SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness

Figures

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  Fig. 1. Facial muscle weakness and dysmorphic features in SELENON-RM patients. (A) neutral position, showing mild bilateral ptosis. (B) m. frontalis weakness. (C) m. orbicularis oculi weakness. (D) m. risorius weakness. (E) inadequate puckering movements, indicating m. orbicularis ori weakness. (F) inability of neck flexion and lumbar flexion, indicating rigid spine. (G) pseudohypertrophy of the calve musculature. (H) general muscle hypotrophy, most pronounced in the calves and upper legs, and spinal deformity (status after osteosynthesis). (I) scapular winging. Permission for publication of the photographs from all identifiable patients was granted.

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  Fig.2. Median muscle strength according to the MRC grading scale. Median muscle strength (MRC) in neck flexor, neck extensor, deltoid, biceps brachii, triceps brachii, wrist flexor, wrist extensor, finger flexor, finger extensor, iliopsoas, gluteus, quadriceps, hamstrings, foot flexor and foot extensor muscles.

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  Fig. 3. Overview on percentage of MFM-20/32 total score, MiniBEST, PBS and HFMS; the percentage of distance predicted at the 6MWT; the percentage of predicted strength (N) of several muscles; the percentage of sedentary, light, moderate and vigorous activity and the number of counts per day as measured through accelerometry (mean±SD); and the correlation between the MFM-20/32 total score and percentage of sedentary activity. (A) Percentage of MFM-20/32 total score, MiniBEST, PBS and HFMS; and the percentage of distance predicted at the 6MWT. MFM-20/32 was performed by all patients participating in this study. The MiniBEST and PBS were performed by ambulant patients, while the HFMS was only performed by patients who were not able to perform either of the two balance tests (MiniBEST or PBS) due to physical limitations (n = 3). 6MWT included all ambulant patients of 5 years and older that were seen in the hospital (n = 8). (B) Percentage of predicted strength (N) of the neck extensor, biceps brachii, triceps brachii, quadriceps, foot dorsiflexor and foot flexor muscles and the pinch grip. n = the number of patients (each patient having two muscles examined, i.e. left and right side); (C)…

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  Fig. 4. Overview on echogenicity (z-score and Heckmatt score) per muscle. The z-score of the echogenicity (A) and the Heckmatt score (B) in the temporalis, sternocleidomastoid, biceps brachii, flexor carpi radialis, rectus abdominis, rectus femoris, vastus lateralis, tibialis anterior, biceps femoris, gastrocnemius medial head and soleus muscles are shown.

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  Fig. 5. Correlation between MFM-20/32 total score and muscle ultrasound (echogenicity and Heckmatt score). (A) Correlation between the z-score of echogenicity of flexor carpi radialis muscles and the total MFM-20/32 score (Pearson’s correlation, –0.750, p < 0.01). (B) Correlation between Heckmatt score of flexor carpi radialis muscles and the total MFM-20/32 score (Pearson’s correlation, –0.874, p < 0.01). (C) Correlation between Heckmatt score of biceps brachii muscles and the total MFM-20/32 score (Pearson’s correlation, –0.576, p < 0.01). MFM-20/32 = Motor Function Measurement 20/32.