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Neuromuscular Diseases: Neuroanatomic and Differential Diagnoses

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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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  • DOI: https://doi.org/10.1007/978-3-319-95951-1_9

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-95950-4

  • Online ISBN: 978-3-319-95951-1

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