards BS, Warren PD,
Williams GR. Complications after posterior spinal fusion in Duchenne's
muscular dystrophy. J Pediatr Orthop.
1997;17:
109-14.17109
1997
[PubMed][CrossRef]
Heller KD, Wirtz DC, Siebert CH, Forst
R. Spinal stabilization in Duchenne muscular dystrophy: principles of
treatment and record of 31 operative treated cases. J Pediatr Orthop
B. 2001;10:
18-24.1018
2001
[CrossRef]
Miller F, Moseley CF, Koreska J. Spinal
fusion in Duchenne muscular dystrophy. Dev Med Child Neurol.
1992;34:
775-86.34775
1992
[PubMed][CrossRef]
Harper CM, Ambler G, Edge G. The
prognostic value of pre-operative predicted forced vital capacity in
corrective spinal surgery for Duchenne's muscular dystrophy.
Anaesthesia. 2004;59:
1160-2.591160
2004
[PubMed][CrossRef]
Gomez-Merino E, Bach JR. Duchenne
muscular dystrophy: prolongation of life by noninvasive ventilation and
mechanically assisted coughing. Am J Phys Med Rehabil.
2002;81:
411-5.81411
2002
[PubMed][CrossRef]
Soudon P, Hody JL, Bellen P.
Preoperative cardiopulmonary assessment in the child with neuromuscular
scoliosis. J Pediatr Orthop B.
2000;9:
229-33.9229
2000
[PubMed]
Shapiro F, Sethna N, Colan S, Wohl ME,
Specht L. Spinal fusion in Duchenne muscular dystrophy: a multidisciplinary
approach. Muscle Nerve.
1992;15:
604-14.15604
1992
[PubMed][CrossRef]
Heiman-Patterson TD, Natter HM,
Rosenberg HR, Fletcher JE, Tahmoush AJ. Malignant hyperthermia susceptibility
in X-linked muscle dystrophies. Pediatr Neurol.
1986;2:
356-8.2356
1986
[PubMed][CrossRef]
Larach MG, Rosenberg H, Gronert GA,
Allen GC. Hyperkalemic cardiac arrest during anesthesia in infants and
children with occult myopathies. Clin Pediatr (Phila).
1997;36:
9-16.369
1997
[PubMed][CrossRef]
Wedel DJ. Malignant hyperthermia and
neuromuscular disease. Neuromuscul Disord.
1992;2:
157-64.2157
1992
[PubMed][CrossRef]
Sullivan M, Thompson WK, Hill GD.
Succinylcholine-induced cardiac arrest in children with undiagnosed myopathy.
Can J Anaesth. 1994;41:
497-50141497
1994
[PubMed][CrossRef]
Fox HJ, Thomas CH, Thompson AG. Spinal
instrumentation for Duchenne's muscular dystrophy: experience of hypotensive
anaesthesia to minimize blood loss. J Pediatr Orthop.
1997;17:
750-3.17750
1997
[PubMed][CrossRef]
Noordeen MH, Haddad FS, Muntoni F, Gobbi
P, Hollyer JS, Bentley G. Blood loss in Duchenne muscular dystrophy: vascular
smooth muscle dysfunction? J Pediatr Orthop B.
1999;8:
212-5.8212
1999
[PubMed][CrossRef]
Turturro F, Rocca B, Gumina S, De
Cristofaro R, Mangiola F, Maggiano N, Evangelista A, Salsano V, Montanaro A.
Impaired primary hemostasis with normal platelet function in Duchenne muscular
dystrophy during highly-invasive spinal surgery. Neuromuscul
Disord. 2005;15:
532-40.15532
2005
[CrossRef]
Forst J, Forst R, Leithe H, Maurin N.
Platelet function deficiency in Duchenne muscular dystrophy.
Neuromuscul Disord. 1998;8:
46-9.846
1998
[PubMed][CrossRef]
Kennedy JD, Staples AJ, Brook PD,
Parsons DW, Sutherland AD, Martin AJ, Stern LM, Foster BK. Effect of spinal
surgery on lung function in Duchenne muscular dystrophy.
Thorax. 1995;50:
1173-8.501173
1995
[PubMed][CrossRef]
Miller F, Moseley CF, Koreska J, Levison
H. Pulmonary function and scoliosis in Duchenne dystrophy. J Pediatr
Orthop. 1988;8:
133-7.8133
1988
Mubarak SJ, Morin WD, Leach J. Spinal
fusion in Duchenne muscular dystrophy—fixation and fusion to the
sacropelvis? J Pediatr Orthop.
1993;13:
752-7.13752
1993
[PubMed][CrossRef]
Sengupta DK, Mehdian SH, McConnell JR,
Eisenstein SM, Webb JK. Pelvic or lumbar fixation for the surgical management
of scoliosis in Duchenne muscular dystrophy. Spine.
2002;27:
2072-9.272072
2002
[PubMed][CrossRef]
Alman BA, Kim HK. Pelvic obliquity after
fusion of the spine in Duchenne muscular dystrophy. J Bone Joint Surg
Br. 1999;81:
821-4.81821
1999
[CrossRef]
Bentley G, Haddad F, Bull TM, Seingry D.
The treatment of scoliosis in muscular dystrophy using modified Luque and
Harrington-Luque instrumentation. J Bone Joint Surg Br.
2001;83:
22-8.8322
2001
[PubMed][CrossRef]
Gaine WJ, Lim J, Stephenson W, Galasko
CS. Progression of scoliosis after spinal fusion in Duchenne's muscular
dystrophy. J Bone Joint Surg Br.
2004;86:
550-5.86550
2004
[PubMed]
Brook PD, Kennedy JD, Stern LM,
Sutherland AD, Foster BK. Spinal fusion in Duchenne's muscular dystrophy.
J Pediatr Orthop. 1996;16:
324-31.16324
1996
[PubMed][CrossRef]
McCarthy RE, Bruffett WL, McCullough FL.
S rod fixation to the pelvis in patients with neuromuscular spinal
deformities. Clin Orthop Relat Res.
1999;364:
26-31.36426
1999
[PubMed][CrossRef]
Marchesi D, Arlet V, Stricker U, Aebi M.
Modification of the original Luque technique in the treatment of Duchenne's
neuromuscular scoliosis. J Pediatr Orthop.
1997;17:
743-9.17743
1997
[PubMed][CrossRef]
Marsh A, Edge G, Lehovsky J. Spinal
fusion in patients with Duchenne's muscular dystrophy and a low forced vital
capacity. Eur Spine J.
2003;12:
507-12.12507
2003
[PubMed][CrossRef]
Iannaccone ST, Owens H, Scott J, Teitell
B. Postoperative malnutrition in Duchenne muscular dystrophy. J Child
Neurol. 2003;18:
17-20.1817
2003
[CrossRef]
Granata C, Merlini L, Cervellati S,
Ballestrazzi A, Giannini S, Corbascio M, Lari S. Long-term results of spine
surgery in Duchenne muscular dystrophy. Neuromuscul Disord.
1996;6:
61-8.661
1996
[PubMed][CrossRef]
Bridwell KH, Baldus C, Iffrig TM, Lenke
LG, Blanke K. Process measures and patient/parent evaluation of surgical
management of spinal deformities in patients with progressive flaccid
neuromuscular scoliosis (Duchenne's muscular dystrophy and spinal muscular
atrophy). Spine. 1999;24:
1300-9.241300
1999
[PubMed][CrossRef]
Miller RG, Chalmers AC, Dao H,
Filler-Katz A, Holman D, Bost F. The effect of spine fusion on respiratory
function in Duchenne muscular dystrophy. Neurology.
1991;41:
38-40.4138
1991
[PubMed]
Galasko CS, Delaney C, Morris P. Spinal
stabilisation in Duchenne muscular dystrophy. J Bone Joint Surg
Br. 1992;74:
210-4.74210
1992
Eagle M, Baudouin SV, Chandler C,
Giddings DR, Bullock R, Bushby K. Survival in Duchenne muscular dystrophy:
improvements in life expectancy since 1967 and the impact of home nocturnal
ventilation. Neuromusc Disord.
2002;12:
926-9.12926
2002
[PubMed][CrossRef]
Biggar WD, Klamut HJ, Demacio PC,
Stevens DJ, Ray PN. Duchenne muscular dystrophy: current knowledge, treatment,
and future prospects. Clin Orthop Relat Res.
2002;401:
88-106.40188
2002
[PubMed][CrossRef]
Alman BA, Raza SN, Biggar WD. Steroid
treatment and the development of scoliosis in males with Duchenne muscular
dystrophy. J Bone Joint Surg Am.
2004;86:
519-24.86519
2004
[PubMed]
Griggs RC, Moxley RT 3rd, Mendell JR,
Fenichel GM, Brooke MH, Pestronk A, Miller JP, Cwik VA, Pandya S, Robison J.
Duchenne dystrophy: randomized, controlled trial of prednisone (18 months) and
azathioprine (12 months). Neurology.
1993;43:
520-7.43520
1993
[PubMed]
Fenichel GM, Florence JM, Pestronk A,
Mendell JR, Moxley RT 3rd, Griggs RC, Brooke MH, Miller JP, Robison J, King W.
Long-term benefit from prednisone therapy in Duchenne muscular dystrophy.
Neurology. 1991;41:
1874-7.411874
1991
[PubMed]
Balaban B, Matthews DJ, Clayton GH,
Carry T. Corticosteroid treatment and functional improvement in Duchenne
muscular dystrophy: long-term effect. Am J Phys Med Rehabil.
2005;84:
843-50.84843
2005
[PubMed][CrossRef]
Biggar WD, Politano L, Harris VA,
Passamano L, Vajsar J, Alman B, Palladino A, Comi LI, Nigro G. Deflazacort in
Duchenne muscular dystrophy: a comparison of two different protocols.
Neuromuscul Disord.
2004;14:
476-82.14476
2004
[PubMed][CrossRef]
Politano L, Nigro G, Nigro V, Piluso G,
Papparella S, Paciello O, Comi LI. Gentamicin administration in Duchenne
patients with premature stop codon. Preliminary results. Acta
Myol. 2003;22:
15-21.2215
2003
Kapsa R, Kornberg AJ, Byrne E. Novel
therapies for Duchenne muscular dystrophy. Lancet Neurol.
2003;2:
299-310.2299
2003
[PubMed][CrossRef]
Karpati G, Gilbert R, Petrof BJ,
Nalbantoglu J. Gene therapy research for Duchenne and Becker muscular
dystrophies. Curr Opin Neurol.
1997;10:
430-5.10430
1997
[PubMed][CrossRef]
Mendell JR, Kissel JT, Amato AA, King W,
Signore L, Prior TW, Sahenk Z, Benson S, McAndrew PE, Rice R, Nagaraja H,
Stephens R, Lantry L, Morris GE, Burghes AHM. Myoblast transfer in the
treatment of Duchenne's muscular dystrophy. N Engl J Med.
1995;333:
832-8.333832
1995
[PubMed][CrossRef]