Table 1

Patients presenting with hoarseness/dysphonia and their SOD1 gene status

ReferenceMutation/FHLaryngoscopic findingsDisease presentationSurvival
Fukae et al2SOD1 (I 149 T)Bilat VCAbdP
Asymmetric
Hoarseness followed 10 months later by dysphagia/fasciculationsNot stated
Origone et al4SOD1 (Gly 147 Ser)Bilat VCAbdP
R then L cord after 3 weeks
Episodic dyspnoea and hoarseness, stridor8 months
Tan et al5SOD1 (Asp 101 Tyr)Bilat VCP unspecifiedHoarseness for 3 months, followed by dysphagia11 months
Bigliardi et al8No FHBilat VCAbdP6 month history of hoarseness. Admitted with dyspnoea and stridor, no dysarthria/dysphagiaNot stated
Levian and Gupta14No FHBilat VCAbdP4 month history of hoarseness/dysphoniaNot stated
Hermann et al3SOD1 (I 113 F)Bilat VCP unspecified
laryngospasm
Hoarseness for 5 weeks and rapid involvement of other areas15 months
Our caseSOD1 (Val 149 Gly)Unilateral VCAdd PHoarseness/dysphonia20 months
  • ALS, amyotrophic lateral sclerosis; FH, family history of MND/ALS; MND, motor neuron disease; SOD1, superoxide dismutase 1; VCAbdP, vocal cord abductor paresis or paralysis; VCAddP, vocal cord adductor paresis or paralysis; VCP, unspecified vocal cord paresis or paralysis.