Spinal muscular atrophy with lower extremity predominance 2A | |
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Other names | Lower extremity-predominant spinal muscular atrophy type 2A, SMALED2A |
Spinal muscular atrophy with lower extremity predominance 2A is inherited in an autosomal dominant manner. | |
Specialty | Neurology |
Symptoms | Muscle weakness in legs |
Usual onset | Infancy |
Duration | Lifetime |
Causes | Mutations in BICD2 gene |
Diagnostic method | 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] [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]