Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).
Londe (1894) reported affected 5- and 6-year-old brothers whose parents were first cousins. Marinesco (1915) described it in a 12-year-old girl and her 8-year-old brother. Pyramidal tracts were not involved. Fazio's cases are said (Gomez et al., 1962) ... Londe (1894) reported affected 5- and 6-year-old brothers whose parents were first cousins. Marinesco (1915) described it in a 12-year-old girl and her 8-year-old brother. Pyramidal tracts were not involved. Fazio's cases are said (Gomez et al., 1962) to have been a mother and her 4.5-year-old son. Benjamins (1980) described an identically affected sib of the child reported by Gomez et al. (1962). The boy had been seen at age 29 months because of progressive inspiratory stridor. He showed mild bilateral ptosis and almost immobile vocal cords. At 32 months he had difficulty swallowing, ptosis, bilateral facial weakness, absent gag reflex, generalized hyperreflexia and diminished diaphragmatic motion. He died at 36 months of age; the sib had died at 44 months. The disorder showed phenotypic overlap with amyotrophic lateral sclerosis (ALS; 105400). Bosch et al. (2011) reported 2 sibs from a consanguineous family. The first child, a boy, presented at 6 months of age with a short history of progressive muscle weakness followed by life-threatening apneic spells requiring ventilation. He had generalized muscle weakness, severe head lag, and diaphragmatic paralysis. His sister presented at 3 months of age with failure to thrive and generalized axial muscle weakness. Sensorineural hearing loss was excluded by brainstem-evoked response audiometry.
Bosch et al. (2011) identified a consanguineous family with 2 affected children who were found to be homozygous for a splice site mutation in the C20ORF54 gene (613350.0008). Spinal muscular atrophy (SMA; 253300) had been excluded by genetic ... Bosch et al. (2011) identified a consanguineous family with 2 affected children who were found to be homozygous for a splice site mutation in the C20ORF54 gene (613350.0008). Spinal muscular atrophy (SMA; 253300) had been excluded by genetic testing.