|
1
|
(HPO:0001324)
|
Muscle weakness |
75% [HPO:skoehler]
|
|
|
|
859 / 7739
|
|
2
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
3
|
(HPO:0003326)
|
Myalgia |
11/27 [HPO:probinson]
|
|
|
|
143 / 7739
|
|
4
|
(HPO:0003552)
|
Muscle stiffness |
25/27 [HPO:probinson]
|
|
18337100
|
IBIS
|
23 / 7739
|
|
5
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
15/27 [HPO:probinson]
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0003730)
|
EMG: myotonic runs |
|
|
|
|
2 / 7739
|
|
7
|
(HPO:0003740)
|
Myotonia with warm-up phenomenon |
27/27 [HPO:probinson]
|
|
|
|
2 / 7739
|
|
8
|
(HPO:0008968)
|
Muscle hypertrophy of the lower extremities |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0010548)
|
Percussion myotonia |
26/27 [HPO:probinson]
|
|
18337100
|
IBIS
|
5 / 7739
|
|
10
|
(OMIM)
|
Eyelid myotonia |
|
|
|
|
2 / 7739
|
|
11
|
(MedDRA:10024443)
|
Lid lag |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Tongue myotonia |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0002486)
|
Myotonia |
|
|
|
|
29 / 7739
|
|
14
|
(OMIM)
|
Myotonia is most pronounced in the extremities |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Myotonia improves with continued activity ('warm-up phenomenon') |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Hangrip myotonia |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Transient muscle weakness occur in 75% of patients, particularly in the arms and hands |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
EMG shows spontaneous, repetitive electrical activity ('myotonic runs') |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
21
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|