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