Spinal muscular atrophy with lower extremity predominance 2A
Spinal muscular atrophy with lower extremity predominance 2A | |
---|---|
Other names | Lower extremity-predominant spinal muscular atrophy type 2A, SMALED2A |
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
autosomal dominant manner.[1]
There is no known cure for SMALED2A.[citation needed]
See also
- Spinal muscular atrophies
- Spinal muscular atrophy with lower extremity predominance 1
- Spinal muscular atrophy with lower extremity predominance 2B
References