Meyer, 2017: Overview of all reported DYT-KMT2B patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
4
|
14
|
n.a.
|
Global developmental delay
Dystonia, limb Cognitive impairment Dystonia, leg Dystonia, foot Dysarthria Dysphonia Dystonia, generalized Dystonia (any or unspecified) Mild global developmental delay Dysmorphic features Dystonia, laryngeal Show more (+9) |
Dystonia, leg
Dystonia, foot |
|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
18
|
n.a.
|
Dystonia, generalized
Dystonia, leg Dysphonia Dysarthria Dysmorphic features Dystonia (any or unspecified) Dystonia, laryngeal Cognitive impairment Short stature Dystonia, limb Show more (+7) |
Dystonia, leg
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
9
|
19
|
n.a.
|
Dysphonia
Anxiety Dystonia, generalized Dystonia, leg Dystonia, hand Depression Cognitive impairment Dystonia, laryngeal Dysmorphic features Dystonia (any or unspecified) Dystonia, arm Dystonia, limb Myoclonus Show more (+10) |
Dystonia, hand
Dystonia, arm |
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
20
|
n.a.
|
Global developmental delay
Microcephaly Dystonia, leg Dystonia, generalized Motor delay Dystonia, foot Dystonia (any or unspecified) Cognitive impairment Delayed speech and language development Dystonia, limb Dysmorphic features Show more (+8) |
Dystonia, leg
Dystonia, foot |
|
Yes
|
♀
|
n.a.
|
n.a.
|
6
|
27
|
n.a.
|
Dysmorphic features
Dysarthria Dystonia, craniofacial Dystonia, foot Dystonia, laryngeal Dystonia (any or unspecified) Anarthria Dystonia, tongue Dystonia, leg Short stature Dystonia, limb Dystonia, generalized Show more (+9) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♂
|
n.a.
|
n.a.
|
8
|
8
|
n.a.
|
Dystonia, cervical
Dystonia, focal Retrocollis Dystonia, craniofacial Dystonia, jaw Dysmorphic features Dystonia (any or unspecified) Dystonia, laryngeal Show more (+5) |
Dystonia, jaw
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
3
|
9
|
No
|
Delayed speech and language development
Dystonia, limb Mild global developmental delay Global developmental delay Dysmorphic features Dystonia, leg Dysarthria Dystonia, generalized Dystonia, foot Cognitive impairment Dystonia, laryngeal Dysphonia Dystonia (any or unspecified) Show more (+10) |
Dystonia, leg
Dystonia, foot |
|
Yes
|
♀
|
n.a.
|
n.a.
|
8
|
19
|
n.a.
|
Torticollis
Dystonia, generalized Dystonia, laryngeal Dystonia, cervical Dystonia, foot Dysarthria Dystonia, leg Dystonia, limb Dysmorphic features Dystonia (any or unspecified) Dysphonia Show more (+8) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♂
|
n.a.
|
n.a.
|
8
|
11
|
n.a.
|
Dystonia, generalized
Dysmorphic features Dystonia, leg Tremor (any or unspecified) Dystonia, laryngeal Dystonia, arm Cognitive impairment Motor delay Dysphonia Dystonia (any or unspecified) Dysarthria Dystonia, hand Dystonia, limb Show more (+10) |
Dystonia, arm
Dystonia, hand |
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
17
|
n.a.
|
Short stature
Dystonia, generalized Dysphonia Dystonia, limb Dystonia (any or unspecified) Dystonia, laryngeal Dystonia, foot Dysmorphic features Dystonia, leg Dysarthria Show more (+7) |
Dystonia, foot
Dystonia, leg |