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