The study included 112 patients with diagnosis of DMD at National Institute of Pediatrics and 24 patient’s brothers. The results showed that: value of definitive diagnosis of creatine kinase (CK) test were 100% (CK levels of 100% patients were higher than CK levels of normal children). CK method could detect very early DMD even patients who were not yet clinical expression (11/24 patient’s were not yet clinical expression detected DMD by CK). The value of CK for heterozygote detection was 82.3% for DMD patient’s mothers who had clearly family history and 35.3% for DMD patient’s mothers who had only one child with DMD in the family. Based on PCR result analysis, gene mutation of two DMD patient with clearly family history had not belonged to 48- exon.
diagnosis ; Creatine Kinase ; Heterozygote ; Muscular Dystrophy, Duchenne

AND samples of 85 Duchenne/Becker muscular dystrophy patients treated at Department of Endocrinology, Pediatric Hopital Swede-Ha Noi were analyzed. Patients were diagnosed based on typical clinical characteristic of disease, increasing plasma CK concentration and family prehistory. The result showed that mutation is quite common, concentrating mainly at 5’ final region and central region, analyzing 19 exons among 79 exons of total dystrophin gene have been detected nearly 40% patient with mutation of wipe section. Appling PCR method to determine mutation on 19 typical exons will allow fastly and exactly diagnosis
Diagnosis ; Muscular Dystrophy, Duchenne ; Diagnosis ; Polymerase Chain Reaction

Humans ; Muscular Dystrophy, Duchenne/diagnosis* ; Cardiomyopathy, Dilated/diagnosis* ; Echocardiography ; Patients

Duchenne muscular dystrophy usually affects males. However, females are also affected in rare instances. Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness to some extent. We investigated the clinical features of 3 female patients with dystrophinopathy diagnosed by clinical, pathological, and genetic studies at our neuromuscular disease clinic. The onset age of manifesting symptoms varied (8-28 years). Muscle weakness grade varied as follows: patient 1 showed asymmetrical bilateral proximal upper and lower extremities weakness, patient 2 showed asymmetrical bilateral upper extremities weakness similar to scapulohumoral muscular dystrophy, and patient 3 had only bilateral asymmetric proximal lower extremities weakness. Two patients had familial histories of DMD (their sons were diagnosed with DMD), but the 1 remaining patient had no familial history of DMD. The serum creatine kinase level was elevated in all patients, but it was not correlated with muscular weakness. An electromyography study showed findings of myopathy in all patients. One patient was diagnosed with a DMD carrier by a muscle biopsy with an immunohistochemical stain (dystrophin). The remaining 2 patients with familial history of DMD were diagnosed by multiplex ligation-dependent probe amplification (MLPA). There were inconsistent clinical features in the female carriers. An immunohistochemical analysis of dystrophin could be useful for female carrier patients. Also, multiplex ligation-dependent probe amplification is essential for the diagnosis of a manifesting female carrier DMD in female myopathic patients because conventional multiplex PCR could not detect the duplication and is less accurate compared to MLPA.
Adult ; Child ; Female ; Humans ; Muscular Dystrophy, Duchenne/*diagnosis

Duchenne muscular dystrophy usually affects males. However, females are also affected in rare instances. Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness to some extent. We investigated the clinical features of 3 female patients with dystrophinopathy diagnosed by clinical, pathological, and genetic studies at our neuromuscular disease clinic. The onset age of manifesting symptoms varied (8-28 years). Muscle weakness grade varied as follows: patient 1 showed asymmetrical bilateral proximal upper and lower extremities weakness, patient 2 showed asymmetrical bilateral upper extremities weakness similar to scapulohumoral muscular dystrophy, and patient 3 had only bilateral asymmetric proximal lower extremities weakness. Two patients had familial histories of DMD (their sons were diagnosed with DMD), but the 1 remaining patient had no familial history of DMD. The serum creatine kinase level was elevated in all patients, but it was not correlated with muscular weakness. An electromyography study showed findings of myopathy in all patients. One patient was diagnosed with a DMD carrier by a muscle biopsy with an immunohistochemical stain (dystrophin). The remaining 2 patients with familial history of DMD were diagnosed by multiplex ligation-dependent probe amplification (MLPA). There were inconsistent clinical features in the female carriers. An immunohistochemical analysis of dystrophin could be useful for female carrier patients. Also, multiplex ligation-dependent probe amplification is essential for the diagnosis of a manifesting female carrier DMD in female myopathic patients because conventional multiplex PCR could not detect the duplication and is less accurate compared to MLPA.
Adult ; Child ; Female ; Humans ; Muscular Dystrophy, Duchenne/*diagnosis

The real-time ultrasonography is a simple, noninvasive procedure that is most suitable for application in pediatric practice. The ultrasonographic appearance of various disorders in children such as progressive muscular dystrophies, infantile spinal muscular atrophy, congenital myopathies, and motor neuropathies has been found to be strikingly abnormal. We have done a pilot study using real-time ultrasonography in children with Duchenne muscular dystrophy in an attempt to correlate their clinicopathologic profiles with scan findings. Echogenicity and delineation of fascia at midthigh and midcalf muscle were measured using a real-time linear array ultrasound scanner in 12 Duchenne mucular dystrophy patients attending our Muscle Clinic, as a double-blind pilot study matched against 10 controls. The ultrasonic scan findings in normal children revealed no echogenicity of muscle, distinct echogenicity of bone and delineation of fascia. But all Duchenne muscular dystrophy patients had increased echogenicity of muscle and decreased echogenicity of bone, and some patients had interruption of delineation of fascia. Duchenne muscular dystrophy patients who were unable to raise from standard height chair showed higher grade of echogenicity at midthigh level than the patients who were able to raise from standard height chair. But this result was not applicable at midcalf level. We concluded that the real-time ultrasonography was useful diagnosis method in Duchenne muscular dystrophy. In addition, when the real-time B ultrasonography was applied to midthigh level, the ultrasonic scan findings could reflect indirectly the functional ability of Duchenne muscular dystrophy patients.
Child ; Diagnosis ; Fascia ; Humans ; Muscular Diseases ; Muscular Dystrophies ; Muscular Dystrophy, Duchenne* ; Pilot Projects ; Spinal Muscular Atrophies of Childhood ; Ultrasonics ; Ultrasonography*

No abstract available.
Epidermolysis Bullosa ; Muscular Dystrophy, Duchenne ; Ornithine Carbamoyltransferase ; Polymerase Chain Reaction* ; Preimplantation Diagnosis*

PURPOSE: The objective of this study is to evaluate the value of multiple-PCR as a diagnostic modality in detection of dystrophin gene deletion by observing its detection rate and concordance rate with clinical diagnosis. MATERIALS AND METHODS: Fifty-two male patients who were clinically diagnosed as DMD or BMD (Duchenne or Becker muscular dystrophy) and received multiple-PCR from 1994 to 1997 at our center were included in this study. The relationship between clinical phenotype and the location of gene deletion were studied using reading-frame rule. Dystrophin protein analysis by immunocyto-chemical technique was done in 7 cases with negative multiplex-PCR. RESULTS: Out of fifty-two patients, thirty-four were DMD and eighteen as BMD clinically. Multiplex-PCR revealed dystrophin gene deletion in 19 patients (36%) consisting of twelve DMD and seven BMD cases. The locations of the gene deletion coincide with the clinical phenotype in 17 cases (89%). Among the 7 cases that underwent dystrophin protein analysis, 3 DMD and 2 BMD were confirmed. CONCLUSIONS: Though no substantial gene deletion detection rate was observed in this study, multiple-PCR could be used as a first-line diagnostic tool in detecting dystrophin gene deletion in DMD/BMD patients based on its high concordance rate with phenotype and favorable patient compliance and convenience.
Diagnosis* ; Dystrophin ; Gene Deletion ; Humans ; Male ; Muscular Dystrophy, Duchenne* ; Patient Compliance ; Phenotype

OBJECTIVE: To establish a screening model for females of reproductive age carrying Duchenne muscular dystrophy (DMD) variants based on a current community health examination platform. METHODS: A total of 61 870 participants were recruited between October 2017 and October 2019. Serum creatine kinase (CK) was measured with a Roche Cobasc 701/702 using an enzymatic rate method. Genetic testing was offered to those with a CK level of ≥ 200 U/L. For carriers of DMD variants, genetic counseling and follow up were provided. RESULTS: For the 61 870 females participating in the program, 1078 were found with raised serum CK (≥ 200 U/L), of which 618 (57.33%) accepted CK re-measurement after at least a two-week interval. One hundred and twenty cases were found with sustained serum CK elevation, of which 6 were confirmed to be definite DMD carriers regardless of family history. Genetic testing was provided to 33 females with a family history for DMD, and 13 were determined as definite carriers. An affected fetus was detected by prenatal diagnosis. After genetic counseling, the parents had opted induced abortion. CONCLUSION Large-scale DMD carrier screening through a three-step approach based on the current community health examination platform is both feasible and cost effective.
Female ; Genetic Carrier Screening ; Genetic Counseling ; Genetic Testing ; Humans ; Muscular Dystrophy, Duchenne/genetics* ; Pregnancy ; Prenatal Diagnosis

No abstract available.
Diagnosis* ; Multiplex Polymerase Chain Reaction* ; Muscular Dystrophy, Duchenne* ; Polymerase Chain Reaction*