PMC9628801_01
PMC9628801_02
Time function tests and CK levels during follow-up. A) creatine kinase value (U/L) at different follow-up visits; B) 6 minute walk test results (meters) at different follow-up visits; C) North Star Ambulatory Assessment (score) at different follow-up visits; D) time taken to run/walk 10 meters (seconds) at different follow-up visits; E) time taken to climb 4 stairs (seconds) at different follow-up visits; F) time taken to stand from supine (seconds) at different follow-up visits.
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PMC9628801_03_am-2022-03-121-g001.jpg
fig001
Interestingly, the CK blood levels decreased to 6000-7000 U/L, at last follow-up visits (Fig. 1).
Muscle MRI. Muscle MRI findings performed at the age of 12 years and 3 months. (A,C,E) Axial turbo spin echo T2 weighted (w), and (B,D,F) short tau inversion recovery (STIR) axial images at the level of the lower leg (A,B), thigh (C,D) and pelvic girdle (E,F) are shown. No significant fat substitution or edema is evident at the level of the leg muscles, in which, by contrast, a mild triceps surae hypertrophy can be detected (A,B). At the level of the thigh (C,D) the adductor magnus, vastus lateralis and intermedius show signs of fat substitution bilaterally, without associated muscle edema. At the level of the pelvic girdle the involvement of the glutei is evident with fat substitution (E) and no corresponding edema (F).
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PMC9628801_02_am-2022-03-121-g002.jpg
fig002
At 12 years and 3 months, a muscle MRI was performed that showed hypertrophy of triceps surae and a mild to moderate fat substitution of adductor magnus, vastus lateralis and intermedius (Fig. 2).
PMC9628801_03
Time function tests and CK levels during follow-up. A) creatine kinase value (U/L) at different follow-up visits; B) 6 minute walk test results (meters) at different follow-up visits; C) North Star Ambulatory Assessment (score) at different follow-up visits; D) time taken to run/walk 10 meters (seconds) at different follow-up visits; E) time taken to climb 4 stairs (seconds) at different follow-up visits; F) time taken to stand from supine (seconds) at different follow-up visits.
am-2022-03-121-g001.jpg
PMC9628801_03_am-2022-03-121-g001.jpg
fig001
Interestingly, the CK blood levels decreased to 6000-7000 U/L, at last follow-up visits (Fig. 1).