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
43
60
No
Dysarthria
Dystonia, axial
Dystonia, generalized
Tremor (any or unspecified)
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, limb
Dysphonia
Dystonia, cervical
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Dystonia, cervical
Yes
C
CZE
17
21
No
Dysphonia
Dysarthria
Dystonia, cervical
Dystonia, foot
Dystonia, axial
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, laryngeal
Retrocollis
Dystonia, generalized
Dystonia, limb
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Dystonia, foot
Dystonia, leg
Yes
C
CZE
7
52
No
Dystonia, tongue
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, leg
Dystonia, foot
Dystonia, generalized
Dystonia, laryngeal
Retrocollis
Torticollis
Dysarthria
Dystonia, limb
Tremor (any or unspecified)
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Dystonia, foot