|
1
|
(HPO:0000597)
|
Ophthalmoparesis |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
2
|
(HPO:0002486)
|
Myotonia |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
3
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
4
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
8
|
(HPO:0003457)
|
EMG abnormality |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
9
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
10
|
(HPO:0100749)
|
Chest pain |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0003394)
|
Muscle cramps |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
12
|
(HPO:0003552)
|
Muscle stiffness |
|
|
|
|
23 / 7739
|
|
13
|
(HPO:0010307)
|
Stridor |
|
|
|
|
19 / 7739
|
|
14
|
(OMIM)
|
Apnea, episodic, neonatal |
|
|
|
|
6 / 7739
|
|
15
|
(OMIM)
|
Laryngospasm, neonatal |
|
|
|
|
4 / 7739
|
|
16
|
(OMIM)
|
Myotonia, potassium-sensitive (may be responsive to acetazolamide) |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Muscle weakness usually does not occur |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Cold sensitivity has been reported |
|
|
|
|
4 / 7739
|
|
19
|
(OMIM)
|
EMG in myotonia permanens shows continuous myotonic activity |
|
|
|
|
4 / 7739
|
|
20
|
(OMIM)
|
Serum creatine kinase may be increased |
|
|
|
|
6 / 7739
|
|
21
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|