ABSTRACT
Progressive muscular dystrophy is an X-linked recessive hereditary degenerative disease caused by dystrophin gene defects, and there is currently no effective treatment.With the further study of progressive muscular dystrophy, a series of animal models have been developed to evaluate the efficacy of drugs, such as muscular dystrophy protein deficiency mice, double gene knockout Duchenne muscular dystrophy phenotype mice, muscular dystrophy dogs and zebrafish muscular dystrophy models.A variety of therapeutic strategies and dmgs are under development, such as inhibition of nonsense mutations, exon hopping therapy, gene therapy, calcium toxicity relieving drugs and antioxidants.This article reviews the pathogenesis, establishment and evaluation of animal models and the therapeutic drngs of progressive muscular dystrophy.
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Objective To apply the BestSeqTM new generation pathogenic gene detection technology to perform the genetic detec‐tion in the patients with progressive muscular dystrophy (PMD) validating its sensitivity and specificity .Methods The BestSeqTM new generation pathogenic gene detection technology was used to perform the gene sequencing in 2 cases of limb‐girdle muscular dystrophy(LGMD) and 6 cases of Dunchenne′s muscular dystrophy(DMD) ,and the found point mutations were confirmed by the Sanger sequencing method .Results This study completed the genetic detection in above 8 cases ,2 cases of large fragment deletion and 10 cases of micromutations were detected ,in which 8 micromutations were the new mutation discovered ffor the first time and verified by the Sanger sequencing .Conclusion The BestSeqTM new generation pathogenic gene detection technology greatly increa‐ses the detection efficiency by using the high density imbricate type probe and multiple tag technology ,and has the better clinical ap‐plication prospects .
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Objective To explore the value of electroneurophysiological detection in diagnosis of children progressive muscular dystrophy (PMD).Methods The clinical features and laboratory data were analyzed in 32 children with PMD ,and electromyography(EMG) and nerve conduction velocity(NCV) were performed.Parameters studied included spontaneous activity , duration and amplitude of motor unit potential(MUP),pattern of recruitment as strong contracting,sensory conduction velocity(SCV),motor conduction velocity(MCV), distal latency and distal amplitude. Results The abnormality rates of spontaneous potentials was 49.2% and 80.9% in tibialis anterior.The decrease of duration of MUP was 29.7%-62.4%.Amplitude of strong contracting was significantly decreased.There were different from those in normal children(P
ABSTRACT
Many patients who have facioscapulohumeral muscular dystrophy eventually have instability of the scapula due to weakness of the muscles which stabilize the scapula. However, a subset of these patients have sufficient strength in the supraspinatus and deltoid muscle to abduct the arm if the scapula has been stabilized. In four patients who had facioscapulohumeral type of progressive muscular dystrophy, scapulothoracic arthrodesis was done for the treatment of limited unstable shoulder motion, especially flexion and abduction and symptomatic winging of the scapula caused by the loss of scapular stability from July 1994 to Feb.1995. The purpose of this study was to report 5 cases who obtained permanent stability after the scapulothoracic arthrodesis and compare the pre- and postoperative glenohumeral motion. The average preoperative active abduction was 74 degrees, which was improved to l35 degrees at the last follow up in 4 cases except unsatisfied 1 case. The average preoperative active flexion was 66 degrees, which improved to 140 degrees at last follow up. The average preoperative UCLA shoulder score was 18.4 points, which improved to 29.6 points at the last follow up. They were doing well in activity of daily living except unsatisfied one case. The scapulothoracic arthrodesis in the facioscapulohumeral type of the progressive muscular dystrophy is successful in achieving scapular stability so it is valuable for selected patients, as it improves appearance, enhances function, and increases tolerance to exercise.
Subject(s)
Humans , Arm , Arthrodesis , Deltoid Muscle , Follow-Up Studies , Muscles , Muscular Dystrophies , Muscular Dystrophy, Facioscapulohumeral , Scapula , ShoulderABSTRACT
PURPOSE: The authors have experienced thirty three children of progressive muscular dystrophy. 10 children of these(30.3%) were considered as chronic hepatitis because of persistent, unexplained elevated serum aminotransferase values. We performed this study in order to evaluate the characteristics of age distribution, clinical and histologic features in children considered as chronic hepatitis. METHODS: This study was performed on thirty three children of progressive muscular dystrophy from Febrary, 1983 to June, 1992. 10 children of these(30.3%) were considered as chronic hepatitis because of persistent, unexplained elevated serum aminotransferase values. These 10 children were referred to our pediatric gastroenterologic department for studies of liver diseases. Hepatitis viral marker studies were negative in all of them. We performed serum CK concentration, the most useful marker of progressive muscular dystrophy, then confirmation of diagnosis was made by EMG and muscle biopsy in most of them. RESULTS: 1) 10 children (30.3%) were considered as chronic hepatitis. 2) 6 cases of 7 (85.7%) before 3 years of age were considered as chronic hepatitis 3) All of them were absence of clinical symptom and sign on admission but later recognized Gowers?sign and muscle weakness in 2 cases over 10 years of age after detailed physical examination. 4) We performed muscle biopsy in 6 cases of 10 children considered as chronic hepatitis. 5 cases were Duchenne muscular dystrophy and 1 cases was Becker muscular dystrophy. CONCLUSIONS: We concluded that pediatrician need to consider progressive muscular dystrophy when faced with persistent, unexplained serum aminotransferase elevation. In this situations, measurement of serum CK concentration and careful physical examination are the most important and useful means of correctly identifying progressive muscular dystrophy.