Table 1 Clinical data of Swiss dysferlinopathy patients
From: Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
Family-patient | Origin (Canton) | Sex/age (years) | Age at onset (years) | Symptoms at onset | CK level (IU/L) | Cardiac ultrasound/ECG | Pulmonary function | EMG |
|---|---|---|---|---|---|---|---|---|
A-1 | Fribourg | M/58 | 23 | Steppage gait | >2.300 | normal/normal | FVC 55 % | n.d. |
A-2 | F/54 | 28 | Difficulty walking on tiptoes | >2.300 | normal/normal | normal | Tibialis anterior muscle: myopathic, fibrillations | |
B-3 | Aargau | F/33 | 15 | Difficulty running | 3.800 | normal/normal | normal | Biceps brachii muscle: myopathic |
C-4 | Schwyz | M/27 | 17 | Difficulty skiing | >23.000 | normal/normal | normal | Vastus lateralis muscle: |
(downhill) and running; | myopathic, fibrillations, | |||||||
leg pain | positive sharp waves | |||||||
C-5 | F/24 | 17 | Difficulty walking on | >15.000 | normal/normal | normal | Tibialis anterior muscle: | |
tiptoes; leg pain | myopathic | |||||||
C-6 | F/31 | blood sample provided | ||||||
for haplotype analysis; | ||||||||
consultation rejected | ||||||||
C-7 | M/16 | 14 | Difficulty toe walking | 46.350 | normal/normal | normal | Vastus lateralis muscle: | |
myopathic; positive | ||||||||
sharp waves | ||||||||
C-8 | F/54 | 16 | Leg weakness | n.d. | n.d. | n.d. | Extensor carpi radialis | |
muscle: myopathic | ||||||||
D-9 | Schwyz | F/45 | 16 | Gowers’ sign | >2.200 | normal/normal | n.d. | Vastus lateralis muscle: |
myopathic; fibrillations, | ||||||||
positive sharp waves | ||||||||
D-10 | F/46 | blood sample provided | ||||||
for haplotype | ||||||||
D-11 | M/48 | analysis; | ||||||
consultation rejected | ||||||||
E-12 | Thurgau | M/28 | 20 | Difficulty jumping, | >10.600 | normal/normal | normal | n.d. (syncope during |
Leg pain | needle insertion) | |||||||
F-13 | Schwyz | M/22 | 21 | Leg weakness | >9.000 | normal/normal | normal | Gastrocnemius muscle: |
myopathic; fibrillations, positive sharp waves |