CLINICAL PHYSIOPATHOLOGY OF NEUROMUSCULAR AND DEGENERATIVE DISEASES
Learning outcomes of the course unit
Understand the concept of neuromuscular disease.
Theoretical knowledge of the main neuromuscular diseases with particular emphasis on a patient-oriented approach.
PREREQUISITES:Overview of anatomy and physiology of the nervous system
Course contents summary
Neuromuscolar Diseases: general details and classification, the motor unit, the muscle and muscular contraction, general semiotics of neuromuscular diseases.
Primary muscle diseases: general details on myopathies, pathophysiology and semiotics of myopathies, classification of myopathies
Muscular dystrophies: general details and definition, principles of diagnosis and treatment
Duchenne-Becker Dystrophy Congenital muscular dystrophies Emery-Dreyfuss dystrohpy Limb-girdle dystrophy Oculopharyngeal dystrophy Facioscapulohumeral dystrophy
Myotonic syndromes and channelopathies: Steinert’s myotonic dystrophy
Acquired myopathies: Polymyositis
Motor neuron diseases: Spinal amyotrophy Amyotrophic Lateral Sclerosis
Neuromuscular plaque diseases: Myasthenia Gravis – pathophysiology, clinics and treatment
Disorders of the Peripheral Nervous System general details, pathophysiology, classification and clinical picture. Instrumental investigations: Electroneurography, Electromyography. Axonal and Wallerian degeneration, segmental demyelinization
Etiological classification of polyneuropathies
Genetic neuropathies. Charcot-Marie-Tooth Disease. PMP22 and HNPP
Acquired neuropathies. Diabetic neuropathy.
Poloni M., Pinelli P. Neurologia