title: Spectrum of floppy children in Indian scenario.
abstract: OBJECTIVE
  To study the clinical profile of paralytic floppy infants undertaking available investigations and detect the frequency of exon7 of survival motor neuron (SMNT) gene deletion among the spinal muscular atrophy (SMA) cases.
  
  
  METHODS
  Descriptive study.
  
  
  METHODS
  Tertiary care teaching hospital.
  
  
  METHODS
  70 paralytic floppy infants (40 males/30 females) with age less than 13 years were included in the study. Exclusion criteria included central hypotonia of any cause. Detailed clinical evaluation was done followed by serum creatine phosphokinase levels, electrophysiological studies, muscle biopsy including immunohistochemistry and electron microscopy. Exon7 of SMNT gene deletion studies was done by PCR.
  
  
  RESULTS
  Final diagnosis of SMA was assigned to 37 patients followed by congenital myopathy (n = 7), cogenital muscular dystrophy (n = 5), mitochondrial myopathy (n = 4), neuropathies (n = 5) and diaphragmatic SMA (n = 1). Only 15.7% of cases remained unclassified. When EMG was correlated with final diagnosis, it was 80.6% and 75% sensitive and 68.8% and 87.5% specific for neurogenic and muscle disease, respectively. Muscle biopsy revealed neurogenic atrophy in 47.8% cases followed by normal in 37.3% and myopathic pattern in 14.97% cases. Exon7 of SMNT gene was deleted in only 50% of SMA cases.
  
  
  CONCLUSIONS
  Spinal muscular atrophy was the commonest cause of floppy children. The low rate of SMNT gene deletion detected needs confirmation with further studies.
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.
authors.forename: T
authors.initials: T
authors.lastname: Dua
authors.forename: M
authors.initials: M
authors.lastname: Das
authors.forename: M
authors.initials: M
authors.lastname: Kabra
authors.forename: M
authors.initials: M
authors.lastname: Bhatia
authors.forename: C
authors.initials: C
authors.lastname: Sarkar
authors.forename: S
authors.initials: S
authors.lastname: Arora
authors.forename: M C
authors.initials: MC
authors.lastname: Sharma
authors.forename: V
authors.initials: V
authors.lastname: Kalra
mesh_terms: D002648:Child; D002675:Child, Preschool; D017362:Cyclic AMP Response Element-Binding Protein; D004576:Electromyography; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein