title: Long-term survival in a child with arthrogryposis multiplex congenita and spinal muscular atrophy.
abstract: Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex congenita who has had a much better course and is alive without ventilator support at age 6 years. This case illustrates that the prognosis for spinal muscular atrophy and arthrogryposis multiplex congenita cannot always be predicted with certainty.
authors.affiliation: Department of Pediatrics, Azienda Policlinico, University of Catania, Sicily, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Falsaperla
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: A
authors.initials: A
authors.lastname: Di Giorgio
authors.forename: P
authors.initials: P
authors.lastname: Pavone
authors.forename: E
authors.initials: E
authors.lastname: Parano
authors.forename: A M
authors.initials: AM
authors.lastname: Connolly
mesh_terms: D001176:Arthrogryposis / Q000503:physiopathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D014897:Spinal Muscular Atrophies of Childhood / Q000503:physiopathology*; D017741:Survivors