title: Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?
abstract: We describe a child who presented at birth with arthrogryposis. Following a muscle biopsy a diagnosis of congenital muscular dystrophy was made and a skin biopsy 12 years later confirmed the presence of merosin. Her clinical picture was unusual, however, for merosin-positive congenital muscular dystrophy. She had extreme wasting and weakness of her arms and legs. In contrast, she had good neck and trunk control, and no facial or respiratory muscle weakness. We have used magnetic resonance imaging to examine the pattern of muscle involvement in this case. No recognizable muscle could be identified in the limbs. In contrast, the axial muscles were preserved. This striking pattern of virtual absence of muscles in the limbs with sparing of the axial muscle suggests that a gene responsible for the migration and/or proliferation of limb muscle precursor cells may be involved in the disease process. It is recognized that merosin-positive congenital muscular dystrophy is a heterogeneous disease. Magnetic resonance imaging is a useful tool for examining in detail the pattern of muscle involvement and identifying individual phenotypes. Understanding more about which muscles are affected in children with congenital myopathies may provide information on the underlying pathological process and help in the search for candidate proteins and genes.
authors.affiliation: Neuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, W12 0NN, London, UK.
authors.forename: J
authors.initials: J
authors.lastname: Philpot
authors.forename: S
authors.initials: S
authors.lastname: Counsell
authors.forename: G
authors.initials: G
authors.lastname: Bydder
authors.forename: C A
authors.initials: CA
authors.lastname: Sewry
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology*; D001706:Biopsy; D005260:Female; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D024510:Muscle Development; D018482:Muscle, Skeletal / Q000002:abnormalities* / Q000254:growth & development; D009136:Muscular Dystrophies / Q000151:congenital / Q000473:pathology; D010641:Phenotype