Kumar, 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
n.a.
n.a.
n.a.
n.a.
n.a.
No
Dystonia, generalized
Dystonia (any or unspecified)
n.a.
Yes
C
AUS
10
26
n.a.
Dysmorphic features
Dystonia, cervical
Dystonia, leg
Cognitive impairment
Dystonia, foot
Dystonia, hand
Dystonia, laryngeal
Dystonia, oromandibular
Dystonia, lower face
Torticollis
Dystonia (any or unspecified)
Retrocollis
Dysarthria
Dystonia, generalized
Dystonia, limb
Dystonia, craniofacial
Show more (+13)
n.a.
p.Tyr1587*: het
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
No
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, limb
Dystonia, foot
Show more (+1)
n.a.
Yes
A
IND
5
23
n.a.
Dystonia, cervical
Dystonia, generalized
Torticollis
Dystonia, oromandibular
Dysphonia
Dystonia (any or unspecified)
Tremor (any or unspecified)
Dystonia, hand
Tremor, limb
Dystonia, lower face
Dystonia, leg
Dysarthria
Dystonia, foot
Dystonia, jaw
Dystonia, arm
Dystonia, limb
Dystonia, axial
Dystonia, laryngeal
Dystonic tremor
Dystonia, craniofacial
Retrocollis
Show more (+18)
n.a.