Neuromuscular Disease

HadiManji MAMD FRCP, Chris Turner FRCPPhD, Matthew R. B. Evans MBBSMRC Centre for Neuromuscular Diseases, NationalHospital for Neurology and Neurosurgery, Queen Square, London

• Section 1: Peripheral nerve, neuromuscular junction and motorneuron disorders.- A woman who couldnot wear high heels.- Rare as rocking horse droppings…- A lady with ataxia – anexample of Hickam’s Dictum.- A lady with tremor not due to Parkinson’sdisease.- A makeup artist with Crohn’s disease.- Not a laughing matter.- Legswelling and painful feet in a business man.- A man with back pain and weightloss.- A man with progressive weakness and muscle twitching.- A woman withburning hands.- Another case of unsteadiness.- A young man with blurred visionand foot drop.- Progressive motor weakness in a Somalian man.- A man with apacemaker develops difficulty walking.- Cramps, weakness and fasciculations.- Alady with weakness since childhood.- A man with an insidious, painfulmononeuropathy.- A lady with head drop.- The dangers of home preservedvegetables.- A man with a dry mouth and weakness.- A man with difficultychewing gum and an ominous family history.- A patient with anacute syndrome,recovers and represents years later.- A man with recurrent chest infections.- Amedical student with episodes of weakness and sensory disturbance.- Weakness inan Indian man.- A man with episodes of shoulder pain and a weak arm.- A manwith painful feet and hand ulcers.- A psychologist with wrist drop.- Section 2: Muscle disorders.- Longstandingdrooping eyelids.- Drooping eyelids PLUS.- Neither one nor the other.- When ismyotonia not caused by myotonic dystrophy?.- Myotonia and paralysis-twosyndromes, one diagnosis.- Typical phenotype, MRI and histology.- Atypicalphenotype, MRI and histology.-  A multisystem muscle disorder needsmonitoring.- The less aggressive and less common cousin.- A common cause ofprogressive proximal weakness...- ... and the other common cause.-  Atreatable systemic muscle disease.- A blood vessel disease causing weakness.-Antibody-mediated muscle disease?.- When the wind comes back.- When the winddoes not come back.- Paralysis is only a part of the problem.- “Back to thebasics”-never forget to look at the back.- Is it time to take the heat out ofthe problem?.- Praying for an answer can be helpful.- Neuromuscular junctiondysfunction is not always myasthenic.- Carrying shopping can be difficult,especially for men.