Congenital muscular dystrophy

Finding a suitable classification for the muscular dystrophies is a formidable task. In the premolecular era attempts were based on phenotypic features that often erroneously separated entities (e.g., Duchenne and Becker dystrophies). In the molecular era new challenges arose with proven clinical heterogeneity from single gene defects (e.g., Miyoshi myopathy and limb-girdle muscular dystrophy1). The dilemma of classification is again brought into sharp focus in an article by Cormand et al. on congenital muscular dystrophy (CMD) in this issue of Neurology.2

For a century the nosology of CMD has challenged clinicians. The disease was first reported in 1903 by Batten, well-known for his description of juvenile neuronal ceroid lipofuscinosis.3 For 50 years clinicians avoided the term CMD, using instead confounding designations such as “myatonia or amyotonia congenita.” Thus, CMD was not even mentioned in the landmark classification of muscle disease set forth by Walton and Natrass in 1954.4 The important publication of Banker et al. in 1957 rekindled interest in CMD especially in association with arthrogryposis multiplex congenita.5 Nevertheless, as recently as 1986, Brooke …