Carecchio, 2019: Overview of all reported DYT-KMT2B patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
7
|
44
|
n.a.
|
Dystonia, arm
Dystonia (any or unspecified) Anarthria Dystonia, oromandibular Dysmorphic features Delayed speech and language development Dystonia, cervical Dystonia, axial Dystonia, generalized Hyperreflexia Short stature Dystonia, foot Dystonia, limb Dystonia, laryngeal Global developmental delay Show more (+12) |
n.a.
|
|
Yes
|
♂
|
C
|
VEN
|
6
|
10
|
n.a.
|
Hyperreflexia
Dysmorphic features Dystonia, limb Dystonia (any or unspecified) Short stature Delayed speech and language development Dystonia, generalized Dystonia, axial Cognitive impairment Show more (+6) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
13
|
16
|
n.a.
|
n.a.
|
||
Yes
|
♀
|
C
|
ITA
|
6
|
18
|
n.a.
|
Dystonia, laryngeal
Dystonia, hand Dystonia, generalized Dystonia (any or unspecified) Dystonia, cervical Dystonia, foot Dysphonia Hyperreflexia Dystonia, arm Dystonia, limb Cognitive impairment Short stature Dystonia, leg Dystonia, axial Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
6
|
22
|
n.a.
|
Dysmorphic features
Short stature Dystonia, axial Dystonia, lower face Dystonia, craniofacial Dystonia, oromandibular Dystonia, limb Dystonia, generalized Dystonia, foot Delayed speech and language development Dystonia (any or unspecified) Show more (+8) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
5
|
35
|
n.a.
|
Dystonia, foot
Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, axial Dystonia, laryngeal Dystonia, lower face Dystonia, limb Dystonia, oromandibular Dystonia, arm Dystonia, generalized Hyperreflexia Dystonia, hand Short stature Dysarthria Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
10
|
24
|
n.a.
|
Dystonia, oromandibular
Dystonia, axial Dystonia, lower face Dystonia, generalized Dystonia, limb Dystonia, craniofacial Dystonia (any or unspecified) Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
4
|
30
|
n.a.
|
Dysmorphic features
Dystonia, limb Dystonia, axial Dystonia (any or unspecified) Dystonia, cervical Myoclonus Dystonia, generalized Dystonia, foot Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
3
|
22
|
n.a.
|
Dystonia, foot
Dystonia, axial Dystonia, generalized Dysmorphic features Short stature Dystonia (any or unspecified) Dystonia, limb Cognitive impairment Show more (+5) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
4
|
25
|
n.a.
|
Dystonia, axial
Dystonia, generalized Hyperreflexia Dystonia, limb Dystonia, arm Dystonia, leg Dystonia, hand Short stature Dystonia (any or unspecified) Dystonia, foot Dystonia, oromandibular Dystonia, craniofacial Dystonia, cervical Dystonia, laryngeal Dystonia, lower face Show more (+12) |
n.a.
|