Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Synonyms: Congenital muscular dystrophy, Davignon-Chauveau type
A rare congenital muscular dystrophy characterized by neonatal hypotonia life-threatening respiratory failure and feeding difficulties furthermore by delayed motor development severe muscle weakness predominantly affecting axial muscles (leading to poor head control rigid cervical spine and severe scoliosis) generalized joint laxity with no or mild contractures as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability rounded fibers with mild increase of endomysial connective tissue and adipose replacement abundant minicore lesions increase of centrally located nuclei angular fibers and cap lesions.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome?
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