Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy

Abstract

BackgroundIn Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination. Our aim was to evaluate the pattern and degree of involvement of upper girdle muscles in FSHD compared with other muscle diseases with scapular girdle impairment.MethodsWe propose an MRI protocol evaluating neck and upper girdle muscles. One hundred-eight consecutive symptomatic FSHD patients and 45 patients affected by muscular dystrophies and myopathies with prominent upper girdle involvement underwent this protocol. Acquired scans were retrospectively analyzed.ResultsThe trapezius (100% of the patients) and serratus anterior (85% of the patients) were the most and earliest affected muscles in FSHD, followed by the latissimus dorsi and pectoralis major, whilst spinati and subscapularis (involved in less than 4% of the patients) were consistently spared even in late disease stages. Asymmetry and hyperintensities on short-tau inversion recovery (STIR) sequences were common features, and STIR hyperintensities could also be found in muscles not showing signs of fatty replacement. The overall involvement appears to be disease-specific in FSHD as it significantly differed from that encountered in the other myopathies.ConclusionsThe detailed knowledge of single muscle involvement provides useful information for correctly evaluating patients' motor function and to set a baseline for natural history studies. Upper girdle imaging can also be used as an additional tool helpful in supporting the diagnosis of FSHD in unclear situations, and may contribute with hints on the currently largely unknown molecular pathogenesis of this disease.

Muscle MRI in neutral lipid storage disease (NLSD)

“…In the arms, the anterior compartment is markedly involved. By contrast sternocleidomastoid, pectoralis minor and major and triceps brachii are constantly spared in all cases and sometimes appear to be hypertrophied, differently from other reported myopathies [30]. Taken together, this combination of muscle involvement in lower and upper limbs composes a constant pattern and represents a signature of NLSD-M in all stages of the disease.…”

Clinical Muscle Testing Compared with Whole-Body Magnetic Resonance Imaging in Facio-scapulo-humeral Muscular Dystrophy

“…The shoulder girdle muscles are smaller and run rather horizontally; such muscles are covered poorly in an MRI protocol consisting of axial and discontinuous slices and therefore are more difficult to analyse. Tasca et al [34] describe in a recent MRI study on the upper extremities without clinical correlation in 108 patients with FSHD that trapezius und serratus anterior muscles are most affected in MRI. Rijken et al showed in their whole-body muscle-CT-based study a similar pattern of muscular affection compared with this study.…”

“…Correspondingly, Reilich et al [13] proposed to consider FSHD as a spectrum disorder, especially when histopathology shows vacuolar myopathy. Tasca et al [34] proposed a disease-specific pattern of muscular affection in FSHD.…”

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.…”