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