Hereditary metabolic myopathies are a group of muscle disorders that result from a shortage of energy production (i.e., deficiency of adenosine triphosphate [ATP]). In muscle, ATP is produced by aerobic glycogenesis or glycogenolysis and glycolysis, using the respiratory chain, or…
The autoimmune inflammatory myopathies comprise five major and distinct subsets: polymyositis (PM), dermatomyositis (DM), necrotizing autoimmune myositis (NAM), overlap myositis and antisynthetase syndromes (OM-AS), and inclusion body myositis (IBM) ( ). Although moderate to severe muscle weakness, endomysial inflammation, and…
Endocrine Disorders Table 21.1 summarizes the neuromuscular manifestation of these disorders. Table 21.1 Neuromuscular Manifestation of Endocrine Disorders Modified with permission from Bertorini T. E. (2008). Neuromuscular case studies . Philadelphia: Butterworth-Heinemann. Diabetes Symptoms Laboratory Test Results EMG Biopsy Treatment…
Muscular dystrophies have long been recognized as heterogeneous inherited disorders, characterized by progressive skeletal muscle degeneration, weakness, and dystrophic changes in muscle biopsy. These diseases are known to have autosomal dominant, recessive, or X-linked inheritance. Clinical observations initially led to…
Disorders of the neuromuscular junction include myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), botulism, congenital myasthenic syndrome (CMS), snakebite myasthenia, organophosphate poisoning (OPP), and hypermagnesium-induced paralysis. 1 1 Tick paralysis is excluded from this chapter because it is due to…
Disorders of Neuromuscular Hyperexcitability Muscle pain, stiffness, and cramps are symptoms frequently seen in neuromuscular practice. The differential diagnosis of these symptoms is wide and includes systemic disorders, neurologic disorders involving the pyramidal or extrapyramidal systems, and neuromuscular diseases (…
This chapter is devoted to focal disorders of the peripheral nervous system, including radiculopathies, plexopathies, and mononeuropathies. These conditions span a broad range of disorders, from radiculopathy due to Lyme disease and obturator neuropathy at the extremes of rarity to…
The disorders that fall under infectious, granulomatous, and toxic neuromuscular disorders are too numerous and broad to be covered comprehensively in a single chapter. To achieve the objectives of this book, we focus on conditions that are seen more frequently…
Introduction Autoimmune peripheral neuropathies (APNs) develop when immunologic tolerance to key antigenic sites on myelin, axon, nodes of Ranvier, or ganglionic neurons is lost ( , ). These conditions may manifest either acutely or in a more chronic manner; symptoms…
The authors thank Gerald Raymond for helpful feedback on this chapter. Overview of Inherited Neuropathies Hereditary neuropathy remains a major cause of neuropathy in patients referred to tertiary centers, estimated to represent 25% to 40% of all causes of neuropathy.…