PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “MUSCULAR DISEASES”

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 199 records · Page 11Linked to original sources
PubMed2003

[Molecular genetic investigations in muscular diseases].

The last couple of years have witnessed a rapid development in discoveries of the genetic background in myopathies. It is therefore timely to review the impact they have on clinical work. The recognition of a myopathy remains a clinical activity, and biopsy retains a major role. Molecular genetic investigation can be contemplated early in cases with certain typical clinical presentation. In others, the correct indication to such an investigation can only be made based on findings at biopsy. The information of precise mutation can be used for genetic counselling of the family. Knowledge of genes, whose mutations are sufficient to cause certain myopathies, have provided a great amount of knowledge about pathophysiological mechanisms involved. Some are arguably rare diseases, however, this knowledge also helps understand more frequent myopathies, as it has been the case in neurodegenerative disorders.

Adult↗
PubMed1987

Animal models utilized in research on muscular diseases in Japan.

A comparative study of human and animal muscular dystrophies revealed a number of differences in clinical symptoms and muscle pathology. In chicken muscular dystrophy (line 413), the white muscle was preferentially involved with striking vacuole formation in the sarcoplasm. Despite massive muscle fiber necrosis with phagocytosis which occurred in large groups in both hamsters (BIO 14.6) and mdx mouse dystrophies, the regenerating process compensated for the muscle fiber degeneration and resulted in no apparent clinical symptoms. Although the overall muscle pathology in dy mice (C57BL6J/dy+/dy+) including variation in fiber size, active fiber necrosis, interstitial fibrosis and progressive fatal course were very similar to those in human muscular dystrophy, dysmyelination at the anterior spinal roots in the mouse suggested the coexistence of neuropathic processes, which was probably involved in inducing muscle atrophy and weakness. A Japanese quail with slowly progressive muscle weakness was assumed to be a very important animal model for the adult onset type of human type II glycogenosis because there were very close morphological and biochemical similarities between the two species.

Animals↗
PubMed1996

[Molecular pathogenesis of muscular diseases].

Recent advances in the field of molecular myology have provided significant insight into the pathological mechanisms underlying a variety of neuromuscular disorders. Genetic abnormalities can now be linked to primary and secondary pathophysiological changes in muscle fibres which compromise structural, metabolic, regulatory or contractile mechanisms. Ion channel myopathies such as paramyotonia congenita, hyper- and hypokalaemic periodic paralysis, myotonia congenita, episodic ataxia and malignant hyperthermia were established as linked to mutations in genes encoding the sodium channel, dihydropyridine receptor, chloride channel, potassium channel and the ryanodine receptor calcium release channel, respectively. Metabolic disorders affecting skeletal muscle were found to be due to deficiencies in a variety of enzymes. Identification of defects in components belonging to the gigantic dystrophin-glycoprotein complex led to the discovery of the molecular pathogenesis of Duchenne muscular dystrophy and related disorders. Based on these molecular findings, it is now feasible to design and evaluate new techniques such as gene and myoblast transfer therapy in order to replace defective components in diseased muscle fibres.

Animals↗
PubMed2003

[How should a muscular disease be studied?].

Muscle diseases are an expanding field, mainly due to the progress in genetics and biochemistry. Evaluation starts with a thorough history of the patient's symptoms and signs. The leading clinical manifestations are weakness, atrophy, myalgia, fatigue, more rarely myotonia and in the child hypotonia or walking difficulty. A detailed family history might give clues to an underlying genetic etiology. Diagnostic workup begins with the measurement of serum creatine kinase. Electroneuromyography is an important investigation procedure which includes motor and sensory nerve conduction studies and concentric needle electromyography. Muscle biopsy is performed in all patients with clinical evidence of myopathy. A fine-needle technique is generally used, more often than a surgical biopsy. Molecular analysis of candidate genes is becoming a major diagnostic tool in many muscle disorders. Muscle imaging, in particular MR, provides diagnostic and follow-up information, especially in dystrophic, metabolic and inflammatory myopathies. Exercise testing can be useful in some metabolic myopathies. There is no standard protocol for the choice and course of investigations which must always be based on a detailed clinical evaluation. It is important to establish a precise diagnosis in order to inform the patient about the nature and the evolution of the disease, the therapeutic options and to propose, when indicated, genetic counseling.

Adult↗