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Table 2 Group 1, 2 and 3 symptoms

From: The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

  Group 1 (N=21) % Group 2 (N=21) % Group 3 (N=28) % Total (N=73) %
Bulbar palsy (CN IX-XII) 18 86% 21 100% 25 89% 67 92%
Hearing loss 14 67% 19 90% 24 86% 59 81%
Facial weakness 10 48% 20 95% 23 82% 56 77%
Respiratory compromise 18 86% 13 62% 13 46% 47 64%
Muscle weakness 14 67% 10 48% 14 50% 40 55%
Upper motor neuron signs 3 14% 10 48% 11 39% 26 36%
Palsy of CN III, IV or VI 9 43% 5 24% 7 25% 23 32%
Stridor 10 48% 3 14% 4 14% 18 25%
Palsy of the trigeminal nerve (V) 1 5% 6 29% 6 21% 14 19%
Lower motor neuron signs 4 19% 5 24% 4 14% 13 18%
Diaphragm weakness/palsy 4 19% 3 14% 4 14% 11 15%
Palsy of the optic nerve (II) 2 10% 3 14% 5 18% 10 14%
Ataxia 2 10% 3 14% 3 11% 9 12%
Tremor 2 10% 1 5% 3 11% 6 8%
Behavioral changes 1 5% 0 0% 2 7% 3 4%
Mental retardation 0 0% 0 0% 3 11% 3 4%
Epilepsy 0 0% 0 0% 2 7% 3 4%
Autonomic dysfunction 0 0% 0 0% 2 7% 2 3%