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