|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
6
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
7
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
8
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
9
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
10
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
11
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
14
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
15
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
16
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
17
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
19
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
20
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
21
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
|
22
|
(HPO:0008956)
|
Proximal lower limb amyotrophy |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0008964)
|
Nonprogressive muscular atrophy |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Muscle weakness, distal, restricted to the lower limbs |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Muscle weakness, proximal, pelvic girdle (in severe cases) |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Muscle biopsy shows groups of small angulated fibers consistent with denervation |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Type II fiber predominance |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
MRI of the thighs shows fatty atrophy with preservation of the biceps femoris in the lateral compartment |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
MRI of the calves shows fatty atrophy with preservation of the medial gastrocnemius in the posteromedial compartment |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
31
|
(HPO:0003680)
|
Nonprogressive disorder |
|
|
|
|
23 / 7739
|
|
32
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
33
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|