title: [Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
abstract: In this article, we review the clinical, neuropathological and genetic aspects of distal spinal-muscular atrophy 1 (DSMA1; MIM#604320), formerly designated as autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) and also known as distal hereditary-motor neuropathy type 6 (dHMN6 or HMN6).
authors.affiliation: Charité, service de neuropédiatrie, hôpital universitaire, campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Allemagne. kaindl@rdebre.inserm.fr
authors.forename: A M
authors.initials: AM
authors.lastname: Kaindl
authors.forename: U-P
authors.initials: UP
authors.lastname: Guenther
authors.forename: S
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: R
authors.initials: R
authors.lastname: Varon
authors.forename: K
authors.initials: K
authors.lastname: Zerres
authors.forename: P
authors.initials: P
authors.lastname: Gressens
authors.forename: M
authors.initials: M
authors.lastname: Schuelke
authors.forename: C
authors.initials: C
authors.lastname: Hubner
authors.forename: K
authors.initials: K
authors.lastname: von Au
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology