|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
|
3
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
5
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
6
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
7
|
(HPO:0003436)
|
Prolonged miniature endplate currents |
|
|
|
|
2 / 7739
|
|
8
|
(HPO:0003443)
|
Decreased size of nerve terminals |
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0003473)
|
Fatigable weakness |
|
|
|
|
39 / 7739
|
|
10
|
(HPO:0003554)
|
Type 2 muscle fiber atrophy |
|
|
|
|
14 / 7739
|
|
11
|
(HPO:0004889)
|
Intermittent episodes of respiratory insufficiency due to muscle weakness |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Type 2 fiber atrophy see on biopsy |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Cervical muscle weakness |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Scapular muscle weakness |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Extensor finger muscle weakness |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Atrophy of affected muscles, especially intrinsic hand muscles |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Chronic fatigable muscles |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Electrophysiologic studies show repetitive compound muscle action potentials (CMAP) in response to single stimulus |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
EMG shows decremental CMAP response to repetitive nerve stimulation |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Increased opening duration of acetylcholine receptor (AChR)-induced ion channels |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Focal degeneration of junctional folds ('honeycombed' appearance) see on muscle biopsy |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Thickened endplate basal lamina seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Decreased size of nerve terminals seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Progressive widening of synaptic clefts that are filled with amorphous debris seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Calcium accumulation in junctional folds seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Secondary loss of AChR from junctional folds seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Absence of acetylcholine receptor (AChR) autoantibodies |
|
|
|
|
8 / 7739
|
|
28
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
31
|
(HPO:0003674)
|
Onset |
|
|
|
|
32 / 7739
|
|
32
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|