Mutilating hereditary sensory neuropathy with spastic paraplegia
Synonyms: Mutilating HSAN with spastic paraplegia
A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
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COMBINEDBrain Inc
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Charcot-Marie-Tooth Association
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Eleanor Kaplan Foundation Inc.
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Genetic Support Network of Victoria
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National Ataxia Foundation
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