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

ISBN: 9781138368026
ISBN: 9781138368026
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Διαστάσεις 22 × 14 cm
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Περιγραφή

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.

Περιεχόμενα

1.       History

Andria Merrison

2.       Muscle Examination

Stefen Brady

3.       Serological Tests

Stefen Brady

4.       Muscle Antibodies

Maria Mirza and Joel David

5.       Neurophysiology

Andria Merrison & Agyepong Oware

6.       Muscle Pathology/ Muscle Biopsy

Andria Merrison & Kathy Urankar

7.       Muscle Imaging

Rajat Chowdary

8.       Genetic investigations in neuromuscular diseases

Kate Sargent and Carl Fratter

9.       Management, treatment and therapy for Neuromuscular conditions

Andria Merrison

10.   Close

Stefen Brady

CASES

1.       Becker muscular dystrophy

Stefen Brady

2.       Duchenne muscular dystrophy

Sithara Ramdas

3.       Facioscapulohumeral muscular dystrophy

Stefen Brady

4.       Recessive limb girdle muscular dystrophy R1 (calpainopathy)

Andria Merrison

5.       Recessive limb girdle muscular dystrophy R12 (ANO5)

Andria Merrison

6.       Dominant limb girdle muscular dystrophy (Emery-Dreifuss muscular dystrophy 2)

Andria Merrison

7.       Collagen VI myopathy

Stefen Brady

8.       Nemaline myopathy

Andria Merrison

9.       Emery-Dreifuss muscular dystrophy

Andria Merrison

10.   GNE myopathy

Andria Merrison

11.   Ryanodine receptor 1 (RyR1) congenital myopathy

Sithara Ramdas

12.   BAG3 myofibrillar myopathy

Andria Merrison

13.   Distal myopathy

Louisa Kent and Stefen Brady

14.   Oculopharyngeal muscular dystrophy

Andria Merrison

15.   Tubular aggregate myopathy

Stefen Brady

16.   Myotonic dystrophy type 1

Andria Merrison

17.   Myotonic dystrophy type 2

Andria Merrison

18.   Myotonia congenita

Andria Merrison

19.   Inclusion body myositis (IBM)

Stefen Brady

20.   Dermatomyositis

Kezia Austin & Harsha Gunawardena

21.   ASS

Joel David and Charlotte David

22.   Sarcoid myopathy

Matthew Wells & Harsha Gunawardena

23.   Statin-related myopathy

Stefen Brady

24.   Critical illness myopathy

Andria Merrison

25.   Thyroid myopathy

Louisa Kent and Stefen Brady

26.   Asymptomatic hyperCKaemia

Stefen Brady

27.   Neck extensor myopathy

Stefen Brady      

28.   McArdle disease

Stefen Brady

29.   Acid maltase deficiency (Pompe disease)

Andria Merrison

30.   Fatty acid oxidation disorders

Stefen Brady

31.   Adult-onset ryanodine receptor 1 (RYR1) related myopathy

Stefen Brady

32.   Progressive external ophthalmoplegia

Stefen Brady

33.   Mitochondrial encephalopathy, lactic acidosis & stroke-like episodes (MELAS)

Stefen Brady

34.   Limb-girdle congenital myasthenia syndrome

Stefen Brady

35.   Spinal muscular atrophy

Andria Merrison

36.   Kennedy’s disease

Andria Merrison