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. 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. 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. 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…
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….
© Springer-Verlag London Ltd. 2017Hadi Manji, Chris Turner and Matthew R. B. Evans (eds.)Neuromuscular Disease 10.1007/978-1-4471-2389-7_37 37. The Less Aggressive and Less Common Cousin Dipa L. Raja Rayan1 and Chris Turner1 (1) MRC Centre for Neuromuscular Diseases, National Hospital for…
Anti-GM1 IgG Antibody Negative Titre 1 in 1000 Anti-GD1b IgM Antibody Positive Titre 1 in 20,000 Cerebrospinal Fluid <1 WBC/mm3 Total Protein 0.66 g/L (0.13–0.4) Glucose 4.0 mmol/L (2.2–4.2) (matched…
Fig. 36.1 Tongue myotonia following percussion Investigations Her CK was normal. EMG demonstrated frequent myotonic potentials with mild myopathic changes. An overnight sleep study showed significant desaturations throughout the night,…
Amplitude (μV) Onset latency (ms) Peak latency (ms) Conduction velocity m/s Right Median (F3-wrist) 8.0 2.5 3.2 50 Right Ulnar (F5-wrist) 7.0 2.1 2.1 52.5 Right Radial 1.3 –…
Amplitude (μV) Onset latency (ms) Peak latency (ms) Conduction velocity m/s Right Median (F3-wrist) 3.0 3.9 4.4 42.5 Right Ulnar (F5-wrist) 5 2.8 3.3 46.5 Right Radial (forearm-wrist) 15…
