© 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 –…
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…
Amplitude (μV) Onset latency (ms) Conduction velocity (m/s) Right sural NR NR Right superficial peroneal NR NR Left sural NR NR Left superficial peroneal NR NR Right median 6…
© 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…
