Table 2.

Dystonic features observed by experts in each case.

	EXPERT 1	EXPERT 2	EXPERT 3	EXPERT 4	EXPERT 5	EXPERT 6	EXPERT 7 **
Case 1
A. Dystonic postures of the fingers and wrist
A.1 Extension of the left 2nd and 5th digit during arm extension	✓	✓*		✓	✓	✓
A.2 Flexion of the left 3rd digit during arm extension	✓	✓*		✓*	✓*
A.3 Flexion of the right 5th digit during arm extension	✓	✓*			✓
A.4 Flexion of the right 5th digit during wingbeat position	✓	✓*			✓
A.5 Spooning of left hand during arm extension		✓*			✓
A.6 Extension of the right 2nd digit when walking		✓*		✓	✓
B. Cervical dystonia	✓		✓	✓	✓	✓
C. Craniofacial tremor	✓		✓		✓
Case 2
A. Dystonic postures of the fingers and wrist
A.1 Extension of the right 4th and 5th digit during arm extension		✓*		✓	✓	✓
A.2 Flexion of right wrist during wingbeat position	✓	✓*		✓	✓
A.3 Flexion of left wrist during wingbeat position		✓*
A.4 Flexion of the left 5th digit during wingbeat position	✓	✓*		✓	✓	✓
A.5 Extension of the left 5th digit while pouring	✓	✓*		✓	✓	✓
A.6 Extension of the left 2nd digit when walking	✓	✓*		✓	✓
A.7 Extension of the left 5th digit when walking	✓	✓*
Case 3
A. Dystonic postures of the fingers
A.1 Flexion of the left 3rd digit during arm extension	✓	✓*		✓	✓	✓
A.2 Flexion of the left 3rd digit during wingbeat position	✓	✓*			✓
Case 4
A. Dystonic postures of the fingers and wrist
A.1 Hyper-extension of the right 2nd digit during arm extension		✓*	✓		✓
A.2 Hyper-extension of the left 2nd digit during arm extension	✓	✓*		✓	✓
A.3 Hyper-extension of the right 2nd digit during wingbeat position		✓*	✓		✓
A.4 Hyper-extension of the left 2nd-4th digit during wingbeat position	✓	✓*		✓	✓	✓
A.5 Splaying of left 5th digit during wingbeat position	✓	✓*	✓	✓	✓	✓
A.6 Spooning of left hand during frontward arm extension and wingbeat position	✓	✓*		✓	✓
A.7 Flexion of left wrist	✓	✓*
B. Jerky tremor	✓
Case 5
A. Dystonic postures of the fingers
A.1 Flexion of the left 2nd digit during arm extension		✓*		✓	✓	✓
A.2 Flexion of the left 2nd digit during wingbeat position		✓*		✓	✓
A.3 Flexion of left 3rd digit	✓	✓*
A.4 Hyper-extension of left 4th digit	✓	✓*
A.5 Splaying of left 5th digit during wingbeat position		✓*			✓	✓
A.6 Extension of the right 2nd digit when walking	✓	✓*		✓	✓

* Reported “dystonic posturing of fingers” with no further description.

** Observed many of the listed phenotypes but did not interpret them as dystonic features.