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Acta Myol. 2009 July; 28(1): 37–38.
PMCID: PMC2859644

I-9. Laminopathies in childhood: from emery-dreifuss muscular dystrophy to severe congenital variants

Mutations in the lamins A/C gene (LMNA), located on chromosome 1q11-q23, were originally identified in patients affected by classical Emery-Dreifuss muscular dystrophy, that was however inherited as an autosomal dominant trait (AD-EDMD). AD-EDMD is characterized by i) onset of elbows, Achilles tendons and paraspinal muscle contractures in childhood or adolescence and slowly progressive muscle wasting and weakness affecting predominantly the humero-peroneal muscles, and ii) onset in late adolescence or early adulthood of cardiac conduction defects and, in a minority of cases, dilated cardiomyopathy. The availability of a genetic test has subsequently allowed to expand very considerably the spectrum of the neuromuscular conditions secondary to mutations in the LMNA gene. This now includes conditions with a severe and early onset that mimic congenital muscular dystrophy, to mild conditions with predominant proximal muscle weakness and no contractures that mimic limb girdle muscular dystrophies (LGMD1B). Often these forms result from de-novo dominant mutations in the LMNA gene, and therefore most patients are sporadic. Cardiac involvement is invariably observed in patients with EDMD phenotype. Isolated cardiac involvement with conduction system disease, dilated cardiomyopathy and sudden death with no skeletal muscle weakness has also been recognised as an additional allelic variant. More recently additional allelic variants that do not necessarily affect striated muscle have been recognized. Laminopathies should therefore be considered in all patients with a neuromuscular disease that affects skeletal and cardiac muscle, including children with congenital onset of weakness. A high index of clinical suspicious is necessary as the muscle pathological features are unspecific. Muscle imaging (magnetic Resonance Imaging) can help to suspect the LMNA gene involvement as a specific pattern of muscle involvement has been described.

Articles from Acta Myologica are provided here courtesy of Pacini Editore