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.



Informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.

ORPHA: 1145
Klassifiseringsnivå: Disorder
ICD-10: G12.1



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