Brás, 2019: Overview of all reported DYT-KMT2B patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
PRT
6
28
No
Dystonia, craniofacial
Dysarthria
Dysphonia
Dystonia, hand
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, limb
Dystonia, laryngeal
Dystonia, arm
Dystonia, lower face
Dystonia, oromandibular
Dystonia, tongue
Dystonia, foot
Dystonia, cervical
Torticollis
Dystonia,task-specific
Dystonia, leg
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n.a.