spinal muscular atrophy with lower extremity predominant 2B

A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2

A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.

Signs and symptoms

• Talipes equinovarus
• Multiple joint contractures
• Congenital hip dislocation
• Femur fracture
• Cerebral cortical atrophy
• Flexion contracture
• Spina bifida occulta
• Severe muscular hypotonia
• Motor delay
• Perisylvian polymicrogyria

Also known as: spinal muscular atrophy with lower extremity predominance 2B