Muscle Diseases

A Guide to Differential Diagnosis, Investigation and Management

Andria Merrison, Stefen Brady (Herausgeber)

Buch | Softcover

212 Seiten

2025
CRC Press (Verlag)
978-1-138-36802-6 (ISBN)

Noch nicht erschienen (ca. Januar 2025)
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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.

This volume is 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

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

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.

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.

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

Erscheint lt. Verlag	6.1.2025
Zusatzinfo	14 Tables, black and white; 32 Halftones, color; 14 Halftones, black and white; 32 Illustrations, color; 14 Illustrations, black and white
Verlagsort	London
Sprache	englisch
Maße	156 x 234 mm
Themenwelt	Medizin / Pharmazie ► Allgemeines / Lexika
	Medizinische Fachgebiete ► Chirurgie ► Unfallchirurgie / Orthopädie
	Medizinische Fachgebiete ► Innere Medizin ► Rheumatologie
	Medizin / Pharmazie ► Medizinische Fachgebiete ► Neurologie
ISBN-10	1-138-36802-4 / 1138368024
ISBN-13	978-1-138-36802-6 / 9781138368026
Zustand	Neuware