Immunoneurologic Disorder, X-Linked

Clinical Features

Woods et al. (1995) described a kindred in which 5 males in 3 sibships across 2 generations connected through females died in the neonatal period of severe hypotonia. All 5 males were of low birth weight. In this kindred, the grandmother, 2 of her 3 daughters, and 1 of her granddaughters (who was the mother of the affected male in the most recent generation) had a slowly progressive proximal muscle weakness, brisk reflexes, poor bladder function, static reduced night vision, and IgG2 deficiency. The diagnosis offered in the 3 living symptomatic females was 'hereditary spastic paraplegia plus.' Investigations excluded myotonic dystrophy (DM; 160900), the mitochondrial NARP syndrome (551500), and X-linked hyper-IgM (308230). This entity should be considered in the differential diagnosis of families presenting with severe neonatal hypotonia in males and with complex hereditary spastic paraplegia in females.

Mapping

Using the hypothesis that the condition is an X-linked dominant, Woods et al. (1995) found by haplotype analysis that the disease locus is within Xq26-qter.