ABSTRACT
Neuromuscular disorders have been at the vanguard of the translation of the clinical neurosciences from a purely clinically descriptive to an evidence-based and molecularly driven discipline. Neuromuscular disorders have therefore become one of the most exciting and rapidly advancing areas of clinical neurology and have provided an insight into the understanding of other neurological diseases. Muscle dysfunction manifests within a limited spectrum of clinical presentations. Muscle disease typically presents with muscle wasting and weakness and is often proximal. Muscle disease can also cause pain or ‘myalgia’, pseudohypertrophy/hypertrophy, rhabdomyolysis and abnormal muscle contraction. A full blood count is typically normal in myopathic disorders, although there may be a mild leukocytosis in inflammatory muscle disease or eosinophilia in, for instance, trichinosis. Hypokalaemic periodic paralysis is an autosomal dominant disorder, although 30 per cent of cases are sporadic. Point mutations have been identified in the genes for the skeletal muscle calcium channel, but also in the skeletal muscle sodium channel and potassium channel.
