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…
© Springer-Verlag London Ltd. 2017Hadi Manji, Chris Turner and Matthew R. B. Evans (eds.)Neuromuscular Disease 10.1007/978-1-4471-2389-7_19 19. Preserve Your Health, Not Your Vegetables Sanjeev Rajakulendran1 and Dimitri M. Kullmann2 (1) Department of Neurology, National Hospital for Neurology and Neurosurgery,…
(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…
© Springer-Verlag London Ltd. 2017Hadi Manji, Chris Turner and Matthew R. B. Evans (eds.)Neuromuscular Disease 10.1007/978-1-4471-2389-7_18 18. A Lady with Head Drop Sanjeev Rajakulendran1 and Dimitri M. Kullmann2 (1) Department of Neurology, National Hospital for Neurology and Neurosurgery, Queen…
Fig. 13.1 Patient’s lower limbs showing severe distal wasting involving both the anterior and posterior aspects of the legs Investigations Laboratory tests including serum lead and white cell enzymes were…
Fig. 12.1 Fundal photographs showing haemorrhagic papilloedema typical of POEMS syndrome (cheese and tomato appearance) Examination of the limbs revealed distal weakness and wasting in the upper and lower limbs….
© Springer-Verlag London Ltd. 2017Hadi Manji, Chris Turner and Matthew R. B. Evans (eds.)Neuromuscular Disease 10.1007/978-1-4471-2389-7_10 10. A Woman with Burning Hands Mohamed Mahdi-Rogers1 , Matilde Laurá2 and Mary M. Reilly2 (1) Department of Neurology, King’s College Hospital, London, UK (2)…
Right Left μV m/s μV m/s Radial (forearm-wrist) 22 53 Median (F2-wrist) 5 48 (post warming) 6 41 (not warmed) Median (F3-wrist) 9 48 5 43 Median (palm-wrist) 14…
Fig. 4.1 Sural nerve biopsy from a case of IgM κ anti-MAG neuropathy shows moderate depletion of myelinated fibres in the resin section. Scattered thinly myelinated fibres are suggestive of…
