|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Occasional [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0002900)
|
Hypokalemia |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
3
|
(HPO:0002607)
|
Bowel incontinence |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
4
|
(HPO:0003198)
|
Myopathy |
Occasional [Orphanet]
|
|
|
|
151 / 7739
|
|
5
|
(HPO:0003326)
|
Myalgia |
Frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
6
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
10
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
11
|
(HPO:0100749)
|
Chest pain |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
12
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
13
|
(HPO:0003394)
|
Muscle cramps |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
14
|
(HPO:0000597)
|
Ophthalmoparesis |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
15
|
(HPO:0002902)
|
Hyponatremia |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
16
|
(HPO:0002486)
|
Myotonia |
Frequent [Orphanet]
Typical [HPO:probinson]
|
|
|
|
29 / 7739
|
|
17
|
(HPO:0100021)
|
Cerebral palsy |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
18
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
19
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
20
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
21
|
(HPO:0002153)
|
Hyperkalemia |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
22
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
23
|
(HPO:0002047)
|
Malignant hyperthermia |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
|
24
|
(HPO:0003752)
|
Episodic flaccid weakness |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0004305)
|
Involuntary movements |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
26
|
(HPO:0007215)
|
Periodic hyperkalemic paralysis |
|
|
|
|
3 / 7739
|
|
27
|
(OMIM)
|
Flaccid weakness or paralysis, episodic attacks |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Muscle weakness is predominantly of extremities and tongue |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Attacks precipitated by rest after exercise |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Attacks precipitated by cold temperature |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Attacks precipitated by potassium |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Myotonia is present in majority of cases |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Electrophysiologic studies show abnormal inactivation and delayed repolarization of the SCN4A sodium channel |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Myopathic findings on biopsy have been occasionally reported |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Hyperkalemia during attacks |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0012719)
|
Functional abnormality of the gastrointestinal tract |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
37
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
38
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
39
|
(HPO:0000763)
|
Sensory neuropathy |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
40
|
(HPO:0100613)
|
Death in early adulthood |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
|
41
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
42
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|