|
1
|
(HPO:0002486)
|
Myotonia |
|
|
|
|
29 / 7739
|
|
2
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
3
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
4
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
5
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
6
|
(HPO:0008994)
|
Proximal muscle weakness in lower limbs |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|
|
8
|
(OMIM)
|
No cardiac involvement |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
By fourth decade, many patients need help with ambulation |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Muscle atrophy appears later in disease course |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Some patients become wheelchair-dependent |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
EMG shows myotonic discharges in the absence of clinical myotonia |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Muscle biopsy shows sarcoplasmic or subsarcolemmal vacuoles in muscle fibers |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Vacuoles are autophagocytic and contain granular and membranous cellular debris |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Vacuoles appear to be exocytosing material at the cell surface |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Biopsy shows deposition of complement proteins C5b-9 of the membrane attack complex on muscle fibers |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Increased perisarcolemmal calcium deposition |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Vacuolated muscle fibers show reduplication of the basement membrane |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
No muscle fiber necrosis |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Normal alpha-glucosidase or acid maltase activity (GAA, 606800) |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
No mental retardation |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
24
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
25
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|