Table e-1: Detailed phenotypes of embouchure dystonia

ID / Instrument / ED-Phenotype / Hx / Initial emb. Sx / Discmf? / Pain? / Hx:Reg / Hx: Tec / PE: Reg / PE Tec / Dys / Spread / PE
D1 / trombone / LP / N / Difficulty to control sound quality / N / N / Y-middle and low / Y-legato / Y-middle and low / Y-legato and sustained tones / N / N / Relatively subtle
D2 / French horn / Tg / N / Loss of tongue control / N / N / Y-low / Y-attack / Y-low and middle / Y-attack and legato / N / N / Clear embouchure dystonia
D3 / trumpet / LL / Y 20 years before, facial palsy left,10 years ago dystonia / Difficulty to control sound quality / N / N / Y–low / Y- legato and attack / Y-low and middle / Y-legato, attack and sustained tones / N / N / LL and tremor quite obvious
D4 / trombone / LL / N / Loss of embouchure control / N / N / Y-low / Y-legato / Y-low / Y-legato / N / N / Subtle LL and tongue stop
D5 / French horn / LP / N / Difficulty to control sound quality / Y–feeling of “swollen lips” / Initially pain / Y–high / Y-legato / Y-high / Y-legato / N / N / Relatively subtle
D6 / trumpet / LL / N / Difficulty to produce sustained tones / Y-tensionin facial muscles and lips / N / Y-middle and low / Y-attack and legato / N-all register / Y-attack, sustained tones and legato / N / N / Clear embouchure dystonia
D7 / French horn / T / N / Tremor and instability of lip position / N / N / Y-middle / Y-attack / Y-middle and low / Y–attack and legato / N / N / Clear embouchure dystonia
D8 / trombone / LP / History of dental surgery and temporary sensory deficit / Difficulty to control sound quality / Y-feeling of “swelling of the lips” / N / Y- middle / Y-legato / Y-middle / Y-legato and attack / N / N / Subtle symptoms
D9 / French horn / T / Y / Tremor chin, tension upper lip / Y-subtle sensory deficit upper lip / N / Y-middle / Y-attack / Y-middle / Y-attack and legato / N / N / Clear symptoms with chin tremor
D10 / trombone / LL / N / Difficulty to control sound quality / Y–muscle fatigue / N / Y–middle / Y-legato / Y-middle / Y–legato and sustained tones / N / N / Relatively subtle

Phenotype of embouchure dystonia (ED) is classified according to the classification of Frucht et al.e1: T: tremor; LP: lip-pulling; LL: lip-lock; Tg: tongue; Hx: history of prior embouchure difficulty; Initial emb. Sx: initial embouchure symptoms; Discomf?: embouchure discomfort; pain?: embouchure pain; Hx: Reg: do the symptoms occur in a specific register?; Hx: Tec: do the symptoms occur with a specific instrumental technique?; PE: Reg, PE: Tec: does physical examination confirm the occurrence of symptoms in a specific register or with a specific technique?; Dys: presence of other forms of dystonia during clinical examination; Spread: does ED spread to other oral tasks?; PE: findings on physical examination; Y: yes; N: no.

e-Reference:

e1.Frucht SJ. Embouchure dystonia--Portrait of a task-specific cranial dystonia. Mov Disord 2009;24:1752-1762.

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