Preferred Label : arthrogryposis multiplex congenita, distal, X-linked;
Définition CISMeF : X-linked distal arthrogryposis multiplex congenital (SMAX2) is 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.;
MeSH synonym : AMC, distal, X-linked; spinal muscular atrophy, X-Linked 2; Amcx1; xlsma; Smax2; spinal muscular atrophy, infantile X-Linked; spinal muscular atrophy, X-Linked lethal infantile; arthrogryposis, X-Linked, type I;
Origin ID : C535380;
UMLS CUI : C1844934;
Currated CISMeF NLP mapping
- DO Cross reference
- MeSH term(s) associated for indexing
- ORDO relation(s)
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
X-linked distal arthrogryposis multiplex congenital (SMAX2) is 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.
