Whole‐body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy

Abstract

Introduction Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. Increasing knowledge of the pathophysiology of FSHD has stimulated interest in developing biomarkers of disease severity. Methods Two groups of MRI scans were analyzed: whole-body scans from 13 subjects with FSHD, and upper and lower extremity scans from 34 subjects with FSHD who participated in the MYO-029 clinical trial. Muscles were scored for fat infiltration and edema-like changes. Fat infiltration scores were compared to muscle strength and function. Results Our analysis reveals a distinctive pattern of both frequent muscle involvement and frequent sparing in FSHD. Averaged fat infiltration scores for muscle groups in the legs correlated with quantitative muscle strength and 10-meter walk times. Discussion Advances in MRI technology allow for the acquisition of rapid, high-quality whole-body imaging in diffuse muscle disease. This technique offers a promising disease biomarker in FSHD and other muscle diseases.

Leg Muscle Involvement in Facioscapulohumeral Muscular Dystrophy: Comparison between Facioscapulohumeral Muscular Dystrophy Types 1 and 2

“…Predominant involvement of the medial gastrocnemius is a common finding in FSHD1; however, in contrast to our findings, the soleus has been reported to be mostly spared [4,7,8,10,11,15] . This is likely to be due to calculated mean values disregarding fatty degeneration in the distal part of this muscle.…”

“…This is likely to be due to calculated mean values disregarding fatty degeneration in the distal part of this muscle. In keeping with previous FSHD1 studies, the tibialis anterior was commonly affected [4,8,10,11] , but the severity of involvement of this muscle was not consistent with overall disease severity. In the thigh, the most frequently involved muscle was the semimembranosus, while the semitendinosus, adductor magnus and long head of biceps femoris were frequently involved but to a more variable degree.…”

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York

“…WBMRI has certain advantages utilizing a continuous table movement to allow sampling of the entire body within a feasible time frame. In this study MRI was scored by a single reviewer looking at T1 and STIR sequences, scoring the fatty infiltration using a modified Mercuri scale and determining asymmetry of fatty infiltration [29]. WBMRI scores were compared to clinical measures including manual and quantitative muscle strength testing and the 10 meter walk/ run time.…”

Long-term follow-up of MRI changes in thigh muscles of patients with facioscapulohumeral dystrophy: a quantitative study

“…In most of the MRI studies conducted in FSHD patients, fat infiltration of the investigated muscles has been evaluated visually using the common ordinal scales including 4 to 5 grades [21][22][23][24][25][26]. In these studies muscles from upper limbs [21], lower limbs [22], both upper and lower limbs [23], or from the whole body have been investigated [24][25][26].…”

“…In these studies muscles from upper limbs [21], lower limbs [22], both upper and lower limbs [23], or from the whole body have been investigated [24][25][26]. Although this qualitative scoring is of interest to determine the pattern of muscle involvement, it has been largely recognized as subjective, reader-dependent and lacking sensitivity due to the limited number of grading possibilities.…”