|
1
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
2
|
(HPO:0001609)
|
Hoarse voice |
|
|
|
|
34 / 7739
|
|
3
|
(HPO:0001739)
|
Abnormality of the nasopharynx |
|
|
|
|
16 / 7739
|
|
4
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
5
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
6
|
(HPO:0002835)
|
Aspiration |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
8
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
10
|
(HPO:0008756)
|
Bowing of the vocal cords |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Pharyngeal muscle weakness |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Vocal cord weakness |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Incomplete closure of the glottis |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Onset of weakness in hands and feet |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Hypophonic, breathy voice |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Wet, gurgling, hoarse voice |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
EMG shows neuropathic or myopathic changes |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Muscle biopsy shows noninflammatory myopathy with rimmed vacuoles and atrophic fibers |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
20
|
(HPO:0000726)
|
Dementia |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
21
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
22
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
23
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
24
|
(HPO:0002127)
|
Abnormal upper motor neuron morphology |
|
|
|
|
15 / 7739
|
|
25
|
(HPO:0002366)
|
Abnormal lower motor neuron morphology |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0002483)
|
Bulbar signs |
|
|
|
|
9 / 7739
|
|
27
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
28
|
(HPO:0002936)
|
Distal sensory impairment |
rare [HPO:skoehler]
|
|
|
|
96 / 7739
|
|
29
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
30
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
31
|
(HPO:0007354)
|
Amyotrophic lateral sclerosis |
|
|
|
|
25 / 7739
|