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