Spinal muscular atrophy with lower extremity predominance 2B | |
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Other names | Lower extremity-predominant spinal muscular atrophy type 2B, SMALED2B |
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.
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. [1] [2] The disorder is frequently fatal in early childhood. [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 to SMALED2B.