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 ... 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.
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