|
1
|
(HPO:0003473)
|
Fatigable weakness |
|
|
|
|
39 / 7739
|
|
2
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
3
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
4
|
(HPO:0100522)
|
Thymoma |
|
|
|
|
5 / 7739
|
|
5
|
(OMIM)
|
Absence of ptosis |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Absence of ophthalmoparesis |
|
|
|
|
2 / 7739
|
|
7
|
(OMIM)
|
Muscle biopsy shows type 2 fiber atrophy |
|
|
|
|
6 / 7739
|
|
8
|
(OMIM)
|
Upper and lower limb involvement |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
EMG shows myogenic pattern with decreased motor unit potential amplitude |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Shortened duration of motor unit potentials |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Single nerve fiber EMG shows increased jitter (impaired neuromuscular transmission) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
EMG shows decremental compound motor action potential (CMAP) response to repetitive nerve stimulation |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Associated with autoimmune disorders (e.g., diabetes mellitus, thyroiditis, pernicious anemia, vitiligo) |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Acetylcholine receptor (AChR) autoantibodies are found in a subset of patients |
|
|
|
|
1 / 7739
|