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