Infantile-onset X-linked spinal muscular atrophy
Infantile-onset X-linked spinal muscular atrophy
Definition
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 in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
Also known as SMAX2, spinal muscular atrophy with arthrogryposis, spinal muscular atrophy, X-linked 2, infantile, X-linked recessive, spinal muscular atrophy, X-linked type 2, X-linked distal arthrogryposis multiplex congenita, X-linked spinal muscular atrophy type 2 — per MONDO