Neupsy Key

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,…

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….

  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…

© Springer-Verlag London Ltd. 2017Hadi Manji, Chris Turner and Matthew R. B. Evans (eds.)Neuromuscular Disease 10.1007/978-1-4471-2389-7_25 25. Weakness in an Indian Man Robin Howard1   (1) MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen…

© Springer-Verlag London Ltd. 2017Hadi Manji, Chris Turner and Matthew R. B. Evans (eds.)Neuromuscular Disease 10.1007/978-1-4471-2389-7_22 22. A Patient with an Acute Syndrome, Recovers and Represents Years Later Robin Howard1   (1) MRC Centre for Neuromuscular Diseases, National…

Diagnosis Defect in NMJ Gene Clinical features Treatment Pre-synaptic defect Choline acetyl transferase (Chat) deficiency Failure of ACh re-synthesis or packaging CHAT Recurrent apnoeic spells Impaired pupillary responses Refractory to…

Fig. 21.1 Repeat-primed PCR analysis of hexanucleotide repeat in C9ORF72, in normal and expanded individuals (see Majounie et al. 2012 for details). (a) A normal individual with less than 10…

(1) Department of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK (2) MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK…