|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0000597)
|
Ophthalmoparesis |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
3
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
4
|
(HPO:0000298)
|
Mask-like facies |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0000600)
|
Abnormality of the pharynx |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
7
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
8
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
9
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
10
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
11
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
12
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
13
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
14
|
(HPO:0007838)
|
Progressive ptosis |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
16
|
(OMIM)
|
Extraocular movements may be mildly decreased |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Dysphagia, progressive |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Coughing with swallowing |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Pharyngeal muscle weakness |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Decreased gag reflex |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased distal reflexes |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Muscle biopsy shows intranuclear tubulofilamentous inclusions |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Abnormal aggregation of mitochondria |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
No ragged-red fibers |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
28
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|