The DYSF mutations database - List of Phenotypic information


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SymptomSeverity
ability to stand on heelsN
UK
Y
ability to stand on tip toesN
UK
able to climb stairs with or without aidN
Y
Able to sit (Y, N, UK)Y
Able to stand (Y, N, UK)UK
Abnormal ST/T-segment on last ECGN
absolute value of VC3
3,4
3,48
3,54
3,95
4,3
4,35
4,49
4,55
4,71
ND
UK
Acanthosis NigricansN
age at biopsy18
20
21
23
25
28
35
36
41
58
61
ND
age at first use of wheelchair18
23
29
41
45
58
NU
age at investigation21
25
26
28
36
38
44
58
ND
Age at last examination21
23
26
28
30
32
38
40
44
45
46
58
Age at onset14
16
17
19
22
24
25
28
31
33
age at the highest value20
25
26
28
35
36
44
UK
age at the last investigation21
23
26
30
36
40
44
45
46
60
ND
age at the last value12
21
22
23
26
30
31
36
38
44
46
58
age at the lowest value17
30
31
36
38
41
44
58
UK
anterior compartment of the legsN
UK
Y
anterior compartment of the thighsUK
Y
anterior thighs hypodensityN
ND
UK
Y
Y++ respect couturier, droit int
Y+++
Y+++ adductors R only
Y+++ rectus anterior
Yexcept rectus anterior
asymmetry at onsetN
Y
biceps atrophyN
UK
Y
biceps brachii hypodensityN
ND
UK
Y++
biceps brachii R/L3+/3
UK
biceps en boulesN
UK
Y
Biopsy available (Y, N, UK)Y
brachioradialis R/LUK
bulbar weaknessN
UK
calpaïn 30kDa band1
ND
UK
calpaïn 60kDa band1
2
3
ND
calpaïn 94kDa band1
2
3
ND
caveolinUK
caveolin 3UK
CK highest value11,4
16,65
24,8
26,93
41,51
52,85
9,64
92,57
UK
CK last value11,4
13,68
21,03
24,21
28,24
3,2
33,85
43,15
46,46
64,73
7,12
9,5
UK
CK lowest value10,06
13,68
14,82
2,58
24,21
3,2
33,85
9,5
UK
conduction disturbances on ECG and/or holter ECGN
ND
UK
ConsanguinityN
P
Y
Date of biopsy (dd/mm/yyyy)18/02/97
Delayed motor milestonesN
UK
Y
deltoid R/LUK
difficulties in climbing stairsN
UK
Y
difficulties in rising from a chair or from the groundN
UK
Y
difficulties in runningN
UK
Y
difficulties in standing on tip toesN
UK
Disease duration12
15
18
20
4
41
5
7
9
distalN
Y UL
distal atrophy of the ULN
UK
Distal lower limb WastingN
distal wastingN
Y
dysferlin band3
4
ND
dysferlin staining2
3
ND
early* contracturesN
UK
EmerinN
Ethnic origin specifyalgerian
french
iran
italian
maroc
tunisian
facial weaknessN
Fibrosis0
N
UK
Y+
Y++
Y+++
finger extensors R/L4+/3
UK
finger flexors R/L4+/4
UK
Fingers extensors contracturesN
frequent fallsN
UK
Y
gastrocnemius R/L3/3
UK
Generalized muscle hypertrophyN
gluteus atrophyN
UK
Y
gluteus hypodensityN
ND
UK
Y gluteus minimus only
Y+
Y+ gluteus minimus
Y++
Y++ minimus gluteus N maximus and medius gluteus
Y+++
gluteus maximus R/LUK
gluteus medius R/L3/3
UK
Gower's signN
Y
hamstrings R/LUK
hip adductors R/LUK
hyperlordosisN
UK
Y
iliopsoas R/L2/1
UK
inducing factors1
2
3
N
inflammatory changesN
UK
Y+
Y++
infrasupinatus R/LUK
Inguinal herniaUK
is muscle pain exercise relatedN
Y
legs atrophyUK
Y
Legs muscle hypertrophyN
legs posterior compartment hypodensityND
UK
Y
Y+
Y++
Y+++
Y+++ right and left gastrocn Y++ right soleus Y+ left soleus
lobulated fibersN
UK
Y
lobulated type I fibersN
lower limb weaknessN
Y
LVEF on echocardiography65
69
70
72
74
78
80
89
ND
normal
UK
LW on last ECGN
MACUK
Y
MAC deposit on fibers membraneUK
MHC-I1 necrotic and regen fibers
N
UK
Misdiagnosis1
5 amyloid myopathy
N
UK
Motor difficulties in childhood or teenageN
UK
Y
muscle painN
Y
myogenic patternUK
Y
myotilinUK
neck extensorsUK
neck flexorsUK
necrosis, regenerationN
UK
Y+
Y++
Y+++
neurogenic patternN
UK
NG2-CSPUK
ocular weaknessN
onset spine rigidityN
OtherUK
other biopsyN
Y
other conditionsdégénérescence mixoide valve M début à 26 ans
N
Y cerebral palsy
other contracturesN
UK
Y hamstrings and biceps
other current featuresgenu recurvatum, dysferlin gait
genu recurvatum, dysferlin gait, frequent twisted ankles
genu recurvatum, waddling gait
N
severe axial weakness (neck and trunk)
Y brisk patellar reflexes
Y macroglossia, pes cavus, LL neurovegetative troubles
Y neurovegetative troubles in LL
Y scoliosis
other featuresmitochondrial anomalies cox- fibers 5%
N
type I fibers predominant
UK
Y perivascular and interstitial amyloidosis
other imagingN
ND
Y
Other suspected muscular dystrophies7
N
UK
other symptomsexercise related dyspnea and strain
N
strain in walking
Y diff in walking
Y difficulty in jumping
Y difficulty in sport
Y loosing ability to walk
pectoralis R/LUK
peroneus longus R/LUK
posterior compartment of the legsUK
Y
posterior compartment of the thighsN
UK
Y
posterior thighs hypodensityN
ND
UK
Y+
Y+ respect court biceps
Y+++
Presentation at onset1
1, 6 during 5 years
2
3
3, 6 during 5 years
5
UK
proximalN
Y LL
Y UL
proximal wastingN
proximo-distalN
Y LL
Y LL+UL
psoas hypodensityN
ND
UK
Y++
Y+++
quadriceps femoris R/L2/2
UK
Recurrent dislocation of patellaUK
repeated twisted anklesN
rhabdomyolysis: swelling and/or black urinesN
Y
rhomboïd R/LUK
rythm disturbances on ECG and/or holter ECGectopic atrial rythm 86
N
ND
UK
scapular muscles hypodensityN
ND
UK
Y++
Y+++
Y+++ suprasupinatus and subscapular, Y++ infrasupinatus and deltoid
scapular wingingN
UK
seratus anterior R/LUK
shoulder girdle atrophyN
UK
Y
site of biopsybiceps L
deltoid L
ND
peroneus longus and deltoid
quadriceps
quadriceps L
UK
vastus externus
soleus R/L3/3
UK
Spine extensors contracturesY+++
spontaneous activityN
UK
Y
steppageN
still asymptomaticN
sub-scapular R/LUK
suprasupinatus R/LUK
symptom #1++
symptom #2Yes
thighs atrophyUK
Y
tibial anterior compartment hypodensityN
ND
UK
Y++
Y+++
tibialis anterior R/L1/1
UK
time to walk 10 meters6
7
9
NA
UK
toe extensors R/L1/1
à récup
UK
tr statiq rachN
trapezus R/LUK
triceps brachii hypodensityN
ND
UK
triceps brachii R/L3/3
UK
triceps surae contracturesN
UK
Y
trunck extensorsUK
trunck flexorsUK
type I fibers atrophyN
UK
Y
UL abduction amplitude R/L160/160
180/180
45/45
70/70
90/60
90/90
UK
UL antepulsion amplitude R/L160/160
180/180
45/45
70/70
90/60
UK
upper limb weaknessN
Y
VC percentage of the average100
114
75
87
ND
UK
waddling gaitN
Walk before 18 mo (Y, N, UK)UK
walking with aid1
N
walking without aidN
Y
Walton score at last examination3
4
5
6
7
8
wheelchair indoorN
Y
wheelchair outdoorN
Y
wrist extensors R/L5/5
UK
wrist flexors R/L5/5
UK