|
1
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
2
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
3
|
(HPO:0002378)
|
Hand tremor |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
4
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0002398)
|
Degeneration of anterior horn cells |
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
|
7
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0003077)
|
Hyperlipidemia |
|
|
|
|
37 / 7739
|
|
9
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
10
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
11
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
12
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
13
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
14
|
(OMIM)
|
Muscle weakness and atrophy, proximal |
|
|
|
|
5 / 7739
|
|
15
|
(OMIM)
|
Painful muscle cramps |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Neurogenic changes seen on EMG and biopsy |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Fatty replacement in hip muscles and proximal muscles of the lower limb seen on MRI |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Bulbar symptoms may occur (less common) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Loss of anterior horn cells |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Loss of dorsal root ganglion cells |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Loss of myelinated fibers in spinal cord roots |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
TFG- and TDP43-positive intraneuronal inclusions in some sensory and motor spinal cord neurons |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Axonal motor and sensory neuropathy |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Hypo- or areflexia |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Mild loss of touch and temperature |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
More severe loss of position and vibration |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Tetraplegia in advanced disease |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Loss of peripheral nerve axons |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Axonal degeneration seen on nerve conduction studies |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
31
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
32
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|