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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
  1. Patient #3, D/BMD-like, was too young to be assigned to either DMD-like or severe BMD-like phenotypes. DCM: dilated cardiomyopathy, MR: mental retardation.