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Title
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Hereditary motor neuropathy
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Author
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Abstract
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| Hereditary motor neuropathy (HMN) is an enigmatic group of disorders. The classical presentation is early onset of distal weakness and muscular atrophy commonly complicated by foot deformities without clinical or electrophysiological evidence of sensory involvement. The arbitrary boundaries set up by the classifications and distinctions with other inherited neuro(no)pathies are increasingly crossed and appear less applicable in daily practice due to the rapid increase in the identification of genetic causes. Nevertheless, 50%–70% of cases remain genetically unsolved. This chapter discusses the clinical evaluation, genetic heterogeneity (41 genes), pathomechanisms and recent scientific advances. |
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Language
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English
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Source (book)
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Reference module in neuroscience and biobehavioral psychology
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Publication
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2024
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ISBN
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978-0-323-95702-1
978-0-12-809324-5
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DOI
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10.1016/B978-0-323-95702-1.00083-X
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Volume/pages
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p. 1-15
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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