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