X-linked spinal muscular atrophy (SMAX2) caused by de novo c. 1731C> T substitution in the UBA1 gene
M Jędrzejowska, E Jakubowska-Pietkiewicz… - Neuromuscular …, 2015 - Elsevier
Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy
manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and
cryptorchidism, and frequently accompanied by bone fractures. We present a male patient
with SMAX2 who presented with typical symptoms at birth, preceded by reduced fetal
movements in the second and third trimesters of pregnancy. Clinical examination revealed a
myopathic face with a characteristic tent-shaped open mouth, tongue fibrillations, profound …
manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and
cryptorchidism, and frequently accompanied by bone fractures. We present a male patient
with SMAX2 who presented with typical symptoms at birth, preceded by reduced fetal
movements in the second and third trimesters of pregnancy. Clinical examination revealed a
myopathic face with a characteristic tent-shaped open mouth, tongue fibrillations, profound …