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