| Spinal muscular atrophy with lower extremity predominance 2B | |
|---|---|
| Other names | Lower extremity-predominant spinal muscular atrophy type 2B, SMALED2B |
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| Spinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner. | |
| Specialty | Neurology |
| Symptoms | Generalised severe hypotonia at birth |
| Usual onset | Infancy |
| Duration | Lifetime |
| Causes | Mutations in BICD2 gene |
| Diagnostic method | Molecular test |
| Prognosis | Life limiting |
Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness.
Indications
Decreased foetal movement is apparent already before birth. The child is born with a generalised muscle weakness (hypotonia) and contractures resembling arthrogryposis multiplex congenita, respiratory insufficiency, and sometimes facial deformations. The disorder is frequently fatal in early childhood.
Cause
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 to SMALED2B.