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• W2019423632 abstract "We report dizygotic twins who first presented at the age of 6 months with severe diaphragmatic weakness and marked abnormalities of autonomic function. A female sibling had earlier died from a disorder with similar clinical features. Both twins had a severe axonal polyneuropathy with generalized hypotonic limb weakness together with diaphragmatic paralysis resulting in respiratory failure. Associated features were tachycardia, increased sweating, elevated body temperature, and hypertension, suggesting autonomic dysfunction. Nerve conduction studies indicated an axonopathy affecting both motor and sensory nerve fibres. Sural nerve biopsy in one twin performed at the age of 7 months showed a reduced population of myelinated nerve fibres, particularly those of larger diameter, with no indication of hypomyelination, demyelination or axonal atrophy. Examples of axonal forms of hereditary motor and sensory neuropathy (HMSN) with onset in infancy are very rare and autonomic involvement associated with this condition has not so far been described." @default.
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• W2019423632 date "2001-05-01" @default.
• W2019423632 modified "2023-09-23" @default.
• W2019423632 title "Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement" @default.
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• W2019423632 doi "https://doi.org/10.1016/s0960-8966(00)00210-8" @default.
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