Tongue fasciculations in an infant with spinal muscular atrophy type 1.
Muscular hypotonia in infants may be associated with several conditions, such as spinal muscular atrophy (SMA). We report on an infant with tongue fasciculations and a rare mutation of the SMN1 gene. The presence of tongue fasciculations in combination with a thorough history may be suggestive of SMA.
Department of General Pediatrics and Neonatology, University Children's Hospital of Saarland Kirrberger Street, 66421, Homburg (Saar), Germany.
Eleni Z
EZ
Giannopoulou
Practice of Human Genetics 14 Kardinal-Wendel Street, 66424, Homburg, Germany.
Thomas
T
Martin
Institute of Human Genetics, Institute for Genetics and Center for Molecular Medicine Cologne, University of Cologne Cologne, Germany.
Brunhilde
B
Wirth
Neurosciences/Neuroradiology, University Hospital of Saarland Kirrberger Street, 66421, Homburg (Saar), Germany.
Umut
U
Yilmaz
Department of General Pediatrics and Neonatology, University Children's Hospital of Saarland Kirrberger Street, 66421, Homburg (Saar), Germany.
Ludwig
L
Gortner
Department of General Pediatrics and Neonatology, University Children's Hospital of Saarland Kirrberger Street, 66421, Homburg (Saar), Germany ; Section Neuropediatrics, University Children's Hospital of Saarland Kirrberger Street, 66421, Homburg (Saar), Germany.
Sascha
S
Meyer
Mega-cisterna magna; neuromuscular disease; point mutation; tongue fasciculation