title: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.
abstract: BACKGROUND
  Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically and genetically distinct and uncommon variant of SMA that results from irreversible degeneration of α-motor neurons in the anterior horns of the spinal cord and in ganglion cells on the spinal root ganglia.
  
  
  OBJECTIVE
  To describe the clinical, electrophysiological, neuropathological, and genetic findings, at different stages from birth to death, of a Spanish child diagnosed with SMARD1.
  
  
  METHODS
  We report the case of a 3-monthold girl with severe respiratory insufficiency and, later, intense hypotonia. Paraclinical tests included biochemistry, chest X-ray, and electrophysiological studies, among others. Muscle and nerve biopsies were performed at 5 and 10 months and studied under light and electron microscopy. Post-mortem examination and genetic investigations were performed.
  
  
  RESULTS
  Pre- and post-mortem histopathological findings demonstrated the disease progression over time. Muscle biopsy at 5 months of age was normal, however a marked neurogenic atrophy was present in post-mortem samples. Peripheral motor and sensory nerves were severely involved likely due to a primary axonal disorder. Automatic sequencing of IGHMBP2 revealed a compound heterozygous mutation.
  
  
  CONCLUSIONS
  The diagnosis of SMARD1 should be considered in children with early respiratory insufficiency or in cases of atypical SMA. Direct sequencing of the IGHMBP2 gene should be performed.
authors.forename: Beatriz
authors.initials: B
authors.lastname: San Millan
authors.forename: Jose M
authors.initials: JM
authors.lastname: Fernandez
authors.forename: Carmen
authors.initials: C
authors.lastname: Navarro
authors.forename: Alfredo
authors.initials: A
authors.lastname: Reparaz
authors.forename: Susana
authors.initials: S
authors.lastname: Teijeira
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D018482:Muscle, Skeletal / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D013116:Spinal Cord / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors