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