|
1
|
(HPO:0001308)
|
Tongue fasciculations |
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0002378)
|
Hand tremor |
|
|
|
|
9 / 7739
|
|
3
|
(HPO:0002398)
|
Degeneration of anterior horn cells |
|
|
|
|
14 / 7739
|
|
4
|
(HPO:0002522)
|
Areflexia of lower limbs |
|
|
|
|
16 / 7739
|
|
5
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
6
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
7
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
8
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
|
9
|
(OMIM)
|
Hypertrophy of calves (in 3 of 6 patients) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Muscle weakness, proximal, symmetric (lower limbs more affected than upper limbs) due to motor neuronopathy |
|
|
|
|
5 / 7739
|
|
11
|
(OMIM)
|
EMG shows neurogenic abnormalities |
|
|
|
|
8 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
14
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|