The shoulder in patients with muscular dystrophy

Shoulder weakness and instability are not usually a major part of the clinical picture of muscular dystrophies. Problems usually do not arise until the patient is wheelchair bound, at which time assistive appliances may be required. The majority of orthopaedic intervention is confined to the rare facioscapulohumeral dystrophy. Facioscapulohumeral dystrophy causes muscular weakness of the face, shoulder girdle, and upper arm with selective sparing of the deltoid muscle. This leads to scapular winging and a marked decrease in flexion and abduction of the shoulder. As the muscles stabilizing the scapula become involved, the scapula starts to wing. The deltoid is spared, but its action is wasted because of the unstable scapula. The deltoid contracts and the arm attempts to move in a normal fashion, but because the scapula is no longer stable, it wings and rotates under the forces of the long lever arm of the upper limb and scapula complex. Mechanical fixation of the scapula to the thoracic wall provides a stable fulcrum on which the deltoid can exert its powerful action on the humerus and abduct the arm without rotation of the scapula. Twenty thoracoscapular fusions were performed on 13 patients. Ten patients (14 shoulders) were available for long term followup. The long term results showed that this operation is successful in achieving stability of the scapula, while greatly improving function and cosmesis. Although the course of this type of muscular dystrophy is variable, the benefits of surgery have not deteriorated with progression of the disease during a maximum followup of 44 years.     

Cisatracurium pharmacodynamics in patients with oculopharyngeal muscular dystrophy

The pharmacodynamics of muscle relaxants in patients with oculopharyngeal muscular dystrophy (OPMD) have never been studied. We designed this study to compare the pharmacodynamics of cisatracurium in OPMD patients versus a control group. Forty patients were enrolled: 20 OPMD patients requiring general anesthesia for cricopharyngeal myotomy and 20 age-matched controls undergoing an operation of similar duration and expected blood loss. Anesthesia was standardized, and both groups received a bolus of cisatracurium 0.1 mg/kg. Onset time, time to 10% T1 recovery, and the intervals 10%-25% and 25%-75% were calculated for both groups. A subgroup analysis was performed in patients with a more severe form of OPMD. Demographic and intraoperative data were similar. Onset time was significantly longer in OPMD patients compared with the control group (4.6 +/- 1.5 min versus 3.4 +/- 1.0 min; P = 0.001). There was no difference in recovery times or indices between groups, regardless of the severity of the disease. In conclusion, there was no difference in the duration of a cisatracurium-induced neuromuscular block between OPMD patients and a control group. A delayed onset of action of the drug may occur.     

Rapacuronium administration to two children with Duchenne's muscular dystrophy

Children with Duchenne's muscular dystrophy should not be exposed to succinylcholine because of the risk of hyperkalemic cardiac arrest and rhabdomyolysis. This report describes the response to rapacuronium bromide in two patients with Duchenne's muscular dystrophy. Both patients had a recovery index 2 times longer than that reported in children with normal neuromuscular function.     

Spinal correction in patients with Fukuyama congenital muscular dystrophy

Background

Fukuyama congenital muscular dystrophy (FCMD) is one of the most common congenital progressive muscular dystrophies in Japan. Some patients develop a severe spinal deformity that leads to an unstable sitting position or pain. Since 2008, we have treated FCMD using posterior spinal fusion. This study reports the short-term clinical and radiographic results of posterior spinal correction and fusion in FCMD.

Treatment of foot deformities in patients with Duchenne muscular dystrophy

AIM: There are different approaches to treat foot deformities in Duchenne muscular dystrophy. Some authors recommend conservative, others only surgical means. The purpose of this study was to compare the outcome of both non-surgical and surgical treatment. METHOD: The records of 91 boys with DMD were retrospectively evaluated. The three treatment groups studied included group 1, those who had no surgery, group 2, those who had surgery to correct foot position, and group 3, those who had surgery to maintain ambulation and correct foot position. RESULTS: Although conservative treatment of the feet in group 1 was carried out, severe equinovarus deformities developed. Surgery for the foot deformity including posterior tibial transfer was successful in 94 % at mean 8.5 years post-operative follow-up. The mean age of cessation of ambulation for those who had surgery to maintain ambulation was 11.2 years versus 10.3 years of those who did not have surgery (p < 0.05). CONCLUSION: In patients with DMD, lower extremity surgery including posterior tibial tendon transfer can successfully correct and maintain foot position, as well as prolong ambulation. Early surgical treatment is required since conservative means can not prevent progression to severe equinovarus deformities.     

Decreased bone density in ambulatory patients with duchenne muscular dystrophy

Osteoporosis has been recognized in nonambulatory boys with Duchenne's muscular dystrophy. In this study, the hips and spines of 10 ambulatory children with Duchenne's muscular dystrophy were examined. The study group comprised 10 boys with a mean age of 8 years (range 6-11). All patients were scanned by dual-energy x-ray absorptiometry (DEXA) using a DPX LUNAR Corporation scanner (Madison, WI, U.S.A.). Manual muscle testing of the major muscle groups of the upper and lower extremities was performed on all patients. Pubertal development status was determined using the Tanner scale. Although they were still ambulatory, boys diagnosed with Duchenne's muscular dystrophy experienced weakness in the lower extremity musculature, as well as proximal femur and lumbar spine osteoporosis or osteopenia.     

Surgical correction of spinal deformity in patients with congenital muscular dystrophy

Background  

Congenital muscular dystrophy (CMD), among the myopathic disorders is one form of flaccid neuromuscular disorder (NMD). Patients with NMD frequently develop progressive spinal deformity. For NMD patients who have a severe spinal deformity, sitting is often difficult and is accompanied by pain and breakdown of the skin. Spinal deformity surgery in these patients has been highly effective in stabilizing the spine, maintaining upright, comfortable sitting balance, and improving patients’ quality of life. However, many studies have reported significant rates of peri/postoperative complications in these patients. To our knowledge, there has been no study on the results of spinal deformity surgery in patients with CMD. The purpose of this study was to review the clinical and radiological results of spinal deformity surgery in this group of patients with CMD.     

Surgical prevention of foot deformity in patients with Duchenne muscular dystrophy

The purpose of this study was to evaluate the results of a modification of the posterior tibial tendon transfer in Duchenne muscular dystrophy patients with regard to foot deformity and ambulation. The records of 57 patients with Duchenne muscular dystrophy were retrospectively reviewed. Three treatment groups were studied: group 1, those who had surgery to maintain ambulation; group 2, those who had surgery to correct and maintain foot position; and group 3, those who had no surgery. All surgical patients had posterior tibial tendon transfer and Achilles tendon lengthening as part of their procedure. Thirty-four patients returned for interviews and examinations to assess outcomes and foot position. The mean age at cessation of ambulation for those who had surgery was 11.2 years versus 10.3 years for those who did not have surgery. Of 48 feet in 24 patients who underwent lower extremity surgery to correct and maintain foot position, 94% were clinically satisfactory at a mean of 8.5 years after surgery. Regardless of the desire to continue ambulation, all patients should have posterior tibial tendon transfer, Achilles tendon lengthening, and toe flexor tenotomies to maintain plantigrade feet.     

Heart transplantation in patients with Emery-Dreifuss muscular dystrophy: case reports

Emery-Dreifuss muscular dystrophy (EDMD) is an hereditary syndrome characterized by slow but progressive locomotor involvement and cardiomyopathy. Cardiac impairment is often the life-limiting feature of the illness. Only a few cases of cardiac transplantation have been reported previously in muscular dystrophy, and only 4 cases of end-stage disease due to EDMD have been treated previously with heart transplantation. Herein we have reported our experince with 2 consecutive patients who underwent heart transplantation for EDMD cardiomyopathy.     

Diaphragm thickness and inspiratory strength in patients with Duchenne muscular dystrophy

BACKGROUND: There is little information on the morphometric characteristics of the diaphragm in patients with Duchenne muscular dystrophy. METHODS: The thickness of the diaphragm was measured at the zone of apposition using B mode ultrasonography in 10 boys with Duchenne muscular dystrophy of mean (SD) age 10.3 (1.3) years and 12 normal controls of mean (SD) age 11.3 (2.0) years during relaxation (DiTrelax) and during maximum effort inspiratory manoeuvres (DiTPimax) at functional residual capacity. RESULTS: DiTrelax was greater in the patients with Duchenne muscular dystrophy (1.74 (0.21) mm) than in controls (1.48 (0.20) mm), mean difference (95% CI) 0.26 (0.08 to 0.44), despite considerable impairment of maximum effort inspiratory mouth pressure (Pimax) (patients with Duchenne muscular dystrophy -37 (8) cm H2O, controls -80 (33) cm H2O), mean difference (95% CI) 43 (65 to 20). During a Pimax manoeuvre, compared with measurements taken during relaxation, the diaphragm thickened 1.6 times in patients with Duchenne muscular dystrophy and 2.3 times in controls (DiTPimax 2.62 (0.7) mm and 3.5 (0.85) mm, respectively), mean difference (95% CI) - 0.88 (-1.58 to -0.18). CONCLUSIONS: Resting diaphragm thickness is increased in young patients with Duchenne muscular dystrophy with impaired respiratory muscle force. This finding could be analogous to the pseudo-hypertrophy that is observed in some limb muscle groups.


     

Mivacurium in children with Duchenne muscular dystrophy

The authors retrospectively reviewed their experience with mivacurium for neuromuscular blockade in seven children with Duchenne muscular dystrophy. Mivacurium was administered to seven children ranging in age from 8.3 to 14.4 years and in weight from 29 kg to 68 kg during either posterior spinal fusion or lower extremity release. An initial bolus dose of 0.2 mg·kg^?1 was followed by a continuous infusion. Neuromuscular blockade was monitored with a standard twitch monitor and the TOF (2 Hz for 2 s). Complete suppression of all four twitches occurred in 1.5 to 2.6 min. The continuous infusion was started with the return of the first twitch and adjusted to maintain one twitch. Time to recovery of the first twitch varied from 12 to 18 min. Continuous infusion requirements varied from 3 to 20 μg·kg^?1 with an average for the case of less than 10 μg·kg^?1 min^?1 in five of the seven patients. A moderate increase in sensitivity to mivacurium in this patient population is suggested by a decrease in infusion requirements and a prolonged effect following the initial dose.     

Intraoperative neurophysiological monitoring during scoliosis surgery in patients with Duchenne muscular dystrophy

European Spine Journal - Little is known about the reliability and value of intraoperative neurophysiological monitoring (IONM) in patients with Duchenne muscular dystrophy (DMD) undergoing...     

Postoperative complications in patients with oculopharyngeal muscular dystrophy: A retrospective study

PURPOSE: Oculopharyngeal muscular dystrophy (OPMD) is a genetic disease with autosomal dominant transmission particularly common in Quebec where its prevalence is about 1:1000. The main features are bilateral ptosis of the eyelids and dysphagia. These symptoms are frequently treated surgically by levator palpebrae resection (LPR) and cricopharyngeal myotomy (CPM). The objectives of this retrospective chart review were to describe the postoperative complications in OPMD patients undergoing LPR or CPM and to determine their incidence. METHODS: Medical records of all OPMD patients who had either LPR or CPM between 1997 and 2002 were reviewed. The following complications were collected: death, pneumonia, aspiration pneumonitis, airway obstruction, reintubation, and severe coughing and choking caused by profuse secretions. RESULTS: One hundred and fourteen surgeries on 92 OPMD patients were studied. Fifty-nine were LPR under general anesthesia (LPR-GA) and 22 were LPR under local anesthesia (LPR-LA). Thirty-three surgeries were CPM, all under general anesthesia. There was no death or reintubation. Patients who had LPR-LA had shorter postanesthesia care unit (P<0.001) and ambulatory surgery unit (P<0.001) stays than those who had LPR-GA. Complications were more frequent after CPM than LPR-GA (P<0.001). CONCLUSION: The complication rate after LPR was low. Both local and general anesthesia are safe alternatives in OPMD patients operated for LPR. Patients having CPM presented more respiratory complications than those having LPR.