Neither One nor the Other
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…
A Psychologist with Wrist Drop
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…
Neuromuscular Junction Dysfunction Is Not Always Myasthenic
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…
Praying for an Answer Can Be Helpful
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…
Is It Time to Take the Heat Out of the Problem?
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…
“Back to the Basics”-Never Forget to Look at the Back
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,…
..and the Other Common Cause
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…
Cramps, Weakness and Fasciculations
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….
A Treatable Systemic Muscle Disease
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…
The Less Aggressive and Less Common Cousin
© 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…
