Hu, 2013: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
4
|
21
|
n.a.
|
-Muscle weakness (ictal)
Diplopia Ataxia Gait ataxia Tremor (any or unspecified) Diplopia (ictal) Vomiting Vomiting (ictal) Nystagmus (ictal) -Gait ataxia (interictal) -Gait ataxia (ictal) Ataxia (ictal) Nausea -Tremor (ictal) Muscle weakness Dysarthria Nystagmus Dysarthria (ictal) Show more (+15) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
35
|
54
|
n.a.
|
Emotional stress trigger
Muscle weakness Myokymia Physical stress trigger Gait ataxia -Gait ataxia (ictal) Dysarthria Visual blurring Nystagmus Seizures Nausea Ataxia Dystonia (any or unspecified) Vomiting Migraine Ataxia (ictal) Headache Hyperhidrosis Show more (+15) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
5
|
16
|
n.a.
|
Vomiting
Muscle weakness Gait ataxia Dysarthria Migraine -Gait ataxia (ictal) Ataxia (ictal) Ataxia Nausea Show more (+6) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
12
|
47
|
n.a.
|
Vertigo
Ataxia Ataxia (ictal) Gait ataxia -Gait ataxia (ictal) Dysarthria Nausea Vomiting Show more (+5) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
4
|
25
|
n.a.
|
Gait ataxia
Vertigo Ataxia (ictal) Diplopia Tremor (any or unspecified) Dysarthria Muscle weakness -Gait ataxia (ictal) Ataxia Emotional stress trigger Physical stress trigger Myokymia Show more (+9) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
5
|
74
|
n.a.
|
Dysarthria
Nausea -Gait ataxia (ictal) Ataxia (ictal) Vomiting Ataxia Nystagmus Myokymia Gait ataxia Show more (+6) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
7
|
21
|
n.a.
|
Dysarthria
Gait ataxia Ataxia (ictal) Myokymia Ataxia -Gait ataxia (ictal) Vertigo Diplopia Physical stress trigger Tinnitus Hyperhidrosis Headache Show more (+9) |
n.a.
|