Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition – Part X: Neuromuscular Diseases (ebook)


Part X: Neuromuscular Diseases from Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition

Chapter 24 – Diseases of the Motor Neuron by Mariacristina Scoto and Francesco Muntoni

  • Chromosome 5-Proximal Spinal Muscular Atrophy
    • Genetics of 5-Proximal SMAs
    • Key Diagnostic Features and Differential Diagnosis
    • Standard of Care in SMA
    • Newborn Screening for SMA
    • Approved and Experimental Therapies Aiming at Increasing SMN Protein Levels
    • Other Therapeutic Approaches
  • Non-5q Spinal Muscular Atrophies
    • Other SMAs

Chapter 25 – Disorders of the Peripheral Nerves by Manoj Menezes and Robert Ouvrier

  • Charcot–Marie–Tooth Disease (Hereditary Motor and Sensory Neuropathy)
  • Uncommon Neuropathies with Motor and Sensory Involvement
  • Hereditary Sensory and Autonomic Neuropathies
    • Recommendations for Genetic Testing in CMT
  • Complex Neuropathies Associated with Central Nervous System Involvement and Metabolic Neuropathies
  • Acquired Diffuse Neuropathies
  • Endogenous and Exogenous Toxic Neuropathies
    • Endogenous Toxic Neuropathies
    • Exogenous Toxic Neuropathies
  • Neuropathies of Systemic and Vascular Diseases
  • Localised Disorders of the Peripheral Nerves (Excluding Cranial Nerves)
  • Traumatic Nerve Injuries
  • Localised Disorders of Cranial Nerves

Chapter 26 – Muscle Disorders by Monique M Ryan, Francesco Muntoni and Kathryn N North

  • Congenital Myopathies
  • Congenital Muscular Dystrophies
  • Progressive Muscular Dystrophies
    • Dystrophinopathies (Duchenne and Becker Muscular Dystrophies)
  • Myotonic Diseases and Related Conditions
    • Myotonic Dystrophy (Dystrophia Myotonica, DM1, Steinert Disease)
    • Ion Channel Disorders
  • Inflammatory Myopathies
  • Infectious Myositis
  • Metabolic Myopathies
    • Disorders of Glycogenolysis and Glycolysis – the Glycogen Storage Disorders (GSDs)
    • Disorders of Lipid Utilisation and Metabolism
    • Mitochondrial Myopathies
  • Systemic Myopathies of Childhood
  • Other Muscle Abnormalities

About the Complete Book

The Premier Reference Book on Clinical Child Neurology.

Congenital or early-onset disorders of the nervous system have a profound and lifelong impact on the lives of children and their families. Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition provides up-to-date information on the full range of these neurological disorders, from fetal and neonatal neurology to adolescence.

Movement disorders, epilepsies and seizure disorders, metabolic diseases, auditory and visual disorders, and genetic anomalies are among the many topics covered in this text. Extensive reference lists at the end of each chapter guide the clinician to further relevant reading.

This fourth edition retains the patient-focussed, clinical approach of its predecessors. The international team of editors and contributors has honoured the request of the late Jean Aicardi, that his book remain ‘resolutely clinical’, which distinguishes Aicardi’s Diseases of the Nervous System in Childhood from other texts in the field. For further information about the history of this title and previous editions, please see Further Materials.

This edition:

  • Is completely revised and updated
  • Includes latest developments in genetic advances
  • Contains new chapters on basal ganglia diseases and psychogenic disorders
  • Has an easy-to-use one volume format with full-colour illustrations

Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition remains the classic, user-friendly resource for busy clinicians in paediatric neurology, child neurology, general paediatrics, neurodisability, and all related medical disciplines.

Clinics in Developmental Medicine