Zech, 2016: Overview of all reported DYT-KMT2B patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
DEU
|
11
|
15
|
n.a.
|
Cognitive impairment
Delayed speech and language development Global developmental delay Dystonia, generalized Dystonia, arm Dystonia, cervical Motor delay Dysarthria Microcephaly Dystonia, axial Dystonia, leg Dystonia (any or unspecified) Dystonia, craniofacial Dysmorphic features Dystonia, tongue Dystonia, foot Dystonia, limb Show more (+14) |
Dystonia, leg
|
|
Yes
|
♀
|
C
|
AUT
|
4
|
6
|
n.a.
|
Dystonia, generalized
Dystonia, axial Short stature Delayed speech and language development Dystonia, leg Dystonia, foot Microcephaly Dysmorphic features Dystonia (any or unspecified) Dystonia, limb Cognitive impairment Dystonia, cervical Show more (+9) |
Dystonia, foot
|
|
Yes
|
♀
|
C
|
DEU
|
3
|
11
|
n.a.
|
Motor delay
Dystonia, limb Dysmorphic features Dystonia, leg Dystonia, generalized Dystonia, arm Dystonia (any or unspecified) Cognitive impairment Microcephaly Dystonia, foot Dystonia, axial Short stature Show more (+9) |
Dystonia, leg
|
|
Yes
|
♀
|
C
|
AUT
|
7
|
31
|
n.a.
|
Dystonia, limb
Dystonia (any or unspecified) Dystonia, foot Dystonia, hand Dystonia, tongue Dystonia, arm Dystonia, laryngeal Dysarthria Dystonia, axial Dystonia, generalized Dystonia, craniofacial Dystonia, leg Dystonia, lower face Dystonia, cervical Show more (+11) |
Dystonia, foot
Dystonia, hand |
|
No
|
♂
|
C
|
AUT
|
11
|
61
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, arm Dysarthria Global developmental delay Tremor, action Mild global developmental delay Delayed speech and language development Dystonia,task-specific Dystonia, hand Cognitive impairment Tremor, limb Tremor (any or unspecified) Dystonia, limb Dystonia, focal Show more (+11) |
Dystonia, arm
Dystonia, hand |
|
No
|
♂
|
C
|
AUT
|
9
|
36
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, focal Microcephaly Dystonia,task-specific Dystonia, arm Dystonia, hand Global developmental delay Dysarthria Dysmorphic features Short stature Dystonia, limb Delayed speech and language development Mild global developmental delay Cognitive impairment Show more (+11) |
Dystonia, arm
Dystonia, hand |