Lethal arthrogryposis with anterior horn cell disease

Lethal arthrogryposis with anterior horn cell disease, abbreviated LAAHD, is an autosomal recessive genetic disorder marked by reduced movement of the fetus and early death. It resembles the related LCCS1 disease but the picture is milder, with survival past the 32nd week of gestation, although affected babies are often stillborn or live only a few minutes. Fetal movements are scanty and stiff, often only in the upper limbs, and the joint malpositions are mainly distal, with less severe elbow contractures than in LCCS1. Some patients have long bone fractures before birth. The skeletal muscles show neurogenic atrophy, and the anterior horn motor neurons of the spinal cord are fewer in number and degenerated, although the size and shape of the cord are normal. The disease results from compound heterozygous mutations in the GLE1 gene. It is one of about 40 Finnish heritage diseases and is far more common in Finland than elsewhere.