infantile-onset X-linked spinal muscular atrophy
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.
MONDO:0001516
spinal muscular atrophy
is_a
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015168
arthrogryposis multiplex congenita
is_a
SMAX2
exact
X-linked distal arthrogryposis multiplex congenita
exact
X-linked spinal muscular atrophy type 2
exact
spinal muscular atrophy with arthrogryposis
exact
spinal muscular atrophy, X-linked 2
related
spinal muscular atrophy, X-linked 2, infantile, X-linked recessive
exact
spinal muscular atrophy, X-linked type 2
exact
SPBC1604.21c