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….
A Man with Episodes of Shoulder Pain and a Weak Arm
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…
Leg Swelling and Painful Feet in a Business Man
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…
Weakness in an Indian Man
© 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…
A Patient with an Acute Syndrome, Recovers and Represents Years Later
© 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…
A Man with Recurrent Chest Infections
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…
A Man with Difficulty Chewing Gum and an Ominous Family History
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…
