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