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