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