Dafsari, 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
n.a.
6
18
n.a.
Torticollis
Dysphonia
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, generalized
Dystonia, axial
Retrocollis
Dystonia, limb
Dysarthria
Dystonia, foot
Dystonia, craniofacial
Dystonia, oromandibular
Dystonia, lower face
Dyskinesia
Dystonia, cervical
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n.a.
Yes
C
n.a.
0
47
n.a.
Torticollis
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, oromandibular
Dystonia, limb
Dystonia, foot
Dystonia, axial
Dystonia, leg
Dystonia, laryngeal
Dystonia, generalized
Dystonia, cervical
Dysarthria
Dystonia, lower face
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n.a.
Yes
n.a.
n.a.
3
8
n.a.
Dystonia, lower face
Dysarthria
Depression
Dystonia, leg
Dystonia, axial
Dyskinesia
Dystonia, hand
Dystonia (any or unspecified)
Dysphonia
Dystonia, generalized
Dystonia, craniofacial
Dystonia, oromandibular
Dystonia, foot
Dystonia, laryngeal
Dystonia, cervical
Dystonia, limb
Torticollis
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n.a.