Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies

Exercise intolerance associated with myalgias, muscle cramps or myoglobinuria may be associated with a dystrophinopathy. A search for abnormal dystrophin expression (using immunohistochemistry, immunoblot and DNA analysis) was carried out in a series of 15 patients. They were selected because they p...

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Bibliographic Details
Published in:	Acta neuropathologica Vol. 94; no. 1; pp. 48 - 53
Main Authors:	FIGARELLA-BRANGER, D, BAETA MACHADO, A. M, PUTZU, G. A, MALZAC, P, VOELCKEL, M. A, PELLISSIER, J. F
Format:	Journal Article
Language:	English
Published:	Berlin Springer 01-07-1997 Springer Nature B.V
Subjects:	Adolescent Adult Biological and medical sciences Deoxyribonucleic acid Diseases of striated muscles. Neuromuscular diseases DNA Dystrophin Dystrophin - chemistry Dystrophin - immunology Etiology Exercise Exercise Tolerance Female Gene deletion Genetic counseling Glycogen Humans Immunohistochemistry Intolerance Lipid metabolism Male Medical sciences Middle Aged Mitochondria Muscle Cramp - metabolism Muscle Cramp - physiopathology Muscle, Skeletal - metabolism Muscle, Skeletal - pathology Muscular Dystrophies - metabolism Muscular Dystrophies - physiopathology Myoglobinuria Myoglobinuria - metabolism Myoglobinuria - physiopathology Neurology Phenotypes Polymerase chain reaction Rhabdomyolysis Rhabdomyolysis - metabolism Rhabdomyolysis - pathology Rhabdomyolysis - physiopathology Physical exercise Human Immunohistochemistry Neuromuscular diseases Nervous system diseases Antibody Pathogenesis Rhabdomyolysis Muscular dystrophy Genetic disease Pathology Intolerance Striated muscle disease Immunological investigation Dystrophin
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Summary:	Exercise intolerance associated with myalgias, muscle cramps or myoglobinuria may be associated with a dystrophinopathy. A search for abnormal dystrophin expression (using immunohistochemistry, immunoblot and DNA analysis) was carried out in a series of 15 patients. They were selected because they presented exercise intolerance, negative biochemical tests (lipid, glycogen and mitochondrial metabolism) and abnormal immunohistochemistry with at least one anti-dystrophin antibody (anti-Dys 1, rod domain; anti-Dys 2, C terminus; anti-Dys 3, N terminus). Lack of anti-Dys 1 immunoreactivity was seen in three patients and abnormal immunoreactivity with all three anti-dystrophin antibodies in two. Immunoblot confirmed the dystrophinopathy in these five patients only, and multiplex polymerase chain reaction DNA analysis revealed a deletion in the dystrophin gene in two of these patients, affecting the proximal part of the rod domain in one and the distal part of this domain in the other. The clinical, biological and histopathological features of the five patients reported here, together with the previous cases reported in the literature, are described and reveal that exercise intolerance associated with dystrophinopathy displays characteristic clinical, biological and immunohistochemical features and defines a new dystrophinopathy phenotype. The absence of staining in the rod domain provides a secure diagnosis of this syndrome. Dystrophinopathy is one etiology of idiopathic myoglobinuria, requiring genetic counseling.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0001-6322 1432-0533
DOI:	10.1007/s004010050671