|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
4
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
|
|
27 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003438)
|
Absent Achilles reflex |
|
|
|
|
9 / 7739
|
|
7
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
8
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0003555)
|
Muscle fiber splitting |
|
|
|
|
11 / 7739
|
|
10
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
11
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
|
|
15 / 7739
|
|
12
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0003810)
|
Late-onset distal muscle weakness |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0008376)
|
Nasal, dysarthic speech |
|
|
|
|
8 / 7739
|
|
15
|
(OMIM)
|
Distal muscle weakness occurs later |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
17
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
18
|
(OMIM)
|
Muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Increased CK-MB |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
22
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
23
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|