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