[Muscular dystrophies].

Abstract

The diagnosis "muscular dystrophy" without analysis of the underlying gene defect is nowadays obsolete. With the discovery and cloning of cytoskeleton proteins and intermediate filaments in the muscle fiber membrane, the sarcoplasm and the nucleus which are essential for the normal muscle fiber function, the classification of muscular dystrophies has dramatically improved. Muscular dystrophies are a group of clinically and genetically heterogeneous disorders. By means of immunohistochemistry and molecular genetics more than 40 different disease forms can be distinguished, which are characterised by distinct protein defects or defined gene loci and can be related to typical phenotypes. It is noteworthy that muscular dystrophies may be associated with cardiomyopathy with increased risk of sudden cardiac death. Thus, diagnosis and treatment require experienced investigators and clinicians and regular cardiologic follow-ups, preferably in a specialised muscle center.

• Authors: E Neuen-Jacob
• Journal: Der Pathologe (Pathologe) Vol. 30 Issue 5 Pg. 357-64 (Sep 2009) ISSN: 1432-1963 [Electronic] Germany
• Vernacular Title: Muskeldystrophien.
• PMID: 19669147 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• Muscle Proteins

Topics

• Biopsy
• Cardiomyopathies (classification, genetics, pathology)
• Chromosome Aberrations
• Chromosome Mapping
• DNA Mutational Analysis
• Death, Sudden, Cardiac (pathology)
• Genes, Recessive (genetics)
• Genetic Loci (genetics)
• Genotype
• Humans
• Immunohistochemistry
• Muscle Proteins (genetics)
• Muscle, Skeletal (pathology)
• Muscular Dystrophies (classification, genetics, pathology)
• Myocardium (pathology)
• Phenotype