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…
Unsteadiness – Neither Cerebellar Nor Vestibular
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…
A Multisystem Muscle Disorder Needs Monitoring
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,…
Rare as Rocking Horse Droppings
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 –…
A Man with Painful Feet and Hand Ulcers
Fig. 27.1 The patient’s hands showing wasting of small muscles, contraction of finger flexors and a purplish discolouration There was marked distal weakness in the upper and lower limbs bilaterally….
