Arch Pediatr 2020 Dec;27(7S):7S23-7S28
FILNEMUS; Unité Neuromusculaire de l'Enfant, Service de Neurologie et Réanimation Pédiatrique, Hôpital Raymond Poincaré (GH APHP Université Paris Saclay), Garches, France; UMR 1179 Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologie appliquées (END-ICAP) - UMR U1179 (INSERM/UVSQ); Centre de Référence Nord-Est-Ile de France. Electronic address:
Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. Read More