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, limb
Dystonia, cervical Dystonia (any or unspecified) Dystonia, arm Delayed speech and language development Dystonia, foot Anarthria Global developmental delay Dystonia, oromandibular Dysmorphic features Dystonia, generalized Short stature Dystonia, laryngeal Dystonia, axial Hyperreflexia Show more (+12) |
n.a.
|
|
Yes
|
♂
|
C
|
VEN
|
6
|
10
|
n.a.
|
Dystonia, limb
Dystonia (any or unspecified) Cognitive impairment Delayed speech and language development Dysmorphic features Hyperreflexia Dystonia, generalized Short stature Dystonia, axial Show more (+6) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
13
|
16
|
n.a.
|
n.a.
|
||
Yes
|
♀
|
C
|
ITA
|
6
|
18
|
n.a.
|
Short stature
Dystonia, axial Dystonia (any or unspecified) Dystonia, limb Dystonia, foot Dystonia, leg Cognitive impairment Dystonia, hand Hyperreflexia Dystonia, cervical Dystonia, arm Dysphonia Dystonia, laryngeal Dystonia, generalized Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
6
|
22
|
n.a.
|
Dystonia, oromandibular
Dystonia, axial Dysmorphic features Delayed speech and language development Dystonia, lower face Dystonia, limb Short stature Dystonia, generalized Dystonia, foot Dystonia, craniofacial Dystonia (any or unspecified) Show more (+8) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
5
|
35
|
n.a.
|
Dystonia, limb
Dysarthria Dystonia, craniofacial Dystonia, foot Dystonia, generalized Hyperreflexia Dystonia, arm Short stature Dystonia, hand Dystonia, oromandibular Dystonia, axial Dystonia, lower face Dystonia (any or unspecified) Dystonia, laryngeal Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
10
|
24
|
n.a.
|
Dystonia, craniofacial
Dystonia, lower face Dystonia, limb Dystonia, generalized Dystonia, oromandibular Dystonia, axial Dystonia (any or unspecified) Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
4
|
30
|
n.a.
|
Dystonia, axial
Dystonia, foot Dystonia, generalized Dystonia (any or unspecified) Dysmorphic features Myoclonus Dystonia, cervical Dystonia, limb Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
3
|
22
|
n.a.
|
Dystonia, axial
Dysmorphic features Dystonia, generalized Dystonia (any or unspecified) Cognitive impairment Dystonia, foot Dystonia, limb Short stature Show more (+5) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
4
|
25
|
n.a.
|
Dystonia, arm
Dystonia, hand Dystonia (any or unspecified) Dystonia, laryngeal Dystonia, leg Short stature Dystonia, limb Hyperreflexia Dystonia, cervical Dystonia, axial Dystonia, lower face Dystonia, generalized Dystonia, foot Dystonia, oromandibular Dystonia, craniofacial Show more (+12) |
n.a.
|