title: Ullrich congenital muscular dystrophy: report of nine cases from India.
abstract: BACKGROUND
  Ullrich congenital muscular dystrophy (UCMD) is a unique congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy.
  
  
  METHODS
  We prospectively evaluated nine cases of classical UCMD and recorded the clinical phenotypic characteristics and the histopathological findings.
  
  
  RESULTS
  There were eight boys and one girl child with classical features of severe muscle weakness, prominent proximal contractures, distal hyperlaxity and prominent calcanei. Immunohistochemistry for Collagen VI A1 done on seven cases showed total absence of labeling in six while sarcolemmal-specific deficiency was noted in one case confirming the diagnosis of UCMD. Interestingly, all our patients were noted to have near total absence of major palmar and plantar creases, and instead there were fine mesh-like lines in addition to the soft velvety skin on the palms and soles suggestive of altered collagen arrangements in the skin. Hitherto, this clinical finding has not been described in UCMD in the English literature.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India. atchayaramnalini@yahoo.co.in
authors.forename: A
authors.initials: A
authors.lastname: Nalini
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
authors.forename: Vani
authors.initials: V
authors.lastname: Santosh
mesh_terms: D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D024142:Collagen Type VI / Q000172:deficiency; D004562:Electrocardiography; D004576:Electromyography; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007194:India; D007223:Infant; D008297:Male; D009223:Myotonic Dystrophy / Q000473:pathology*; D011446:Prospective Studies
chemical_list: D024142:Collagen Type VI