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, axial Dystonia, generalized Dystonia, oromandibular Delayed speech and language development Anarthria Short stature Global developmental delay Dystonia, laryngeal Hyperreflexia Dysmorphic features Dystonia, cervical Dystonia (any or unspecified) Dystonia, limb Dystonia, foot Show more (+12) |
n.a.
|
|
Yes
|
♂
|
C
|
VEN
|
6
|
10
|
n.a.
|
Dystonia, limb
Hyperreflexia Delayed speech and language development Short stature Dystonia, generalized Dystonia, axial Dysmorphic features Dystonia (any or unspecified) 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, arm Dystonia, generalized Dysphonia Dystonia, leg Dystonia, hand Dystonia, axial Cognitive impairment Dystonia, cervical Dystonia, limb Dystonia, foot Dystonia (any or unspecified) Short stature Hyperreflexia Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
6
|
22
|
n.a.
|
Delayed speech and language development
Dystonia, foot Dystonia, generalized Dystonia, oromandibular Dystonia, limb Dystonia (any or unspecified) Short stature Dystonia, lower face Dystonia, craniofacial Dysmorphic features Dystonia, axial Show more (+8) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
5
|
35
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, axial Dystonia, laryngeal Dystonia, generalized Dystonia, foot Dystonia, lower face Dystonia, limb Hyperreflexia Short stature Dystonia, craniofacial Dystonia, arm Dysarthria Dystonia, hand Dystonia, oromandibular Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
10
|
24
|
n.a.
|
Dystonia, generalized
Dystonia, oromandibular Dystonia, axial Dystonia, lower face Dystonia, limb Dystonia (any or unspecified) Dystonia, craniofacial Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
4
|
30
|
n.a.
|
Dystonia, cervical
Dystonia, axial Dystonia, foot Dystonia (any or unspecified) Dystonia, limb Myoclonus Dysmorphic features Dystonia, generalized Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
3
|
22
|
n.a.
|
Dystonia, foot
Dystonia, limb Dystonia (any or unspecified) Short stature Dystonia, axial Cognitive impairment Dysmorphic features Dystonia, generalized Show more (+5) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
4
|
25
|
n.a.
|
Dystonia, craniofacial
Dystonia, arm Dystonia, leg Short stature Dystonia, limb Dystonia (any or unspecified) Dystonia, axial Dystonia, generalized Hyperreflexia Dystonia, foot Dystonia, laryngeal Dystonia, cervical Dystonia, oromandibular Dystonia, lower face Dystonia, hand Show more (+12) |
n.a.
|