Paralysis Is Only a Part of the Problem
Fig. 45.1 Images of Patient (a) Face: demonstrates the small jaw, broad based nose, low set ears and epicanthic folds. (b) Hands: clinodactyly of fifth digits (c) Feet: syndactyly of…
A Man with an Insidious, Painful Mononeuropathy
Right Left μV m/s μV m/s Sural (calf-ankle) No response No response Superf. peroneal (calf-ankle) No response No response Table 17.2 Motor nerve conduction studies Right Left Common…
Typical Phenotype, MRI and Histology
Movement Right Left Movement Right Left Shoulder abduction 4+ 4+ Hip flexion 2 4 Elbow extension 4 4− Hip extension 5 5 Elbow flexion 4 4− Hip abduction 5 5…
Atypical Phenotype, MRI and Histology
Fig. 35.1 Muscle biopsy. Muscle biopsy of myofibrillar myopathy – myotilinopathy. Haematoxylin-Eosin stained sections (a, d) show variation in fibre size, frequent rimmed vacuoles and eosinophilic inclusions in many of…
Myotonia and Paralysis-Two Syndromes, One Diagnosis
Fig. 33.1 Neurophysiology: long exercise test. This shows the change in compound muscle action potential (CMAP) amplitude over 50 min following 5 min of exercise of ADM. The maximum decrement…
Drooping Eyelids Plus
Fig. 30.1 Bilateral ptosis and external ophthalmoplegia in Kearns-Sayre Syndrome: bilateral partial ptosis (a) with restriction of ocular movements in all directions of gaze as patient attempts to look up…
Neither One nor the Other
Fig. 31.1 Quadriceps needle biopsy from a 3 year old boy with Duchenne muscular dystrophy carrying a hemizygous nonsense mutation in exon 32 of the dystrophin gene predicted to cause…
A Psychologist with Wrist Drop
Fig. 28.1 MRI left elbow – T1w (a), T2w (b) and T1 post-gadolinium (c, d). A 10 mm, nodular, minimally enhancing mass is seen to arise from the left posterior…
Neuromuscular Junction Dysfunction Is Not Always Myasthenic
Fig. 49.1 (a) Repetitive stimulation (RNS) of the accessory nerve at 3/s with recording from trapezius showed a small CMAP amplitude (baseline to negative peak) of 0.9 mV and a…
Praying for an Answer Can Be Helpful
Fig. 48.1 (a) Muscle MRI demonstrating fatty replacement of most thigh muscles with relative sparing of the sartorius and gracilis (arrows) and a central area of abnormal signal within the…
