Neupsy Key

Fig. 30.1 Bilateral ptosis and external ophthalmoplegia in Kearns-Sayre Syndrome: bilateral partial ptosis (a) with restriction of ocular movements in all directions of gaze as patient attempts to look up…

Fig. 31.1 Quadriceps needle biopsy from a 3 year old boy with Duchenne muscular dystrophy carrying a hemizygous nonsense mutation in exon 32 of the dystrophin gene predicted to cause…

Fig. 28.1 MRI left elbow – T1w (a), T2w (b) and T1 post-gadolinium (c, d). A 10 mm, nodular, minimally enhancing mass is seen to arise from the left posterior…

Fig. 49.1 (a) Repetitive stimulation (RNS) of the accessory nerve at 3/s with recording from trapezius showed a small CMAP amplitude (baseline to negative peak) of 0.9 mV and a…

Fig. 48.1 (a) Muscle MRI demonstrating fatty replacement of most thigh muscles with relative sparing of the sartorius and gracilis (arrows) and a central area of abnormal signal within the…

Fig. 47.1 (a) Muscle MRI showed no abnormalities. (b) Cytochrome c oxidase (COX) staining showed a preserved two-fibre pattern. (c) Electron microscopy showed several fibres with one or more small…

Fig. 46.1 Schematic representation of the genetic mechanisms associated with facioscapulohumeral muscular dystrophy (FSHD). Normal D4Z4 alleles in chromosome 4 have 11 to 100 repeat units. In individuals with FSHD,…

Fig. 39.1 Haematoxylin-Eosin stained section (a) shows marked variation in fibre size with disorganized internal cytoarchitecture in a proportion of the large fibres. NADH histochemical preparation (b) highlights the whorled…

Fig. 15.1 (a, b) Appearance of the right hand 10 years following onset of weakness. There is relative preservation of muscle bulk. Investigations Blood tests were normal, including creatine kinase….

Fig. 40.1 There is an endomysial inflammatory infiltrate with infiltration of non-necrotic fibres by lymphocytes (a, b, arrows). There is variation in fibre size and fibre necrosis (b, *). The…