|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0002960)
|
Autoimmunity |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
5
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
6
|
(HPO:0003326)
|
Myalgia |
Occasional [Orphanet]
|
|
|
|
143 / 7739
|
|
7
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
8
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
9
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
10
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
11
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
12
|
(HPO:0009071)
|
Inflammatory myopathy |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Muscle atrophy, especially quadriceps and forearm muscles |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Muscle biopsy shows inflammation with T cells |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Congophilic inclusions |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
20
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
21
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|