title: [Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)].
abstract: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by motoneuron degeneration in the anterior horn of the spinal cord and in the bulbar nuclei. The various types of SMA are linked to the 5q13 locus in 95 % of cases. In the absence of an effective specific treatment, orthopaedic and respiratory management can significantly improve the prognosis. To study the contemporary natural history of SMA and to identify clinical and non invasive prognostic criteria, 168 patients with SMA were recruited in 6 hospital units (Lille, Lyon, Marseille, Paris) during a 4-year prospective multicenter follow-up study (1998-2002). Follow-up has now lasted at least 4 years in 151 cases (90%), and 24 of these patients have died Disease outcome was appraised by using three criteria: muscle strength, the sum of the motor function and examination index (IFM), the respiratory muscle paralysis index (IMR), and the dorsal decubitus forced vital capacity/theoretical index (ICV/CT). Statistical analysis showed a significant worsening (about 20%) of the three criteria during follow-up. The motor function and examination index (IFM) is particularly interesting: the difference between initial and final status was significant in all age groups and in all three types of the disease. The IFM may thus be useful as the main outcome measure during therapeutic trials.
authors.affiliation: Hôpital Raymond Poincaré - 92380 Garches.
authors.forename: Annie
authors.initials: A
authors.lastname: Barois
authors.forename: Michèle
authors.initials: M
authors.lastname: Mayer
authors.forename: Isabelle
authors.initials: I
authors.lastname: Desguerre
authors.forename: Brigitte
authors.initials: B
authors.lastname: Chabrol
authors.forename: Carole
authors.initials: C
authors.lastname: Berard
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Cuisset
authors.forename: Danielle
authors.initials: D
authors.lastname: Leclair-Richard
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Visconti-Lougovoy
authors.forename: Françoise
authors.initials: F
authors.lastname: Hatton
authors.forename: Brigitte
authors.initials: B
authors.lastname: Estournet-Mathiaud
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004185:Disability Evaluation; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008297:Male; D011446:Prospective Studies; D012132:Respiratory Muscles / Q000503:physiopathology; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics / Q000401:mortality / Q000503:physiopathology*