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