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To investigate the relationship between serum creatine kinase (CK) level and pulmonary function in Duchenne muscular dystrophy (DMD).
A total of 202 patients with DMD admitted to the Department of Rehabilitation Medicine, Gangnam Severance Hospital were enrolled from January 1, 1999 to March 31, 2015. Seventeen patients were excluded. Data collected from the 185 patients included age, height, weight, body mass index, pulmonary function tests including forced vital capacity (FVC), peak cough flow, maximal expiratory pressure (MEP), and maximal inspiratory pressure (MIP), and laboratory measurements (serum level of CK, CK-MB, troponin-T, and B-type natriuretic peptide). FVC, MEP, and MIP were expressed as percentages of predicted normal values.
Serum CK activities were elevated above normal levels, even in the oldest DMD group. Serum CK level was strongly correlated with pulmonary functions of sitting FVC (p<0.001), supine FVC (p<0.001), MIP (p=0.004), and MEP (p<0.001).
Serum CK level is a reliable screening test even in patients with advanced DMD, and is a strong predictor of pulmonary functions.
Citations
To determine the abnormal pulmonary function value in Korean Duchenne muscular dystrophy (DMD) patients, we performed a comparative analysis of the patients' pulmonary function value expressed as % of the overseas reference data and Korean healthy children and adolescent reference data.
We performed pulmonary function test (PFT) in a total of 27 DMD patients. We compared the patients' FVC% and FEV1% of the overseas reference data with those of the Korean children and adolescent reference data. Also, we compared the patients' MIP% and MEP% of the prediction equation data with those of the Korean children and adolescent reference data.
Age of the subjects ranged from 8 to 16 years (12.03±2.27 years). The mean maximal expiratory pressure (MEP), maximal inspiratory pressure (MIP), vital capacity (VC), forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), and peak cough flow (PCF) were 36.93±9.5 cmH2O, 45.79±17.46 cmH2O, 1.4±0.43 L, 1.45±0.45 L, 1.40±0.41 L, and 206.25±61.21 L/min, respectively. The MIP%, MEP%, and FVC% of the Korean children and adolescent reference data showed statistically significant higher values than those of the prediction equation data.
We observed a clear numeric difference between Korean DMD patients' pulmonary function value expressed as % of the overseas data and inland data. To perform a precise assessment of respiratory function and to determine appropriate respiratory therapy, pulmonary function values of Korean DMD patients should be interpreted taking into account the inland normal pulmonary function test data.
To evaluate pulmonary functions of patients with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD), and myotonic muscular dystrophy (MMD) at the onset of ventilatory insufficiency.
This retrospective study included ALS, DMD, and MMD patients with regular outpatient clinic follow-up in the Department of Rehabilitation Medicine at Gangnam Severance Hospital before the application of non-invasive positive pressure ventilation (NIPPV). The patients were enrolled from August 2001 to March 2014. If patients experienced ventilatory insufficiency, they were treated with NIPPV, and their pulmonary functions were subsequently measured.
Ninety-four DMD patients, 41 ALS patients, and 21 MMD patients were included in the study. The mean SpO2 was lower in the MMD group than in the other two groups. The mean forced vital capacity (FVC) in the supine position was approximately low to mid 20% on average in DMD and ALS patients, whereas it was 10% higher in MMD patients. ALS patients showed a significantly lower FVC in the supine position than in the sitting position. Maximal insufflation capacity, unassisted peak cough flow, maximum inspiratory pressure (MIP), and maximum expiratory pressure (MEP) were significantly higher in MMD group than in the other groups. MEP was significantly the lowest in DMD patients, followed by in ALS, and MMD patients, in order.
Disease-specific values of pulmonary function, including FVC, MEP, and MIP, can be accurately used to assess the onset of ventilatory insufficiency in patients with ALS, DMD, and MMD.
Citations
Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our outpatient clinic. She had orthopedic deformities (scoliosis, joint contractures, and distal joint hyperlaxity), difficulty of respiration, and many skin keloids. Her hip computed tomography showed diffuse fatty infiltration and the 'central shadow' sign in thigh muscles. From the clinical information suggesting collagen type VI related muscle disorder, UCMD was highly considered.
Citations
Low vital capacity is a risk factor for scoliosis correction operation in Duchenne muscular dystrophy (DMD) patients, but pulmonary rehabilitation, including noninvasive intermittent positive pressure ventilator application, air stacking exercise, and assisted coughing technique, reduces the pulmonary complications and perioperative mortality risk. In this case, the patient's preoperative forced vital capacity (FVC) was 8.6% of normal predicted value in sitting position and 9.4% in supine position. He started pulmonary rehabilitation before the operation and continued right after the operation. Scoliosis correction operation was successful without any pulmonary complications, and his discomfort in sitting position was improved. If pulmonary rehabilitative support is provided properly, FVC below 10% of normal predicted value is not a contraindication of scoliosis correction operation in DMD patients.
Citations
To correlate existing evaluation tools with clinical information on Duchenne muscular dystrophy (DMD) patients following age and to investigate genetic mutation and its relationship with clinical function.
The medical records of 121 children with DMD who had visited the pediatric rehabilitation clinic from 2006 to 2009 were reviewed. The mean patient age was 9.9±3.4 years and all subjects were male. Collected data included Brooke scale, Vignos scale, bilateral shoulder abductor and knee extensor muscles power, passive range of motion (PROM) of ankle dorsi-flexion, angle of scoliosis, peak cough flow (PCF), fractional shortening (FS), genetic abnormalities, and use of steroid.
The Brooke and Vignos scales were linearly increased with age (Brooke (y1), Vignos (y2), age (x), y1=0.345x-1.221, RBrooke2=0.435, y2=0.813x-3.079, RVignos2=0.558, p<0.001). In relation to the PROM of ankle dorsi-flexion, there was a linear decrease in both ankles (right and left R2=0.364, 0.372, p<0.001). Muscle power, Cobb angle, PCF, and FS showed diversity in their degrees, irrespective of age. The genetic test for dystrophin identified exon deletions in 58.0% (69/119), duplications in 9.2% (11/119), and no deletions or duplications in 32.8% (39/119). Statistically, the genetic abnormalities and use of steroid were not definitely associated with functional scale.
The Brooke scale, Vignos scale and PROM of ankle dorsi-flexion were partially available to assess DMD patients. However, this study demonstrates the limitations of preexisting scales and clinical parameters incomprehensively reflecting functional changes of DMD patients.
Citations
Method: The subjects were thirty two DMD patients and an age-matched twelve healthy control volunteers. The DMD patients were divided into two groups; ambulatory and non- ambulatory groups. The body composition with dual energy X-ray absorptiometry (DEXA), body mass index (BMI) and functional state of all subjects were measured.
Results: There was no significant difference in BMI among all groups. The non-ambulatory DMD group was siginificantly higher in total body fat (%) compared with other two groups (p＜0.05). The mean lean body mass (%) for upper extrem ities did not show the significant difference; however, for lower extremities, there was a significantly lower in DMD groups (p＜0.05). These findings were corresponded with low muscle functional state for lower extremities in DMD groups.
Conclusion: There was a significant correlation between muscle function and the percentage of mean lean body mass. The assessment of lean body mass by DEXA provides more accurate and reliable information about the muscle function in DMD.
Method: L6 cell, rat skeletal myoblast, was cultured in the low mitogen medium and caveolin-3 expression was observed both by immunocytochemistry and western blot analysis. Localization of caveolin-3 within the muscle tissue was investigated and compared to that of dystrophin. Results: While caveolin-3 was not expressed in the proliferating myolast, caveolin-3 was expressed in the differentiated myoblast. Caveolin-3 and dystrophin were co-expressed in the membrane of muscle tissue and integrated density of caveolin-3 was elevated in the area of muscle injury. In the Duchenne muscular dystrophy, caveolin-3 was expressed in the membrane of muscle tissue, but dystrophin was not.
Conclusion: Caveolin-3 was induced during the myobalst differentiation and its expression was increased during the muscle regeneration. Caveolin-3 was physically associated with dystrophin as a complex, but not absolutely required for the biogenesis of dystrophin complex. (J Korean Acad Rehab Med 2003; 27: 382-387)
Method: We used 15 mdx and 15 control mice. To grade exercise loading, control and mdx mice were divided into free-living, exercise and immobilization groups. Free-living and exercise groups were further divided into steroid-treated and sham-treated groups to evaluate the effect of steroid administration. We measured the apoptotic changes using in situ DNA nick-end labling (TUNEL), DNA fragmentation assay and western blots for Bcl-2 and BAX.
Results: With TUNEL method, the largest number of myonuclei became positive in sham-treated exercise group while apoptosis was significantly reduced in steroid-treated exercise group in mdx mice. Steroid-treated free-living group showed higher rate of apoptotic change than sham-treated free-living group. With western blots for Bcl-2 and BAX, the value of BAX/Bcl-2 ratio was highest in sham-treated exercise group and among free living mdx mice, it was higher in steroid-treated group than sham-treated one.
Conclusion: Apoptosis can be minimized in free living condition while exercise loading or immobilization can cause apoptotic change in muscular dystrophy animal model. Steroid administration induces apoptosis in free living muscle and it alleviates apoptotic damage caused by exercise loading in mdx mice. (J Korean Acad Rehab Med 2003; 27: 232-239)
Objective: To investigate the relationships between scoliosis and kyphotic or lordotic posture in Duchenne muscular dystrophy (DMD) patients, this study explored the factors influencing the development of spinal deformity.
Method: Twenty five DMD patients with scoliosis were conducted to roentgenographic study to obtain Cobb's angle. In addition, rotation grade of the spine, as well as the degree of kyphotic and lordotic postures were obtained using the Moe pedicle method, kyphotic index and lumbosacral angle respectively. The data were assessed for the correlations among spinal deformities as well as the evaluation of functional state. After comprehensive rehabilitation programs for six months including scoliosis correction exercise, breathing exercise and thoracolumbosacral spinal orthosis, the effects of spinal deformity and pulmonary function were analyzed. An age-matched control group of 15 male patients
with scoliosis were analyzed and compared with the experimental group.
Results: In the experimental group, the scoliosis angles were negatively correlated with kyphotic index (r=0.80, p＜ 0.01). In the control group, no correlations of statistical significance were detected among different types of spinal deformity. In addition, the rotation grade was found to be positively correlated with the scoliosis angle in the experimental group (r=0.89, p＜0.01). Furthermore, the larger the scoliosis angle, the patients functional state was found to be poorer (r=0.56, p＜0.01).
Conclusion: In DMD patients, a strong correlation was found between the scoliosis and kyphotic posture. For the prevention of kyphotic posture, further study on the relevant therapeutic approach would be needed. (J Korean Acad Rehab Med 2002; 26: 133-139)
Emery-Dreifuss muscular dystrophy(EDMD) is a very rare, has never reported in Korea, relatively benign muscle disorder caused by defects of emerin.
The clinical triad include 1) early contracture of the elbows, Achilles tendons, and postcervical muscles, 2) progressive weakness and atrophy in a humeroperoneal distribution, and 3) cardiomyopathy characterized by conduction defect. Heart block is a frequent cause of death.
The detection of this disorder is important because insertion of a cardiac pacemaker can be life saving. As emerin was not found in biopsies from patients affected by EDMD and
most mutations in EDMD are null, the immunohistochemical diagnosis can be easily performed by detection the absence of emerin.
We report a 14-year-old boy with slowly progressive scapuloperoneal muscle weakness and atrophy, and contracture of the Achilles tendons, elbows and postcervical muscles. Muscle biopsy showed marked atrophy of myofiber and increased intermysial fibrosis and immunohistochemical study showed emerin deficiency. (J Korean Acad Rehab Med 2002; 26: 99-103)
Objective: To evaluate clinical features in general and possible complications in Duchenne muscular dystrophy (DMD) which could be used for comprehensive rehabilitation management.
Method: One hundred and seventy-two patients with DMD were followed over 3 year period to provide clinical profile causing impairment and disability. We measured height, weight and manual muscle testing (MMT) when the patients visited the hospital. And we could measure pulmonary function, electrocardiogram (EKG), and intelligence quotient (IQ) test in cooporative patients.
Results: The median height and weight of DMD boys were normally distributed before age 12, but during the second decade height was markedly reduced, and weight was no longer normally distributed. The MMT measurement showed loss of strength in a fairly linear fashion according to increasing age, and extensor of lower extremities were weaker than flexors showing typical contractures of legs. There was a direct relationship between pulmonary function and MMT scores of upper extremities. There was a high occurrence (40%) of abnormal EKG, but none of the patients had a history of cardiovascular complication. DMD children suffered wide spectrum of psychological disturbance such as somatic complaints, attention and emotional problems in addition to expected psychological problems due to chronic disease and its progression, and 50.9% of them were below average on the IQ test.
Conclusion: These data on DMD subjects provide clinicians with useful information regarding the prevalence and severity of measurable impairment at different stages of the disease.
Objective: To investigate the pattern of exon deletions in Korean patients with Duchenne muscular dystrophy (DMD), and to find the correlation of the exon-deletion with clinical symptoms or laboratory findings.
Method: Genomic DNA of the nine children with DMD were analyzed by the sets of multiplex PCR and one singlet PCR in total of fifteen primers of the dystrophin gene. The primers were made from the promotor, and the exons 3, 4, 6, 8, 12, 13, 43, 44, 47, 48, 50, 51, 52 and 60 of the dystrophin gene, respectively.
Results: Eight out of nine patients revealed exon deletions. The exon 3 was most commonly deleted (6 patients), and exon 48, 50 and 60 were second most common (2 patients). The exons 4, 6, 13, 44, 47 and 52 were not deleted in all patients.
Conclusion: We found that the exons 3, 48, 50 and 60 are frequently deleted in Korean patients with DMD. The pattern of deletion was not correlate with clinical symptoms or laboratory findings.
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