Spinal_muscular_atrophy_with_lower_extremity_predominance_2A
Spinal muscular atrophy with lower extremity predominance 2A
Rare genetic disease
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.[1]
There is no known cure for SMALED2A.[citation needed]