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