|
1
|
(HPO:0000338)
|
Hypomimic face |
|
|
|
|
8 / 7739
|
|
2
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
|
3
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
|
4
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
5
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
7
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
8
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
9
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
10
|
(HPO:0002172)
|
Postural instability |
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0002300)
|
Mutism |
|
|
|
|
28 / 7739
|
|
12
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
13
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
14
|
(OMIM)
|
Facial dystonia |
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
16
|
(OMIM)
|
Bulbar and upper limb symptoms more severe than lower limb symptoms |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Rapid initial onset of symptoms (hours to weeks) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Slow gait |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Onset may be triggered by emotional stress, fever, exercise, exposure to heat |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Symptoms stabilize within 4 weeks |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Most patients remain stable or improve in years after the abrupt onset of symptoms |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Transient mild dystonia may precede abrupt onset of disorder by several years |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Normal brain MRI or CT scan |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Cerebrospinal fluid may show decreased levels of homovanillic acid (HVA) |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
27
|
(HPO:0011462)
|
Young adult onset |
Typical [HPO:probinson]
|
|
|
|
7 / 7739
|