Table 1.
Carrier ID |
Age at examination |
Classification |
Age at onset |
Muscle weakness |
Other signs |
CK levels (U/l) |
Echocardiogram |
Muscle biopsy |
||
---|---|---|---|---|---|---|---|---|---|---|
Age at biopsy | Muscle | Muscle pathology | ||||||||
C1 |
5y8m |
Symptomatic |
2y |
Yes: progressive, proximal, symmetric. |
hCK No running, no jumping, positive Gowers sign |
13430 at 6y |
Normal |
6y |
Quadriceps |
Moderate increase of endomysial fibrous tissue, moderate number of necrotic fibers, mild increase of internal nuclei, moderate number of hypercontracted fibers. |
C2 |
34y |
Symptomatic |
na |
Yes |
hCK |
1050 at 34y |
Normal |
34y |
Tibialis anterior |
Marked fiber size variation, moderate increase of endomysial fibrous tissue, increase of internal nuclei. |
C3 |
4y |
Symptomatic |
4y |
Yes: non progressive, proximal, symmetric. Main districts: limbs, trunk. |
hCK Myalgia |
2200 at 4y3m |
nd |
4y |
Quadriceps |
Rare internal nuclei. |
C4 |
25y |
Symptomatic |
23y |
Yes: progressive, proximal, asymmetric. Main districts: limbs, girdles. |
hCK Calves hypertrophy Positive Gowers sign |
3034 at 25y |
nd |
25y |
Quadriceps |
Marked fiber size variation, marked increase of endomysial fibrous tissue, some necrotic fibers. |
C5 |
43y |
Symptomatic |
43y |
Yes: progressive, proximal, symmetric. Main districts: limb girdles and distal muscles of lower limbs. |
hCK |
933 at 43y |
nd |
43y |
Left deltoid |
Moderate increase of endomysial fibrous tissue, marked fiber size variation, numerous internal nuclei. |
C6 |
27y |
Symptomatic |
11y |
Yes: progressive, proximal, symmetric. Main districts: girdles |
hCK Anserine walking |
714 at 27y |
nd |
27y |
Quadriceps |
Marked fiber size variation, increase of endomysial fibrous tissue, several internal nuclei, some necrotic fibers. |
C7 |
9y |
Symptomatic |
na |
Yes: symmetric, diffuse. |
hCK Calves hypertrophy |
6500 at 2y |
nd |
9y |
Quadriceps |
Moderate fiber size variation, several internal nuclei. |
C8 |
20y |
Asymptomatic |
- |
No |
hCK Calves hypertrophy |
>4000 at 7y |
Normal |
7y |
Quadriceps |
Moderate fiber size variation, hypotrophic fibers and degenerating-regenerating fibers. |
C9 |
34y |
Asymptomatic |
- |
No |
hCK Mild calves hypertrophy |
1654 at 16y |
Normal |
9y |
Quadriceps |
Mild myopathic signs. |
C10 |
35y |
Asymptomatic |
- |
No |
hCK (at 32y and 35y) |
Not reported |
nd |
35y |
Quadriceps |
Moderate fiber size variation. |
C11 |
47y |
Asymptomatic |
- |
No |
hCK |
899 at 47y |
nd |
47y |
Quadriceps |
Fiber size variation with hypertrophic fibers, internal nuclei. |
C12 |
24y |
Asymptomatic |
- |
No |
hCK Calves hypertrophy |
1295 at 24y |
Normal |
24y |
Quadriceps |
Very mild fiber size variation, some internal nuclei. |
C13 |
21y |
Asymptomatic |
- |
No |
hCK Calves hypertrophy |
10800 at 21y |
Left ventricle at the upper limit |
21y |
Quadriceps |
Moderate fiber size variation, increase of endomysial fibrous tissue, numerous internal nuclei, necrotic fibers. |
C14 |
6y |
Asymptomatic |
- |
No |
hCK Myalgia |
4439 at 6y |
Normal |
6y |
Quadriceps |
Fiber type variation, central nuclei, absence of inflammation. |
C15 |
13y |
Asymptomatic |
- |
No |
hCK Learning difficulties |
1732 at 13y |
nd |
13y |
Quadriceps |
Mild fiber size variation, increase in internal nuclei. |
C16 |
17y |
Asymptomatic |
- |
No |
hCK Mild calves hypertrophy |
2700 at 17y |
nd |
3y |
Tibialis anterior |
Dystrophic pattern. |
C17 |
5y |
Asymptomatic |
- |
No |
hCK |
8207 at 2y |
Normal |
2y |
Quadriceps |
Fiber size variation, mild increase of endomysial fibrous tissue, some groups of regenerating fibers. |
C18 | 6y | Asymptomatic | - | No | hCK | 10242 at 6y | Normal | 6y | Quadriceps | Moderate increase of endomysial fibrous tissue, fiber size variation, several internal nuclei, some degenerating fibers. |
hCK: high CK; na: not available; nd: not determined.