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