|
1
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
2
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
3
|
(HPO:0002145)
|
Frontotemporal dementia |
|
|
|
|
14 / 7739
|
|
4
|
(HPO:0002357)
|
Dysphasia |
|
|
|
|
33 / 7739
|
|
5
|
(HPO:0002381)
|
Aphasia |
|
|
|
|
27 / 7739
|
|
6
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
7
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
8
|
(HPO:0003418)
|
Back pain |
|
|
|
|
17 / 7739
|
|
9
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
10
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
11
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
12
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
13
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
14
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
15
|
(HPO:0010639)
|
Elevated alkaline phosphatase of bone origin |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Paget disease (in 50% of patients) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Hip pain |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
20
|
(OMIM)
|
Shoulder weakness and atrophy |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Limb weakness and atrophy |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Pelvic girdle weakness and atrophy |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Nonspecific myopathic changes seen on biopsy |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Inclusion body myopathy |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Primary myopathic changes seen on EMG |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Dystrophic neurites |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Ubiquitin-positive intranuclear neuronal inclusions |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
VCP-positive inclusions |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
TDP43-positive inclusions |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
MRI shows frontal and temporal cortical atrophy |
|
|
|
|
1 / 7739
|