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