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