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