|
1
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
2
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
3
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
4
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
5
|
(HPO:0200101)
|
Decreased/absent ankle reflexes |
|
|
|
|
4 / 7739
|
|
6
|
(OMIM)
|
Difficulty in toe walking |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Preserved heel standing |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Difficulty rising from a squatting position |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Muscle wasting in lower limbs |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Gastrocnemius and soleus muscles most affected |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Hamstring and quadriceps muscles mildly affected |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Sparing of anterior tibialis muscle |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Muscle weakness in forearm muscles |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Mild muscle atrophy in forearm muscles |
|
|
|
|
1 / 7739
|
|
15
|
(MedDRA:10062556)
|
Grip strength decreased |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Sparing of small hand and finger muscles |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
MRI shows increased signal intensity in affected muscles consistent with fatty infiltration |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Muscle biopsy may show inflammatory changes |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Muscle biopsy shows decreased or absent dysferlin staining |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Fibrillations in affected muscles |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Amyloid deposition in muscle fibers occurs rarely |
|
|
|
|
2 / 7739
|