|
1
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
2
|
(HPO:0002015)
|
Dysphagia |
Very frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
4
|
(HPO:0000712)
|
Emotional lability |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
6
|
(HPO:0000496)
|
Abnormality of eye movement |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
7
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
8
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
9
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
11
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
12
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
13
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
14
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
|
|
27 / 7739
|
|
15
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
16
|
(HPO:0002366)
|
Abnormal lower motor neuron morphology |
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0002425)
|
Anarthria |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
|
19
|
(HPO:0002492)
|
Abnormality of the corticospinal tract |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
21
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
22
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
23
|
(HPO:0005216)
|
Chewing difficulties |
|
|
|
|
6 / 7739
|
|
24
|
(OMIM)
|
Weakness of the facial muscles |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Slow eye movements |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Ocular gaze palsies (onset in second decade) |
|
|
|
|
1 / 7739
|
|
27
|
(MedDRA:10021639)
|
Incontinence |
|
|
|
|
11 / 7739
|
|
28
|
(MedDRA:10004804)
|
Biopsy muscle normal |
|
|
|
|
3 / 7739
|
|
29
|
(OMIM)
|
Normal EMG |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Stiffness of the lower limbs |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Upper limb involvement |
|
|
|
|
4 / 7739
|
|
32
|
(OMIM)
|
Early involvement of the corticospinal pathways |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
No lower motor neuron signs or involvement |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Normal cognition and intellectual function |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
MRI shows atrophy of the motor cortex in older patients |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
MRI shows T2-weighted hyperintensities in the corticospinal tracts and posterior arms of the internal capsule in older patients |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Decreased or absent motor evoked potentials (MEP), indicating dysfunction of the corticospinal tracts |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
39
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
40
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
41
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
42
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
43
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|