|
1
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
2
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
3
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0002411)
|
Myokymia |
|
|
|
|
10 / 7739
|
|
5
|
(HPO:0002486)
|
Myotonia |
|
|
|
|
29 / 7739
|
|
6
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
7
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
|
|
26 / 7739
|
|
8
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
9
|
(HPO:0003552)
|
Muscle stiffness |
|
|
|
|
23 / 7739
|
|
10
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
11
|
(OMIM)
|
Percussion contraction of the tongue (1 family) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Distal muscle weakness and atrophy, upper and lower limbs |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Hang weakness |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
EMG and muscle biopsy shows chronic denervation of the peripheral nerves |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
EMG shows high-frequency spontaneous discharges |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Impaired gait due to peripheral neuropathy |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0007002)
|
Motor axonal neuropathy |
|
|
|
|
17 / 7739
|
|
18
|
(MedDRA:10072359)
|
Neuromyotonia |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Action myotonia |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Hyperexcitability of peripheral nerve fibers |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Distal sensory impairment, mild (in some patients) |
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
24
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|