FIGURE 2:

Recent photographs of the index patient showing the characteristic facial features of atrophy most prominent in the jaw and lower facial muscle producing a triangular appearance of the lower face (left panels). The index patient and several other members of the family also exhibit bilateral eyelid ptosis. All observed affected family members have a generally thin body habitus from childhood until well before the obvious onset of DYT4 features, which invariably commences with spasmodic dysphonia. Poor dentition and eventually edentulousness is common in the more severely affected family members, especially those with extrusional tongue movements (left, middle panel). Synkinetic movements of the levator palpebrae superioris, ocular, and jaw muscles are triggered by jaw opening (left, lower panel). The characteristic dystonic “hobby horse” gait of DYT4 dystonia is seen in the right panel. [Color figure can be viewed in the online issue, which is available at www.annalsofneurology.org.]