Infantil spinal muskelatrofi
Også kjent som: SMAX2, Infantile-onset X-linked spinal muscular atrophy, Distal arthrogryposis multiplex
Engelsk navn: Infantile-onset X-linked spinal muscular atrophy
Engelske synonym: SMAX2,Spinal muscular atrophy with arthrogryposis,X-linked distal arthrogryposis multiplex congenita,X-linked spinal muscular atrophy type 2
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements <i>in utero</i> and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.