Table 1 Clinical features of symptomatic carriers of DMD mutations
From: Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
Patient | Age of onset | Phenotype | Presenting symptoms | Age at most recent exam | Clinical symptoms at most recent exam | CK levels (age) | Affected relative |
|---|---|---|---|---|---|---|---|
1 | 2 | DMD-like | Global developmental delay, weakness | 13 | Severe mental retardation, severe weakness, wheelchair-bound at 13, normal echocardiogram | 22055 (13) | no |
2 | 4 | DMD-like | Weakness, calf pseudohypertrophy | 14 | Severe weakness, wheelchair-bound at 10, normal echocardiogram | 12000 (4) | no |
3 | 2 | D/BMD-like | Frequent falls, seizures | 5 | Mild weakness in lower limbs, normal echocardiogram | n/p | no |
4 | 12 | Severe BMD-like | Weakness | 29 | Severe weakness and atrophy | n/p | DMD |
5 | 4 | Severe BMD-like | Exercise intolerance, weakness, poor school performance | 12 | Incomplete Gower's sign, herculean appearance, calf pseudohypertrophy, mild mental retardation | 7678-333 (8–12) | no |
6 | 7 | Severe BMD-like | Asymmetric weakness | 11 | Asymmetric weakness, more severe in shoulder than in pelvic girdle, normal echocardiogram | n/p | no |
7 | 20 | Severe BMD-like | Weakness | 24 | Severe weakness of upper and lower limbs, need a wheelchair for long walks, normal echocardiogram | 1700 (24) | no |
8 | 4 | Severe BMD-like | Frequent falls, weakness | 26 | Severe weakness, walks with mayor difficulties, calf pseudohypertrophy, normal echocardiogram | 5331 (22) | no |
9 | 28 | Mild BMD-like | Asymmetric weakness | 32 | Moderate unilateral weakness of right limbs, normal echocardiogram | 1500 (32) | DMD |
10 | 41 | Mild BMD-like | Weakness, calf pseudohypertrophy | 42 | Mild weakness, asymmetric in shoulder, asymmetric atrophy of posterior leg compartment | 6654 (42) | DMD |
11 | 18 | Mild BMD-like | Myalgia/cramping, calf pseuhypertrophy | 49 | Moderate muscle weakness, normal echocardiogram | 1527 (49) | DMD |
12 | 30 | Mild BMD-like | Myalgia, weakness | 38 | Moderate muscle weakness, normal echocardiogram | 1288 (30) | DMD |
13 | 31 | Mild BMD-like | Finding elevated CK prompted a neurological examination revealing mild weakness | 51 | Moderate asymmetric weakness | 2857 (31) | DMD |
14 | 13 | Mild BMD-like | Detecting weakness in her mother prompted neurological examination finding mild weakness | 33 | Moderate asymmetric weakness, calf pseuhypertrophy | 10530-6950 (13–33) | DMD |
15 | 39 | Mild BMD-like | Frequent falls, myalgia/cramping, weakness | 51 | Moderate asymmetric weakness, more affected in lower limbs, mild non-specific echocardiographic changes and bundle branch block | 1770-590 (43–51) | DMD |
16 | 66 | DCM | Dilated cardiomyopathy with severe ventricular dysfunction | 69 | Dilated cardiomyopathy with no muscle weakness | n/p | DMD |
17 | 74 | DCM | Dilated cardiomyopathy | 77 | Dilated cardiomyopathy with no muscle weakness | n/p | DMD |
18 | 7 | Behavioural issues | Abnormal behaviour, elevated CK levels | 12 | Behavioural abnormalities without mental retardation, no muscle weakness, normal echocardiogram | 3000 (7) | BMD |
19 | 4 | MR | Delayed speech development, abnormal behaviour, elevated CK levels | 8 | Mild mental retardation, no muscle weakness | 1137 (4) | no |
20 | 4 | MR | Learning difficulties, elevated CK levels | 18 | Mild mental retardation, no muscle weakness | 1193 (14) | no |
21 | 31 | Myalgia | Precordial pain, myalgia | 36 | Regular myalgia, no muscle weakness, normal echocardiogram | 897 (36) | DMD |
22 | 33 | Myalgia | Myalgia | 34 | Regular myalgia, no muscle weakness | 450 (34) | DMD |
23 | 17 | Myalgia | Exercise intolerance | 19 | Regular myalgia, no muscle weakness | n/p | no |
24 | 30 | Myalgia | Myalgia | 32 | Regular myalgia, no muscle weakness | n/p | no |