Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness.

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.

Creutzfeldt–Jakob disease This genetic disorder article is a stub.