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, arm
Dystonia, generalized Short stature Dystonia, cervical Dystonia (any or unspecified) Motor delay Dysphonia Dystonia, axial Global developmental delay Cognitive impairment Dystonia, laryngeal Microcephaly Dystonia,task-specific Dystonia, hand Dystonia, limb Show more (+12) |
Dystonia, hand
|
|
Yes
|
♂
|
A
|
JPN
|
6
|
18
|
n.a.
|
Dystonia, limb
Global developmental delay Dystonia, cervical Motor delay Short stature Dystonia, generalized Cognitive impairment Dystonia, axial Dystonia, foot Microcephaly Myoclonus Dystonia (any or unspecified) Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
JPN
|
5
|
15
|
n.a.
|
Global developmental delay
Dystonia (any or unspecified) Dystonia, foot Motor delay Short stature Delayed speech and language development Dysphonia Dystonia, arm Myoclonus Cognitive impairment Dystonia, generalized Dystonia, axial Muscular hypotonia Dystonia, laryngeal Dystonia, cervical Dystonia, leg Dystonia, limb Microcephaly Show more (+15) |
Dystonia, foot
|
|
Yes
|
♀
|
A
|
JPN
|
6
|
16
|
n.a.
|
Motor delay
Global developmental delay Dysmorphic features Dystonia, generalized Dysarthria Dystonia, craniofacial Dystonia, laryngeal Dystonia, cervical Dystonia, limb Dystonia (any or unspecified) Microcephaly Dystonia, axial Dysphonia Show more (+10) |
n.a.
|