Kawarai, 2018: Overview of all reported DYT-KMT2B patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
JPN
|
8
|
22
|
n.a.
|
Dystonia, laryngeal
Global developmental delay Motor delay Dysphonia Dystonia, arm Dystonia, axial Cognitive impairment Dystonia (any or unspecified) Short stature Microcephaly Dystonia,task-specific Dystonia, hand Dystonia, cervical Dystonia, generalized Dystonia, limb Show more (+12) |
Dystonia, hand
|
|
Yes
|
♂
|
A
|
JPN
|
6
|
18
|
n.a.
|
Global developmental delay
Microcephaly Motor delay Dystonia (any or unspecified) Dystonia, limb Dystonia, generalized Dystonia, foot Dystonia, axial Cognitive impairment Dystonia, cervical Short stature Myoclonus Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
JPN
|
5
|
15
|
n.a.
|
Microcephaly
Muscular hypotonia Delayed speech and language development Dystonia (any or unspecified) Dystonia, axial Dystonia, arm Cognitive impairment Motor delay Dystonia, leg Short stature Global developmental delay Myoclonus Dystonia, cervical Dystonia, generalized Dystonia, limb Dystonia, laryngeal Dysphonia Dystonia, foot Show more (+15) |
Dystonia, foot
|
|
Yes
|
♀
|
A
|
JPN
|
6
|
16
|
n.a.
|
Dystonia, cervical
Dystonia, laryngeal Dysarthria Dystonia, limb Dysphonia Motor delay Dystonia, axial Microcephaly Dysmorphic features Dystonia, generalized Global developmental delay Dystonia (any or unspecified) Dystonia, craniofacial Show more (+10) |
n.a.
|