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A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center