|
1
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
2
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
3
|
(HPO:0000756)
|
Agoraphobia |
|
|
|
|
4 / 7739
|
|
4
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
5
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
6
|
(HPO:0001045)
|
Vitiligo |
|
|
|
|
13 / 7739
|
|
7
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
8
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0001649)
|
Tachycardia |
|
|
|
|
53 / 7739
|
|
10
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
11
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
12
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
13
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
|
14
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
15
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
16
|
(HPO:0002960)
|
Autoimmunity |
|
|
|
|
78 / 7739
|
|
17
|
(HPO:0003739)
|
Myoclonic spasms |
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0006921)
|
Axial muscle stiffness |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0007066)
|
Proximal limb muscle stiffness |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0007156)
|
Asymmetric limb muscle stiffness |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Muscle stiffness and rigidity, chronic, fluctuating |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Axial muscle stiffness, symmetric |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Limb muscle stiffness is often asymmetric |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Stiff gait |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Lumbar paraspinal rigidity causes exaggerated lumbar lordosis |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Myoclonic spasms, superimposed episodic, severe, painful (characterized by activation of antagonistic muscle pairs, may involve facial muscles) |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Heightened sensitivity to external stimuli |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
EMG shows involuntary continuous motor activity at rest |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Autonomic features may occur |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Specific phobias |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Associated with autoimmune disorders (e.g., diabetes mellitus, thyroiditis, pernicious anemia, vitiligo) |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Associated with autoantibodies to GAD65 (anti-glutamic acid decarboxylase GAD2, 138275) in serum and/or cerebrospinal fluid |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Approximately 60% of patients have anti-GAD65 antibodies |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Associated with serum autoantibodies to GLRA1 (glycine receptor alpha-1 subunit 138491, reported in 1 patient) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Approximately 10% of cases are paraneoplastic |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Paraneoplastic SPS is associated with breast cancer and other malignancies |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Paraneoplastic SPS is associated with autoantibodies to amphiphysin (AMPH, 600418) |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
39
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|