Congenital Myopathies Primary manifestation: delayed motor milestones. Congenital Muscular Dystrophies Congenital myotonic dystrophy, congenital muscular dystrophies: muscle destruction, replacement by fat and connective tissue on muscle biopsy. Congenital muscular dystrophies…
Familial Periodic Paralysis Episodic bouts of limb weakness. Inherited “channelopathies” (inherited abnormalities of ion channels). Clinical features in Table 127.1. Hypokalemic Periodic Paralysis (HoPP) Serum potassium decreases in spontaneous attack…
Progressive Muscular Dystrophies General Considerations Definition Characteristics of progressive muscular dystrophy: (1) myopathy (by clinical, histologic, and EMG criteria); (2) all symptoms are effects of muscle weakness; (3) symptoms become…
Identifying Disorders of the Motor Unit Motor unit: anterior horn cell, peripheral motor nerve, muscle. Manifestations: flaccid weakness, wasting, depression of tendon reflexes (Table 125.1). Tests to distinguish neurogenic from…
Acute Quadriplegic Myopathy Also known as “critical illness myopathy.” Corticosteroids, nondepolarizing neuromuscular blocking agents, or both considered the prime inciting factors. Condition may appear in critically ill patients without exposure…
Botulism and Antibiotic-Induced Neuromuscular Disorders Botulism Toxin blocks nicotinic and muscarinic cholinergic synapses by impeding presynaptic release of acetylcholine. Blocks fusion of vesicles with surface membrane. Epidemiology: toxin produced by…
Lambert-Eaton Myasthenic Syndrome Lambert-Eaton myasthenic syndrome (LEMS): autoimmune disease of peripheral cholinergic synapses. Small-cell lung carcinoma in 60%; other tumors in 7%. Neurologic symptoms precede those of tumor. Pathogenesis: antibodies…
Myasthenia Gravis Disorder of neuromuscular transmission from antibody-mediated attack on nicotinic AChR at neuromuscular junctions. Fluctuating weakness improved by inhibitors of cholinesterase. Etiology and Pathogenesis Polyclonal IgG antibodies to AChR…
Syringomyelia Tubular cavitation of spinal cord, usually cervical, then other segments; more frequent in men; sometimes familial. Onset age 20 to 40. Slow progression; more rapid if brainstem affected (syringobulbia)….
Hereditary and Acquired Motor Neuron Diseases Definitions Diseases characterized by progressive degeneration and loss of motor neurons in spinal cord, motor nuclei of brainstem, motor cortex, or all three sites….
