hereditary sensory neuropathy type 1D

A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show fe

A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q.

Signs and symptoms

• Peripheral axonal neuropathy
• Paresthesia
• Pes cavus
• Autoamputation of digits
• Peripheral neuropathy
• Distal sensory impairment
• Distal sensory impairment of all modalities
• Nail dystrophy
• Hyperreflexia
• Osteomyelitis

Also known as: HSAN1D; HSN1D; hereditary sensory and autonomic neuropathy type 1D; hereditary sensory and autonomic neuropathy type ID; hereditary sensory neuropathy type ID