X-linked Infantile Spinal muscular atrophy

X-linked Infantile Spinal muscular atrophy is caused by mutations in the UBA1 gene. Symptoms appear in infancy and include severe muscle weakness, breathing difficulties, neuronal abnormalities and joint defects (digital contractures). Some severely affected infants are born with broken bones possibly due to poor muscle tine.

General information links for X-linked Infantile Spinal muscular atrophy: