[Congenital muscular dystrophy phenotypes].

Authors

Andrés Nascimento, Carlos Ortez, Jessica Expósito, Laura Carrera, Silvia Cerezo, Stephanie Lotz-Esquivel, Irene Zschaeck, Agustín Lujan, Chiara Gatnau, Berta Estévez-Arias, Eduardo Tizzano, Daniel Natera De Benito

Published in

Medicina. Volume 86 Suppl 3. Pages 7-13.

Abstract

Congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscle weakness and dystrophic changes on muscle biopsy, typically presenting at birth or in early infancy. Although classically defined by hypotonia and delayed motor development, CMDs are now recognized as part of a broader phenotypic continuum, with overlap with limb-girdle muscular dystrophies and other inherited myopathies. CMDs are progressive conditions, frequently complicated by joint contractures, spinal deformities, respiratory insufficiency, and, in selected genotypes, cardiac involvement. While no curative treatments are currently available, advances in molecular diagnosis have significantly improved genotype-phenotype correlations, clinical surveillance, and multidisciplinary management. Accurate genetic diagnosis is essential to guide respiratory and cardiac monitoring and to facilitate access to emerging therapies and clinical trials. CMDs include laminin α-2 deficiency, collagen VI-related disorders, SEPN1-related myopathy, laminopathies, and disorders of α-dystroglycan glycosylation, a particularly heterogeneous subgroup often associated with central nervous system and ocular involvement.

PMID:
42659544
Bibliographic data and abstract were imported from PubMed on 28 Aug 2026.

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