PMC6803746_01
Slanted shoulders seen in the proband (a); asymmetric pes cavus in left foot (b); and trapezius and pectoralis atrophy seen in the proband (arrows) (c).
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Upon neurological examination, she presented with slanted shoulders (Figure 1(a)), and asymmetric high arches and hammer toes on the left more than the right (Figure 1(b)). Strength examination (MRC scale) demonstrated trapezius and pectoralis atrophy in the area of her neck pain and weakness (R/L) 0/0 (Figure 1(c)).
Muscle biopsy of the left deltoid.
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Muscle biopsy of the left deltoid done at age 54 was reportedly normal upon repeated discussions; after genetic testing results were positive, the muscle biopsy reading changed slightly with the recognition of a rare atrophic motor unit and a regenerating fiber (Figure 2(a)). The older brother's muscle biopsy showed angulated atrophic fibers, type 1 and type II group atrophy (Figure 2(b)).
1978 letter from grandmother describing "creeping paralysis" (a) and grandmother's exam shaded in at University of Iowa in 1974 depicting a "scapuloperoneal syndrome" (b).
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Further investigation of the family history revealed a strong desire for an answer over multiple generations (Figure 3(a)). Her paternal grandmother had scapuloperoneal weakness with an onset at age 50 (Figure 3(b)).
Family pedigree with features consistent and inconsistent with our patient.
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There was also a very complicated pedigree with variable features (Figure 4).