Muscle pathology and clinical features of the sarcolemmopathies

We report the clinical features and the muscle pathology in 2 patients with congenital muscular dystrophy (CMD) secondary to merosin deficiency and in 2 patients with sarcoglycan (adhalin) deficiency. Electron microscopic examination revealed sarcolemmal defects in non-necrotic muscle fibers in all...

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Bibliographic Details
Published in:Pediatric neurology 1997, Vol.16 (1), p.79-82
Main Authors: Fadic, Ricardo, Waclawik, Andrew J., Lewandoski, Paul J., Lotz, Barend P.
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Child
Cytoskeletal Proteins - deficiency
Cytoskeletal Proteins - genetics
Diagnosis, Differential
Diseases of striated muscles. Neuromuscular diseases
Female
Humans
Infant
Laminin - deficiency
Laminin - genetics
Male
Medical sciences
Membrane Glycoproteins - deficiency
Membrane Glycoproteins - genetics
Microscopy, Electron
Muscle, Skeletal - pathology
Muscular Dystrophies - diagnosis
Muscular Dystrophies - genetics
Muscular Dystrophies - pathology
Neurologic Examination
Neurology
Sarcoglycans
Sarcolemma - pathology
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Summary:We report the clinical features and the muscle pathology in 2 patients with congenital muscular dystrophy (CMD) secondary to merosin deficiency and in 2 patients with sarcoglycan (adhalin) deficiency. Electron microscopic examination revealed sarcolemmal defects in non-necrotic muscle fibers in all cases. These pathological findings are indistinguishable from those of Duchenne/Becker muscular dystrophy. We suggest that the similarities in histological findings reflect a common pathogenetic mechanism, i.e., a structural weakening of the sarcolemma with an increased susceptibility to rupture under mechanical stress. We propose the term sarcolemmopathy as an all-encompassing rubric for these disorders.
ISSN:0887-8994
1873-5150
DOI:10.1016/S0887-8994(96)00265-2