title: Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3.
abstract: BACKGROUND
  Spinal muscular atrophy (SMA) is a common genetic disorder that causes severe hypotonia and weakness, and often fatal restrictive lung disease. The aim of the study was to describe the natural history of the respiratory involvement in patients with SMA type 2 and 3 in order to assess the relevance of the clinical classification and identify the parameters associated with the earliest and most rapid decline over time.
  
  
  METHODS
  Thirty-one patients aged 3-21 years were followed over a 10-year period. Lung function, blood gases, respiratory mechanics and muscle strength with recording of oesogastric pressures were measured during routine follow-up.
  
  
  RESULTS
  At least two measurements were available in 16 patients (seven type 2 and nine type 3). Among all the volitional and non-volitional, invasive and non-invasive tests, forced vital capacity (FVC) and sniff nasal inspiratory pressure (SNIP) were shown to be the most informative parameters, showing lower values in SMA type 2, with however a similar rate of decline in patients with SMA type 2 and 3.
  
  
  CONCLUSIONS
  Our results confirm an earlier decline in lung and respiratory muscle function in patients classified as SMA type 2 as compared with patients classified as type 3. This decline can be assessed by two simple non-invasive tests, FVC and SNIP, with the last maneuver being feasible and reliable in the youngest children, underlying its interest for the monitoring of children with SMA.
authors.affiliation: S2A Santé, Ivry-sur-Seine, France; Pediatric Pulmonary Department, AP-HP, Hôpital Armand Trousseau, Paris, France.
authors.forename: Sonia
authors.initials: S
authors.lastname: Khirani
authors.forename: Marina
authors.initials: M
authors.lastname: Colella
authors.forename: Valeria
authors.initials: V
authors.lastname: Caldarelli
authors.forename: Guillaume
authors.initials: G
authors.lastname: Aubertin
authors.forename: Michèle
authors.initials: M
authors.lastname: Boulé
authors.forename: Véronique
authors.initials: V
authors.lastname: Forin
authors.forename: Adriana
authors.initials: A
authors.lastname: Ramirez
authors.forename: Brigitte
authors.initials: B
authors.lastname: Fauroux
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007384:Intermittent Positive-Pressure Breathing; D008137:Longitudinal Studies; D008171:Lung Diseases / Q000209:etiology* / Q000473:pathology*; D008297:Male; D053580:Muscle Strength / Q000235:genetics / Q000502:physiology*; D012132:Respiratory Muscles / Q000503:physiopathology*; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000473:pathology; D014797:Vital Capacity; D055815:Young Adult
keywords: Diaphragm; Lung function; Respiratory muscles; Sniff nasal inspiratory pressure; Spinal muscular atrophy; Vital capacity