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Muscle Diseases: A Guide to Differential Diagnosis, Investigation and Management

Editat de Andria Merrison, Stefen Brady
en Limba Engleză Paperback – 6 ian 2025
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.
Muscle diseases are often initially missed or misdiagnosed as they are uncommon disorders and can present in a variety of ways, often mimicking other more common disorders. Careful assessment of the history, physical examination and appropriate choice of investigations is therefore essential to reaching a diagnosis and providing short and long-term effective management plans. Key features of this resource include:
•           A case-based approach: using real cases seen in clinical practice and highlighting different clinical presentations.
•           Providing case vignettes that cover patient history, examination, investigations, diagnosis, and discussion points to assist the reader in developing a mental framework for thinking about muscle disease and approaching diagnosis.
•           Highlighting the relevant investigations (including muscle biopsy, neurophysiology, and muscle imaging) required for each clinical scenario, aiding the clinician in clinicopathological correlation.
•           Being concise, practical, and complemented by a wide range of figures to enhance understanding.
Patients with muscle diseases may be referred to one of several medical or surgical specialties including neurology, rheumatology, neuropathology, neurophysiology, cardiology, respiratory medicine, intensive care medicine, gastroenterology, ophthalmology, orthopaedic and spinal surgery, before the correct diagnosis is considered. This accessible text is an ideal resource for clinicians.
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Specificații

ISBN-13: 9781138368026
ISBN-10: 1138368024
Pagini: 228
Ilustrații: 92
Dimensiuni: 156 x 234 mm
Ediția:1
Editura: CRC Press
Colecția CRC Press

Public țintă

Professional and Professional Practice & Development

Cuprins

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

Notă biografică

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.

Descriere

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.