Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) is a rare neuromuscular disorder characterised by muscle weakness predominantly in legs.
The disorder is usually diagnosed shortly after birth; affected children have a delayed motor development, waddling gait, difficulties walking, sometimes develop spasticity.
[1][2] Sensation, swallowing and cognitive development are not affected.
The disorder is slowly progressive throughout the lifetime.
[1] The disease is caused by a mutation in the BICD2 gene and is passed on in an autosomal dominant manner.