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
Dysphonia Dysmorphic features Dystonia (any or unspecified) Dystonia, laryngeal Dystonia, leg Cognitive impairment Dystonia, generalized Mild global developmental delay Dystonia, foot Dystonia, limb Dysarthria Show more (+9) |
Dystonia, leg
Dystonia, foot |
|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
18
|
n.a.
|
Dystonia, limb
Short stature Dysphonia Dysarthria Dystonia, leg Dysmorphic features Cognitive impairment Dystonia, laryngeal Dystonia, generalized Dystonia (any or unspecified) Show more (+7) |
Dystonia, leg
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
9
|
19
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, laryngeal Dystonia, leg Dystonia, generalized Dysmorphic features Dystonia, limb Anxiety Dysphonia Dystonia, arm Cognitive impairment Myoclonus Depression Dystonia, hand Show more (+10) |
Dystonia, arm
Dystonia, hand |
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
20
|
n.a.
|
Microcephaly
Dystonia (any or unspecified) Motor delay Dystonia, generalized Cognitive impairment Dystonia, limb Delayed speech and language development Global developmental delay Dysmorphic features Dystonia, leg Dystonia, foot Show more (+8) |
Dystonia, leg
Dystonia, foot |
|
Yes
|
♀
|
n.a.
|
n.a.
|
6
|
27
|
n.a.
|
Dystonia (any or unspecified)
Short stature Dystonia, tongue Dystonia, laryngeal Dystonia, leg Dystonia, craniofacial Anarthria Dystonia, generalized Dystonia, limb Dysmorphic features Dysarthria Dystonia, foot Show more (+9) |
Dystonia, leg
Dystonia, foot |
|
Yes
|
♂
|
n.a.
|
n.a.
|
8
|
8
|
n.a.
|
Dysmorphic features
Retrocollis Dystonia, jaw Dystonia (any or unspecified) Dystonia, craniofacial Dystonia, cervical Dystonia, focal Dystonia, laryngeal Show more (+5) |
Dystonia, jaw
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
3
|
9
|
No
|
Dysphonia
Dystonia, laryngeal Dysmorphic features Dystonia, limb Delayed speech and language development Mild global developmental delay Dysarthria Dystonia (any or unspecified) Global developmental delay Dystonia, leg Cognitive impairment Dystonia, foot Dystonia, generalized Show more (+10) |
Dystonia, leg
Dystonia, foot |
|
Yes
|
♀
|
n.a.
|
n.a.
|
8
|
19
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, limb Dysarthria Torticollis Dysmorphic features Dystonia, generalized Dystonia, foot Dysphonia Dystonia, cervical Dystonia, laryngeal Dystonia, leg Show more (+8) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♂
|
n.a.
|
n.a.
|
8
|
11
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, arm Dystonia, generalized Dysphonia Dysmorphic features Tremor (any or unspecified) Motor delay Dystonia, hand Dysarthria Dystonia, limb Dystonia, laryngeal Dystonia, leg Cognitive impairment Show more (+10) |
Dystonia, arm
Dystonia, hand |
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
17
|
n.a.
|
Dystonia, laryngeal
Dystonia, foot Dysmorphic features Dysarthria Dystonia, leg Dystonia, generalized Dystonia, limb Short stature Dysphonia Dystonia (any or unspecified) Show more (+7) |
Dystonia, foot
Dystonia, leg |