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PubMed1980

No sex difference in mutations rates of Duchenne muscular dystrophy.

Segregation analysis was performed to evaluate possible differences in mutation rates in man. It was based on 514 males with Duchenne type muscular dystrophy (DMD) from five of nineteen hospitals for muscular disease in Japan. The estimated proportion of sporadic cases (new mutations) was 0.29 +/- 0.046, which is in excellent agreement with the expected 0.333 if there is no sex difference in mutation rates. The rate of mutation was estimated to be 6.3 X 10(-5) per generation. The incidence and prevalence rates among males were estimated to be 217 X 10(-6) and 49.9 X 10(-6), respectively.

Humans↗
PubMed1984

Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island.

A retrospective study of Werdnig-Hoffmann disease (spinal muscular atrophy type I) was undertaken on Reunion Island. Nineteen WH cases born between 1969 and 1980 were recorded belonging to thirteen sibships of the European population of the island. Genealogical analysis, going back to the XVIIth century (1642), showed a relationship among the 13 families, which were derived from a common ancestral pair. A founder effect is the most probable explanation for the concentration of Werdnig-Hoffmann disease in the area.

Adolescent↗
PubMed2004

Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.

Nine patients with Duchenne or Becker muscular dystrophy were injected via the radialis muscle with a full-length human dystrophin plasmid, either once with 200 or 600 microg of DNA or twice, 2 weeks apart, with 600 microg of DNA. In the biopsies taken 3 weeks after the initial injection, the vector was detected at the injection site in all patients. Immunohistochemistry and nested reverse transcription-polymerase chain reaction indicated dystrophin expression in six of nine patients. The level of expression was low (up to 6% weak, but complete sarcolemmal dystrophin staining, and up to 26% partial sarcolemmal labeling). No side effects were observed, nor any cellular or humoral anti-dystrophin responses. These results suggest that exogenous dystrophin expression can be obtained in Duchenne/Becker patients after intramuscular transfer of plasmid, without adverse effects, hence paving the way for future developments in gene therapy of hereditary muscular diseases.

Adolescent↗
PubMedDate not supplied

[Relationships between rhizomelic pseudo-polyarthritis and mitochondrial myopathy. 24 cases].

OBJECTIVES: Diagnosis of polymyalgia rheumatica requires the elimination of other inflammatory diseases due to the lack of a specific diagnostic criteria. Since results of muscle biopsy have been considered non-specific, we evaluated the full spectrum of histological, histochemical and biochemical data observed in 24 patients with suspected polymyalgia rheumatica. METHODS: From January 1989, the diagnosis of polymyalgia rheumatica was suspected in 24 patients (4 males, 20 females; mean age 67.8 years, range 50-88) hospitalized in our unit for inflammatory joint and muscle pain with a current duration of 6-30 months. Muscle biopsies were obtained in each case. RESULTS: Based on the histological, histo-enzymatic, ultrastructural and biochemical analyses, 19 patients fulfilled the criteria defining mitochondrial myopathies. After favourable outcome (reduced pain, involution of biochemical inflammatory syndrome) following prednisone therapy (0.5 mg/kg/day) a second muscle biopsy revealed identical abnormalities. CONCLUSION: These muscular diseases have been described mainly as hereditary encephalo-myopathies, but in our series the mitochondrial myopathy may have preceded the polymyalgia rheumatica or been acquired, aggravating the inflammatory process. Muscle biopsy might act as a referee for diagnosis.

Aged↗
PubMed1996

[Myasthenia and pregnancy. Two case reports].

OBJECTIVE: Assess obstetrical care in rare cases of pregnant women with myasthenia. METHOD: Two personal cases led to a brief recall of the disease process and the literature and an assessment of proposed optimal care. RESULTS: Both pregnancies were carried to term without aggravation of the myasthenia. According to the data in the literature, pregnancy has a variable effect on myasthenia (1/3 stability, 1/3 improvement, 1/3 aggravation). The risk of decompensation during expulsion is great and the patient's efforts should be limited, although cesarian section is not required (excepting classical surgical indications). Peridural anaesthesia is not required (excepting classical surgical indications). Peridural anaesthesia is recommended because it reduces patient fatigue and facilitates instrumental extraction. Nursing is authorized except in case of severe episodes with a major rise in antibody levels. Pre-eclampsia was reported in only 5 cases: both maternal and fetal risk is high in such cases requiring intensive care. Fetal risks include rare neuro-muscular disease in which prognosis is poor and in 15 to 20% of the cases, neonatal myasthenia. CONCLUSION: Myasthenia is an autoimmune disease rarely occurring in young women of childbearing age. Care for pregnant women with myasthenia requires close collaboration between the different specialists.

Adult↗
PubMed1998

Creatine supplementation in health and disease. Effects of chronic creatine ingestion in vivo: down-regulation of the expression of creatine transporter isoforms in skeletal muscle.

Interest in creatine (Cr) as a nutritional supplement and ergogenic aid for athletes has surged over recent years. After cellular uptake, Cr is phosphorylated to phosphocreatine (PCr) by the creatine kinase (CK) reaction using ATP. At subcellular sites with high energy requirements, e.g. at the myofibrillar apparatus during muscle contraction, CK catalyzes the transphosphorylation of PCr to ADP to regenerate ATP, thus preventing a depletion of ATP levels. PCr is thus available as an immediate energy source, serving not only as an energy buffer but also as an energy transport vehicle. Ingestion of creatine increases intramuscular Cr, as well as PCr concentrations, and leads to exercise enhancement, especially in sprint performance. Additional benefits of Cr supplementation have also been noticed for high-intensity long-endurance tasks, e.g. shortening of recovery periods after physical exercise. The present article summarizes recent findings on the influence of Cr supplementation on energy metabolism, and introduces the Cr transporter protein (CreaT), responsible for uptake of Cr into cells, as one of the key-players for the multi-faceted regulation of cellular Cr homeostasis. Furthermore, it is suggested that patients with disturbances in Cr metabolism or with different neuro-muscular diseases may benefit from Cr supplementation as an adjuvant therapy to relieve or delay the onset of symptoms. Although it is still unclear how Cr biosynthesis and transport are regulated in health and disease, so far there are no reports of harmful side effects of Cr loading in humans. However, in this study, we report that chronic Cr supplementation in rats down-regulates in vivo the expression of the CreaT. In addition, we describe the presence of CreaT isoforms most likely generated by alternative splicing.

Amino Acid Sequence↗
PubMed1989

[Muscle fiber conduction velocity and frequency parameters of surface EMG during fatigue of the human masseter muscle. 1. Muscle fiber conduction velocity].

The muscle fiber conduction velocity is used as an indication of a localized muscular fatigue or some muscular diseases. The purpose of this study was non-invasively to estimate the conduction velocity of the human masseter muscle using surface electrode arrays. Informed consent was obtained from a group of 8 healthy subjects (24-27 yr) without functional disturbances of the jaws and with natural dentitions. Each subject was asked to perform a brief isometric contraction at 10, 20, 30, 40 and 50% of the maximum EMG amplitude and an endurance of 30 and 50% MVC in the intercuspal position. The myoelectric potential was derived from an adjacent pair of electrode wires and the velocity was estimated by the electrode distance divided by the time delay between two myoelectric signals. The time delay was calculated by the cross-correlation technique. The results obtained were as follows: 1. The muscle fiber conduction velocity slightly increased with contraction force. 2. The exponential reduction in velocity was shown during fatiguing contraction of 50% MVC. 3. The muscle fiber conduction velocity decreased with the time after fatiguing contraction. 4. It was suggested that the conduction velocity of the muscle membrane discharge was an important index of muscular fatigue.

Adult↗
PubMed1984

Proton nuclear magnetic resonance of human muscle extracts.

High resolution proton nuclear magnetic resonance (NMR) spectra of normal and diseased human muscle extracts were recorded at 470 MHz. Resonances from lactic acid, creatine, glucose, ribose, purine and pyrimidine bases were identified. The longitudinal relaxation times of these resonances were determined to allow quantitation of muscle metabolites. With aid of a standardized reference capillary, inserted into the NMR tube containing the muscle extracts, the lactic acid and total creatine content of the extracts was determined. After 5 h of incubation at 37 degrees C, normal muscles contained on average 103 mumol lactic acid and 36 mumol creatine/173 mg of noncollagenous protein, equivalent to 1.0 g of fresh muscle. The lactic acid and creatine contents decreased slightly in scoliosis and idiopathic scoliosis and they decreased significantly in cerebral palsy. In an extract of a patient whose illness was diagnosed as 'scoliosis' no creatine was present, and in an extract of a patient with unknown diagnosis the creatine content was reduced to 2 mumol/173 mg of noncollagenous protein. The short time (1.7 sec to 6.5 min) and the small amount of tissue (300 mg) needed for an analysis add to the potential of proton NMR as a new technique for the characterization of muscular diseases.

Cerebral Palsy↗
PubMed1999

Identification of survival motor neuron as a transcriptional activator-binding protein.

Spinal muscular atrophy (SMA) is an inherited neuro-muscular disease characterized by specific degeneration of spinal cord anterior horn cells and subsequent muscle atrophy. Survival motor neuron ( SMN ), located on chromosome 5q13, is the SMA-determining gene. In the nucleus, SMN is present in large foci called gems, the function of which is not yet known, while cytoplasmic SMN has been implicated in snRNP biogenesis. In SMA patients, SMN protein levels and the number of gems generally correlate with disease severity, suggesting a critical nuclear function for SMN. In a screen for proteins associated with the nuclear transcription activator 'E2' of papillomavirus, two independent SMN cDNAs were isolated. The E2 and SMN proteins were found to associate specifically in vitro and in vivo. Expression of SMN enhanced E2-dependent transcriptional activation, and patient-derived SMN missense mutations reduced E2 gene expression. Our results demonstrate that SMN interacts with a nuclear transcription factor and imply that SMN may serve a role in regulating gene expression. These observations suggest that SMA may in part result from abnormal gene expression and that E2 may influence viral gene expression through SMN interaction.

Cyclic AMP Response Element-Binding Protein↗
PubMed2005

Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach.

The limb-girdle muscle dystrophy (LGMD) represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A group of 56 patients, 32 males and 24 females, with suggestive LGMD diagnosis were submitted to clinical evaluation, serum muscle enzymes, electromyography, muscle biopsy, and the immunoidentification (ID) of sarcoglycans (SG) alpha, beta, gamma and delta, dysferlin and western blot for calpain-3. All the patients had normal ID for dystrophin (rod domain, carboxyl and amine terminal). The alpha-SG was normal in 42 patients, beta-SG in 28, beta-SG in 45, deltaSG in 32, dysferlin in 37 and calpain-3 in 9. There was a reduction in the alpha-SG in 7 patients, beta-SG in 4, gamma-SG in 2, and delta-SG in 8. There was deficiency of alpha-SG in 7 patients, beta-SG in 6, gamma-SG in 9, delta-SG in 5, dysferlin in 8, and calpain-3 in 5. The patients were grouped according the ID as sarcoglycans deficiency 18 cases, dysferlin deficiency 8 cases and calpain-3 deficiency 5 cases. Only the sarcoglycans deficiency group showed calf hypertrophy. The dysferlin deficiency group was more frequent in females and the onset was later than sarcoglycan and calpain-3 deficiency groups. The calpain-3 deficiency group occurred only in males and showed an earlier onset and weaker muscular strength.

Adolescent↗
PubMed2003

Amyloid beta(1-42) peptide alters the gating of human and mouse alpha-bungarotoxin-sensitive nicotinic receptors.

The beta-amyloid(1-42) peptide (Abeta(1-42)), a major constituent of the Alzheimer's disease amyloid plaque, specifically binds to the neuronal alpha-bungarotoxin (alpha-BuTx)-sensitive alpha7 nicotinic acetylcholine receptor (alpha7 nAChR). Accordingly, Abeta1-42 interferes with the function of alpha7 nAChRs in chick and rodent neurons. To gain insights into the human disease, we studied the action of Abeta(1-42) on human alpha7 nAChRs expressed in Xenopus oocytes. In voltage-clamped oocytes expressing the wild-type receptor, Abeta(1-42) blocked ACh-evoked currents. The block was non-competitive, required over 100 s to develop and was partially reversible. In oocytes expressing the mutant L248T receptor, Abeta(1-42) activated methyllycaconitine-sensitive currents in a dose-dependent manner. Peptide-evoked unitary events, recorded in outside-out patches, showed single-channel conductances and open duration comparable to ACh-evoked events. Abeta(1-42) had no effect on the currents evoked by glutamate, GABA or glycine in oocytes expressing human or mouse receptors for these transmitters. Muscle nAChRs are also alpha-BuTx-sensitive and we therefore investigated whether they respond to Abeta(1-42). In human kidney BOSC 23 cells expressing the fetal or adult mouse muscle nAChRs, Abeta(1-42) blocked ACh-evoked whole-cell currents, accelerating their decay. Outside-out single-channel recordings showed that the block was due to a reduced channel open probability and enhanced block upon ACh application. We also report that the inverse peptide Abeta(42-1), but not Abeta(40-1), partially mimicked the effects of the physiological Abeta(1-42) peptide. Possible implications for degenerative neuronal and muscular diseases are discussed.

Amyloid beta-Peptides↗
PubMedDate not supplied

Principle and design of a mobile arm support for people with muscular weakness.

This article describes the development of a mobile arm support for people with muscular diseases. The arm support is spring-balanced, with special attention on reduction of operating effort (high balancing quality and low friction), functionality (large range of motion), and aesthetics (inconspicuous design). The spring settings can be adjusted for wearing heavier clothing or picking up an object, a function that can also be used for moving up or down. The device levels itself automatically to compensate for uneven floors, a function that can be overruled to assist forward/backward motion of the arm. Thus, the balancer can compensate for the weight of the arm and be adjusted to generate force to a limited (safe) extent. The principle and design of the mechanism are presented and preliminary field trial results are given. Two users report on 6 months of continuous use of the arm support in their home and social environments.

Arm↗
PubMedDate not supplied

[The physiopathology and medical treatment of acute traumatic occlusion of the popliteal artery. The point of view of the anesthesiologist-resuscitator].

The acute occlusion of the popliteal artery involves: 1. A regional disease: muscular ischaemia with an increase of capillary permeability and oedema. The recovery of the circulation brings with it the formation of free radicals. 2. Sometimes, a general and metabolic illness complicates the muscular ischaemia. It associates to varying degrees: hypovolemic shock, metabolic troubles, acute renal failure, disseminated intravascular coagulation, infection. It can compromise the vital prognosis. The reanimation which completes the surgical treatment includes two stages: 1. The prehospital stage when the first imperative is to commit the patient to the vascular surgeon's care as soon as possible and in the best hemodynamic conditions. 2. The hospital stage when the therapeutic objectives are represented by: a) the treatment of hypovolemia; b) the curing of acute renal failure (bicarbonates 2 mmol.kg-1, hypertonic mannitol 1 g.kg-1; c) fight against infection; d) Heparin: 1 to 2 mg.kg-1 (if there is no counterindication); e) hyperbaric oxygen treatment in some situations. Despite the progress of reanimation, the initially intended amputation is subject to discussion in the following circumstances: crushing which in fact accomplishes an amputation, prolonged and complete ischemia lasting more than 10 to 12 hours, severe I.V.D.C., associated serious lesions (cranial traumatism, pelvis crushing).

Acute Disease↗
PubMed2005

Targeting the respiratory muscles of fetal sheep for prenatal gene therapy for Duchenne muscular dystrophy.

OBJECTIVE: Duchenne muscular dystrophy (DMD) is a lethal degenerative muscular disease. Fetal gene therapy may correct the primary genetic defect. Our aim was to achieve expression of a reporter gene in the respiratory muscles of early gestation fetal sheep. STUDY DESIGN: An adenovirus vector containing the beta-galactosidase reporter gene (AdRSVbetagal) was injected into the thoracic musculature (n = 3) and pleural cavity (n = 6) of fetal sheep (61-67 days' gestation) under ultrasound guidance. Tissues were harvested after 48 hours and site and intensity of beta-galactosidase expression were assessed. RESULTS: Limited transgene expression observed after a single injection was improved by multiple injections, but remained localized. Ultrasound-guided creation of a hydrothorax led to an increase in the intensity of beta-galactosidase expression (ELISA). X-gal staining and immunohistochemistry showed that vector spread was confined to the innermost intercostal musculature. CONCLUSION: Ultrasound-guided injection can deliver gene therapy vectors to the fetal pleural cavity and achieve transduction of the respiratory muscles.

Adenoviridae↗
PubMed1997

[Molecular genetics and problems found in genetic diagnosis of Duchenne Becker muscular dystrophy].

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are the most common inherited muscular diseases and caused by mutations in the dystrophin gene. Half to two-thirds of DMD and BMD patients carry deletions (usually of several kilobases of genomic DNA). The clinical progression in DMD and BMD patients with deletions can be predicted in 92% of cases based on whether the deletion maintains or disrupts the translational reading frame (frame-shift hypothesis). However, some exceptional cases have been reported; BMD cases whose dystrophin gene exons 3 to 7 were deleted (out-of-frame), more severe case whose dystrophin gene deletion maintains reading frame but includes N-terminal region, and so on. Splicing mutation is one kind of mutations of dystrophin gene, and usually induced by small mutation of exon-intron boundary sequence. However, intraexonal small mutation also induces exon skipping, due to disruption of exon recognition sequence, which is intraexonal sequence and necessary for splicing of the upstream intron. For molecular diagnosis of DMD/BMD it is important to analyze not only in genomic DNA level, but also in mRNA, protein, and clinical levels. And the relationship between molecular abnormality and clinical phenotype should be examined, especially when extramuscular symptoms (heart failure and mental retardation) are prominent.

Alternative Splicing↗
PubMed2003

Bone mineral density and bone metabolism in Duchenne muscular dystrophy.

Very few studies on bone mineral density and bone metabolism in Duchenne muscular dystrophy (DMD) have been reported. DMD is a severe, progressive muscular disease resulting in death at a young age. No specific therapies are available, but corticosteroids induce improvement and slower progression of the disease. However, long-term steroid therapy is a serious risk factor for osteoporosis. This study was aimed at evaluating bone mineral density and calciotropic hormones in a group of children affected by DMD, with or without steroid therapy. Bone mineral density was measured by DXA scan on lumbar spine and total body. Evaluation of calcium, phosphorus, bone turnover markers and calciotropic hormones was performed. Thirty-two children affected by DMD were studied: twenty-two on long-term prednisone therapy, ten not taking corticosteroids. Bone mineral density was lower than normal for age in all patients, and even lower in the group of steroid-treated children. Trunk and lower limb bone mineral densities were more reduced than upper limb mineral density, especially in the steroid-treated subjects. A marked reduction in spine bone mineral density, hypocalciuria, low 25-hydroxyvitamin D levels, and increased bone turnover markers were observed, and even these especially in the steroid-treated group. In conclusion, decreased bone mineral density and derangement of calcium metabolism were present in DMD patients, and were worsening during corticosteroid therapy. It is thus recommended that bone and mineral metabolism be carefully evaluated in patients with DMD, so that appropriate measures could be taken, especially now that chronic corticosteroid therapy is frequently given.

25-Hydroxyvitamin D 2↗
PubMed1998

[Genetic diagnosis of Duchenne/Becker muscular dystrophy; clinical application and problems].

Duchenne/Becker muscular dystrophies (DMD/BMD) are the most common inherited muscular disease and caused by mutations in the dystrophin gene. A half to two-thirds of DMD and BMD patients carry deletions (usually of several kilobases of genomic DNA). The clinical progression in DMD and BMD patients with deletions can be predicted in 92% of cases based on whether the deletion maintains or disrupts the translational reading frame (frame-shift hypothesis). However, some exceptional cases have been reported in which some posttranscriptional modifications were suggested, such as alternative splicing and reinitiation of translation. Splicing mutation is one kind of mutations of dystrophin gene, and usually induced by a small mutation of exon-intron boundary sequence. However, intraexonal small mutation also induces exon skipping, due to disruption of an exon recognition sequence, which is an intraexonal sequence and necessary for splicing of the upstream intron. Carrier diagnosis is one of the important clinical application of genetic diagnosis. In the case of DMD/BMD with deletions of the dystrophin gene, carrier diagnosis is difficult because of the existence of normal X chromosome. In these cases a linkage analysis is useful, and in some cases non-carriers can be directly diagnosed on the basis of microsattelite polymorphism detected in deleted region of patient. For the molecular diagnosis of DMD/BMD it is important to analyze not only at the genomic DNA level, but also at the mRNA, protein, and clinical levels. And the relationship between the molecular abnormality and clinical phenotype should be examined, especially extramuscular symptoms such as heart failure and mental retardation.

DNA Mutational Analysis↗