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