|
1
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
2
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
3
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
4
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
5
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
7
|
(OMIM)
|
Weakness of the extensor muscles of the hands (initially) |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Weakness of all intrinsic hand muscles (later) |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Weakness of the anterior tibial muscle and toe extensors |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
11
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
12
|
(OMIM)
|
Myopathic changes seen muscle biopsy |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
15
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|