PMC5794354_01
(A) Initial T1-weighted muscle MRI of patient A (51-year-old, CTG repeat 650). (B) Follow-up muscle MRI of patient A performed 5 years after presentation. (C) Initial T1-weighted muscle MRI of patient B (55-year-old, CTG repeat 150). (D) Follow-up muscle MRI of patient B performed 5 years after presentation. AddL = adductor longus, AddM = adductor magnus, BF = biceps femoris, Bi = biceps, Br = brachioradialis, CTG = cytosine-thymine-guanine, Del = deltoid, GL = lateral head of gastrocnemius, GM = medial head of gastrocnemius, Gmax = gluteus maximus, Gmed = gluteus medius, Gmin = gluteus minimus, Gr = gracilis, ISP = infraspinatus, PL = peroneus longus, RF = rectus femoris, Sm = semimembranosus, Sol = soleus, Sr = sartorius, SSc = Subscapularis, St = semitendinosus, TA = tibialis anterior, TFL = tensor fascia latae, TP = tibialis posterior, Tr = triceps, VI = vastus intermidius, VL = vastus lateralis, VM = vastus medialis.
medi-97-e9379-g001.jpg
PMC5794354_02_medi-97-e9379-g001.jpg
F1
The patient only had finger flexor weakness (grade 3), and her 6 MWT result was 516 m at the time of the initial muscle MRI (Fig. 1C). After 5 years, a follow-up muscle MRI was performed (Fig. 1D), and the patient showed aggravated muscle weakness, ankle dorsiflexor weakness (grade 4), and a decreased 6 MWT result of 332.5 m.
PMC5794354_02
(A) Initial T1-weighted muscle MRI of patient A (51-year-old, CTG repeat 650). (B) Follow-up muscle MRI of patient A performed 5 years after presentation. (C) Initial T1-weighted muscle MRI of patient B (55-year-old, CTG repeat 150). (D) Follow-up muscle MRI of patient B performed 5 years after presentation. AddL = adductor longus, AddM = adductor magnus, BF = biceps femoris, Bi = biceps, Br = brachioradialis, CTG = cytosine-thymine-guanine, Del = deltoid, GL = lateral head of gastrocnemius, GM = medial head of gastrocnemius, Gmax = gluteus maximus, Gmed = gluteus medius, Gmin = gluteus minimus, Gr = gracilis, ISP = infraspinatus, PL = peroneus longus, RF = rectus femoris, Sm = semimembranosus, Sol = soleus, Sr = sartorius, SSc = Subscapularis, St = semitendinosus, TA = tibialis anterior, TFL = tensor fascia latae, TP = tibialis posterior, Tr = triceps, VI = vastus intermidius, VL = vastus lateralis, VM = vastus medialis.
medi-97-e9379-g001.jpg
PMC5794354_02_medi-97-e9379-g001.jpg
F1
The patient only had finger flexor weakness (grade 3), and her 6 MWT result was 516 m at the time of the initial muscle MRI (Fig. 1C). After 5 years, a follow-up muscle MRI was performed (Fig. 1D), and the patient showed aggravated muscle weakness, ankle dorsiflexor weakness (grade 4), and a decreased 6 MWT result of 332.5 m.