Blumkin, 2010: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
7
|
n.a.
|
Dysarthria
Tonic upgaze Ataxia, limb Muscular hypotonia Nystagmus Vomiting Cognitive impairment Gait ataxia Cerebellar atrophy Ataxia Tremor (any or unspecified) Hemiplegia Seizures Emotional stress trigger Muscle weakness Show more (+12) |
n.a.
|