Abstract
Neuromuscular diseases can be defined as those which affect the lower motor neuron or anterior horn cell (AHC), roots and root ganglia, plexus, nerves, neuromuscular junction and muscle. This covers an immense array of illnesses: degenerative, genetic, immune, infectious, metabolic, neoplastic, nutritional, paraneoplastic, traumatic, toxic, and vasculitic. Clearly, a thorough review is neither possible nor intended. An approach to patients with these disorders will be outlined with the major emphasis placed on the history and neurologic examination. The method used herein will be case presentations followed by case analysis.
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Appendix A
Appendix A
Screening evaluation for an idiopathic neuropathy |
CBC |
BUN, creatinine |
Liver functions |
Calcium, phosphorus |
Free T-4, TSH |
ANA |
B12 level |
ESR |
Rheumatoid factor |
Serum protein electrophoresis and immunofixation |
Review of occupational exposure to toxic agents and social history, primarily nutrition and alcohol consumption |
Review of family history |
Neuropathy with prominent dysautonomia |
Diabetes |
Amyloidosis |
Hereditary sensory and autonomic neuropathy |
Paraneoplastic sensory and autonomic neuropathy |
Polyganglionopathy |
Acute pandysautonomia |
Guillain–Barré syndrome |
Porphyria |
HIV |
Toxic drugs. Especially amiodarone, vincristine, and cisplatin |
Toxic substances. N-hexane, arsenic, mercury, and thallium |
Demyelinating neuropathies |
Guillain–Barré syndrome (AIDP) |
CIDP |
Osteosclerotic myeloma |
MGUS (monoclonal gammopathy of undetermined significance) |
Hereditary susceptibility to pressure palsies |
Hereditary sensorimotor neuropathy, types 1 and 3 |
 Type 1 CMT 1 Charcot–Marie–tooth |
 Type 3 CMT 3 Déjérine–Sottas disease |
Multifocal motor neuropathy |
POEMS syndrome |
Diabetes |
HIV |
Anti-MAG syndrome |
Anti-Sulfatide syndrome |
Leprosy |
GALOP syndrome |
Amiodarone |
Chloroquine |
Perihexaline |
Refsums disease |
Most common toxic neuropathies |
Amiodarone |
Phenytoin |
Cisplatin |
Vincristine |
Isoniazid |
Chloroquine |
Thalidomide |
Nitrofurantoin |
Vitamin B6 |
Metronidazole |
Taxols |
Colchicine |
Multiple mononeuropathies |
Sarcoidosis |
Vasculitis |
Leprosy |
Lyme disease |
HIV |
Cryoglobulinemia |
Multifocal motor conduction block neuropathy |
Diabetes |
Neurofibromatosis |
Hereditary susceptibility to pressure palsies |
Case discussions related to anatomic site of pathology |
Anterior horn cell. Cases 13, 32 |
Fibromyalgia. Case 39 |
Myopathy. Cases 6, 10, 16, 21, 23, 24, 33, 35, 36, 38 |
Neuromuscular junction. Cases 12, 16, 21 |
Neuropathy. Cases 3, 4, 5, 7, 8, 9, 14, 15, 17, 20, 22, 23, 24, 25, 26, 27, 28, 29, 30, 34, 37, 40 |
Myelopathy. 31 |
Plexopathy. Cases 2, 18, 19 |
Radiculopathy. 1, 7 |
Tendonitis. Case 11 |
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Alpert, J.N. (2019). Neuromuscular Diseases: Neuroanatomic and Differential Diagnoses. In: The Neurologic Diagnosis. Springer, Cham. https://doi.org/10.1007/978-3-319-95951-1_9
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