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