|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0001337)
|
Tremor |
Occasional [Orphanet]
|
|
|
|
200 / 7739
|
|
4
|
(HPO:0001063)
|
Acrocyanosis |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
7
|
(HPO:0002715)
|
Abnormality of the immune system |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
8
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
9
|
(HPO:0100022)
|
Abnormality of movement |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
11
|
(HPO:0002817)
|
Abnormality of the upper limb |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
12
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0003484)
|
Upper limb muscle weakness |
|
|
|
|
19 / 7739
|
|
14
|
(HPO:0004305)
|
Involuntary movements |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
15
|
(HPO:0007181)
|
Interosseus muscle atrophy |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Muscle weakness restricted to the upper limb |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Muscle atrophy restricted to the upper limb |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Interosseus muscles involved |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Dorsal and flexor muscles of the forearm are involved |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Amyotrophy affects C5 to T1 myotomes |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy') |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Symptoms are progressive for a few years, and then become stationary |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Usually a unilateral disorder |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
A subset of patients develop bilateral weakness |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
A subset of patients have aggravation on cold exposure ('cold paresis') |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
EMG shows fasciculations |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
EMG shows neurogenic changes consistent with denervation |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
EMG shows fibrillations |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Minipolymyoclonus |
|
|
|
|
1 / 7739
|
|
30
|
(MedDRA:10029176)
|
Nerve conduction studies normal |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Normal sensation |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
MRI may show cervical spinal cord atrophy |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
34
|
(HPO:0003587)
|
Insidious onset |
|
|
|
|
11 / 7739
|
|
35
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|