| Synonyms: | Lower extremity-predominant spinal muscular atrophy type 2A, SMALED2A |
| Field: | Neurology |
| Symptoms: | Muscle weakness in legs |
| Onset: | Infancy |
| Duration: | Lifetime |
| Causes: | Mutations in BICD2 gene |
| Diagnosis: | Molecular test |
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] Sensation, swallowing and cognitive development are not affected. The disorder is slowly progressive throughout the lifetime.
The disease is caused by a mutation in the BICD2 gene and is passed on in an autosomal dominant manner.
There is no known cure for SMALED2A.