Muscle Diseases

Auteur

Dr Andria FA Merrison, MA MBChB MD FRCP is a Consultant Neurologist based in North Bristol NHS Trust and is the Director of the South West Neuromuscular Operational Delivery Network and the Bristol Motor Neurone Disease Centre.

Dr Stefen Brady BA, MB, BCh, BAO, FRCP, DPhil is a Consultant Neurologist and Clinical Lead of the Oxford Adult Muscle and Spinal Muscular Atrophy (SMA) Services, Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford.

Texte du rabat

A how-to-guide on the clinical assessment and investigation of patients presenting with muscle-related symptoms. Featuring a case-based approach, this accessible text is suitable for a wide range of clinical specialists who see patients presenting with both common and rare muscle diseases.

Contenu

History, Muscle Examination, Serological Tests, Muscle Antibodies, Neurophysiology, Muscle Pathology/ Muscle Biopsy, Muscle Imaging, Genetic investigations in neuromuscular diseases, Management, treatment and therapy for Neuromuscular conditions, Becker muscular dystrophy, Duchenne muscular dystrophy, Facioscapulohumeral muscular dystrophy, Recessive limb girdle muscular dystrophy R1 (calpainopathy), Recessive limb girdle muscular dystrophy R12 (ANO5), Dominant limb girdle muscular dystrophy (Emery-Dreifuss muscular dystrophy 2), Collagen VI myopathy, Nemaline myopathy, Emery-Dreifuss muscular dystrophy, GNE myopathy, Ryanodine receptor 1 (RyR1) congenital myopathy, BAG3 myofibrillar myopathy, Distal myopathy, Oculopharyngeal muscular dystrophy, Tubular aggregate myopathy, Myotonic dystrophy type 1, Myotonic dystrophy type 2, Myotonia congenita, Inclusion body myositis (IBM), Dermatomyositis, ASS, Sarcoid myopathy, Statin-related myopathy, Critical illness myopathy, Thyroid myopathy, Asymptomatic hyperCKaemia, Neck extensor myopathy, McArdle disease, Acid maltase deficiency (Pompe disease), Fatty acid oxidation disorders, Adult-onset ryanodine receptor 1 (RYR1) related myopathy, Progressive external ophthalmoplegia, Mitochondrial encephalopathy, lactic acidosis & stroke-like episodes (MELAS), Limb-girdle congenital myasthenia syndrome, Spinal muscular atrophy, Kennedy's disease