Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I

Congenital muscular dystrophies (CMDs) are a heterogenous group of autosomal recessively inherited muscle disorders. Laminin α2 negative CMD (MDC1A) constitutes approximately 40% of all CMD in the white population. A number of muscular dystrophies with secondary loss of laminin α2 are known, including Fukuyama CMD, MDC1B, MDC1C, and muscle-eye-brain disease. Patients with limb-girdle muscular dystrophy (LGMD 2I) have different mutations in the same gene as MDC1C but have a milder clinical course. Other forms of CMD with normal expression of laminin α2 have been identified at the molecular level, including CMD with rigid spine (RSMD-1) and Ullrich CMD. Despite rapid progress in classification, many patients with a phenotype of CMD do not match to any of the described forms. Respiratory failure and the need of ventilation have been reported, but no studies have yet systematically addressed the determinants of respiratory muscle weakness.1–4⇓⇓⇓ We performed a prospective respiratory assessment of 23 patients with CMD and 4 patients with LGMD 2I from 1998 to 2001. Patients had a full diagnostic workup including muscle immunohistochemistry and additional molecular studies according to the criteria of the European project of genetic resolution of …