Patients With Congenital Muscular Dystrophies Require Prospective Neurologic, Cardiologic, and Orthopedic Examinations.

The article focuses on a cross-sectional study of 42 patients with congenital muscular dystrophy (CMD), highlighting the clinical presentation and genetic predisposition of the disease. The most common CMD types identified were COL-6-associated CMD, LAMA2-associated CMD, LMNA-associated CMD, and alpha-dystroglycanopathy, with motor impairments being severe, especially in alpha-dystroglycanopathy cases. The commentary emphasizes the need for comprehensive evaluation beyond motor and cognitive functions, particularly cardiac assessment due to potential cardiomyopathy risks, and detailed family history to distinguish inherited from de novo mutations for accurate genetic counseling. It also raises concerns about methodological inconsistencies regarding muscle biopsy confirmation and clarifies that kyphosis and lordosis are normal spinal curvatures, suggesting the need for precise terminology. [Extracted from the article]