PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “PROGRESSIVE MUSCULAR DYSTROPHY”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 235 records · Page 13Linked to original sources
PubMed1984

[Catecholamine concentration in the blood and excretion in the urine in different forms of progressive muscular dystrophy].

A combined study of the blood content of catecholamines (C) and of their urinary excretion in 42 patients with primary forms of myodystrophies and denervated amyotrophies allowed adequate identification of the features of the sympathoadrenal system functioning under conditions of the myodystrophic process. The study revealed changes in C levels. The primary forms of progressive muscular dystrophies (PMD) were associated with increased blood levels of adrenalin (A) while denervated amyotrophies were related to elevated concentrations of noradrenalin (NA). A statistically significant increase in A excretion with urine was found in Duchenne's PMD and in Kugelberg-Welander's spinal amyotrophy, i. e. the disorders with the most malignant course among all the groups studied. NA concentrations were lowered in all forms of PMD with the exception of Charcot-Marie's neural amyotrophy.

Adolescent↗
PubMed1998

Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice.

Limb-girdle muscular dystrophy type 2D (LGMD 2D) is an autosomal recessive disorder caused by mutations in the alpha-sarcoglycan gene. To determine how alpha-sarcoglycan deficiency leads to muscle fiber degeneration, we generated and analyzed alpha-sarcoglycan- deficient mice. Sgca-null mice developed progressive muscular dystrophy and, in contrast to other animal models for muscular dystrophy, showed ongoing muscle necrosis with age, a hallmark of the human disease. Sgca-null mice also revealed loss of sarcolemmal integrity, elevated serum levels of muscle enzymes, increased muscle masses, and changes in the generation of absolute force. Molecular analysis of Sgca-null mice demonstrated that the absence of alpha-sarcoglycan resulted in the complete loss of the sarcoglycan complex, sarcospan, and a disruption of alpha-dystroglycan association with membranes. In contrast, no change in the expression of epsilon-sarcoglycan (alpha-sarcoglycan homologue) was observed. Recombinant alpha-sarcoglycan adenovirus injection into Sgca-deficient muscles restored the sarcoglycan complex and sarcospan to the membrane. We propose that the sarcoglycan-sarcospan complex is requisite for stable association of alpha-dystroglycan with the sarcolemma. The Sgca-deficient mice will be a valuable model for elucidating the pathogenesis of sarcoglycan deficient limb-girdle muscular dystrophies and for the development of therapeutic strategies for this disease.

Amino Acid Sequence↗
PubMedDate not supplied

[Epidemiology of progressive muscular dystrophy in selected regions of Poland].

On the basis of the cases registered in the Outpatient Clinic for Muscular Diseases, Medical Academy in Warsaw including patients with progressive muscular dystrophy, and after an analysis of follow-up data the epidemiological indices and mutation indices were estimated in the population of Warsaw, Province of Warsaw and Province of Radom for the years 1960-1976. The calculated indices of incidence and prevalence of dystrophy and mutation were at the upper range of values reported in world literature. They were, however higher than those estimated in previous years in the same regions by Prot. The calculated index of natural abortions in mothers of patients with Duchenne's dystrophy was slightly higher than in the control group of women. Follow-up investigations show that the genetic counselling in this disease was insufficient in that time period.

Adolescent↗
PubMed1978

Intrafamilial variability of X-linked progressive muscular dystrophy. Mild and acute form of X-linked muscular dystrophy in the same family.

Four of five afflicted boys in the family K. suffer from the Becker type of dystrophy and one from a more severe type. All affected boys and their mothers, who are three sisters, have undergone clinical, electromyographic, electrocardiographic and biochemical examination; muscle biopsy was performed in some boys. This family is a rare example of the intrafamilial variability of X-linked progressive muscular dystrophy. The possible explanation of the variability observed is discussed.

Adolescent↗
PubMed1994

[Monoclonal antibodies to dystrophin in biopsy diagnosis of Duchenne and Becker progressive muscular dystrophies].

Immunohistochemical method detecting dystrophin in muscle biopsies was introduced and applied in 121 cases with a large scale of neuromuscular diseases. A monoclonal antibody NCL-DYS 2 (Novocastra) was used for the detection of C-terminal domain of dystrophin. Normal, i.e. sarcolemmal, localization of dystrophin was found in controls, in inactivity atrophy, neurogenic lesions and congenital myopathies. A similar situation except regenerating fibres was found in myositis and progressive muscular dystrophies different from Duchenne (DMD) and Becker (BMD) types, DMD cases showed a complete or nearly complete loss of sarcolemmal reaction product, whereas a partial loss of dystrophin in membrane was found in BMD cases as well as in transmitter females. Fibres splitting during neurogenic and myogenic lesions had dystrophin in newly produced sarcolemmal parts. Sarcolemmal immunoreactivity starting as early as in the 10th-12th week of gestation was found in human fetuses.

Antibodies, Monoclonal↗
PubMed1983

[Possibility of prenatal diagnosis of progressive muscular dystrophy: evaluation of creatine kinase activity in serum and the capping of lymphocytes].

Duchenne muscular dystrophy is a severe inherited disease. The pathogenesis is unknown. Duchenne dystrophy is characterized by a large number of membrane abnormalities, which are manifested by a leakage of muscle enzymes, such as creatine kinase (CK), and a reduction in cap formation in lymphocytes. In the present study serum CK and percentage lymphocyte capping in 8 patients with progressive muscular dystrophy, 6 with different myopathies and normal controls are investigated. Reduced antibody-induced redistribution of membrane antigens of B and T lymphocytes and high serum CK activity is found in boys with Duchenne dystrophy if compared with normal subjects and no correlation exists between the two parameters. Our data indicate that the determination of fetal serum CK activity associated with fetal lymphocyte capping may have diagnostic value in antenatal detection of Duchenne dystrophy.

Adolescent↗
PubMed1992

[Alteration of atrial natriuretic peptide in progressive muscular dystrophy with congestive heart failure].

We measured plasma levels of atrial natriuretic peptide (ANP) in 9 patients of Duchenne muscular dystrophy (DMD) and 3 patients of Becker muscular dystrophy with congestive heart failure (CHF). Administration of digitalis, catecholamine and angiotensin converting enzyme inhibitor resulted in decrease of ANP levels as well as improvement of clinical symptoms of CHF and cardiomegaly. Four DMD patients whose ANP levels were more than 200 pg/ml after the treatment of CHF showed poor prognosis. These results suggest that ANP is a useful marker for the treatment of CHF in progressive muscular dystrophy.

Adolescent↗
PubMed1979

[Health resort treatment of children with progressive muscular dystrophy].

The results of a complex treatment at health resorts of 126 children with Duchenne myopathy and 84 children with spinal amyotrophies at the age of 5-15 years are given. The complexes included carbon-dioxide sulfurated hydrogen baths, mud application (with different localization depending on a form of the disease), fresh baths, oxygenotherapy and therapeutic physical training. The authors revealed good tolerance to procedures and the positive dynamics of the main clinical manifestations of the disease, confirmed by the electrophysiological and biochemical studies. As a result of the treatment it was possible to achieve progressiveness of the disease in all patients at different periods (from 1 month to 1 year). The authors give recommendations for the use of treatment at health resorts as a necessary link in the general chain of rehabilitative measures for children with various forms of progressive muscular dystrophies.

Adolescent↗
PubMed1980

Calcium-dependent potassium transport in progressive muscular dystrophy.

The rates of calcium-dependent potassium efflux of red blood cells in 9 Duchenne muscular dystrophic patients were measured. A significant decrease was revealed in the Ca-provoked K transport when compared with the rates observed in healthy controls. Results are discussed on the basis of the theory of generalized membrane defect in progressive muscular dystrophies.

Adolescent↗
PubMed1989

Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.

An autosomal recessive (AR) form of muscular dystrophy that clinically resembles Duchenne/Becker types exists, but its frequency is unknown. We have studied three unrelated affected brother/sister pairs and their families for deletions and polymorphisms with the entire dystrophin cDNA and other DNA probes from the Xp21 region to test for involvement of the DMD locus. In family 1 a large intragenic deletion was found in the affected male. The affected sister was heterozygous for this deletion, but the mother was not, implying germinal mosaicism. In family 2, no deletion was detected in the affected male. RFLP analysis revealed that the affected male and an unaffected sister shared a complete Xp21 haplotype while the affected sister had inherited a recombinant Xp21 region resulting from a crossover between pERT 87-15 and J-Bir. Only the 5' region of the dystrophin gene was shared with the affected boy. X-inactivation studies using a polymorphism in the 5'-flanking region of the HPRT gene, in conjunction with methylation-sensitive enzymes, revealed random X inactivation in the affected girl's leukocytes. In a muscle biopsy from the affected male, the dystrophin protein was present in normal amount and size. Family 3 was informative for four RFLPs detected with dystrophin cDNA probes which span the entire gene. The affected male was found to share the complete dystrophin RFLP haplotype with his unaffected brother, while his affected sister had inherited the other maternal haplotype. It is concluded that the clinical presentation of early-onset, progressive muscular dystrophy in a male and in his karyotypically normal sister can be caused by mutations at different loci. While in family 1 a deletion in the dystrophin gene is responsible, this gene does not appear to be involved in families 2 and 3.

Child↗
PubMed1984

Multiple myeloma occurring in association with a preexisting neuromuscular disease (progressive muscular dystrophy). A chance occurrence or a nosological entity?

This paper describes 3 patients with progressive limb-girdle muscular dystrophy who many years after this disorder was diagnosed were found to have a monoclonal gammopathy. The authors examine whether this was a fortuitous occurrence together of two rare disorders or whether they might be causally related. So far no other similar cases have been reported in the literature.

Action Potentials↗