Zech, 2017: 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
CZE
17
21
n.a.
Dystonia (any or unspecified)
Dysarthria
Dystonia, laryngeal
Retrocollis
Dystonia, axial
Dystonia,task-specific
Dystonia, limb
Dystonia, foot
Dysphonia
Dystonia, generalized
Dystonia, leg
Dystonia, cervical
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Dystonia, foot
Dystonia, leg
Yes
C
CZE
43
60
n.a.
Dystonia, laryngeal
Tremor (any or unspecified)
Dystonia, limb
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, axial
Dysphonia
Dysarthria
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n.a.
Yes
C
CZE
7
52
n.a.
Dystonia, cervical
Dystonia, laryngeal
Dystonia, leg
Dystonia, axial
Dysarthria
Torticollis
Dystonia, foot
Dystonia, tongue
Dystonia, craniofacial
Dystonia, limb
Retrocollis
Dystonia (any or unspecified)
Dystonia, generalized
Tremor (any or unspecified)
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Dystonia, foot