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