|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001337)
|
Tremor |
rare [HPO:skoehler]
|
|
|
|
200 / 7739
|
|
4
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
6
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
7
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
8
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
10
|
(HPO:0008981)
|
Calf muscle hypertrophy |
rare [HPO:skoehler]
|
|
|
|
28 / 7739
|
|
11
|
(OMIM)
|
Painful muscle cramps |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Muscle weakness, proximal and distal, affecting upper and lower limbs |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Muscle atrophy, mild |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Neurogenic changes seen on EMG |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Signs of denervation seen on biopsy |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Secondary myopathic changes |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Lower motor neuron disease affecting upper and lower limbs |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Distal sensory impairment, mild (in some patients) |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
20
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
21
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|