Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type 1.
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Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1.
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The signs and symptoms of hereditary sensory neuropathy type 1 typically appear during a person's teens or twenties.
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Hereditary sensory neuropathy type 1 is a condition characterized by nerve abnormalities in the legs and feet ( peripheral neuropathy ).
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This gradual destruction of nerve cells results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type 1.
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Dr . Jonathan Glass, assistant professor of neurology at Emory School of Medicine, said the girls'symptoms could indicate a rare, genetic condition known as hereditary sensory neuropathy with hearing loss.
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Hereditary sensory neuropathy type IV ( HSN4 ) is a rare genetic disorder characterized by the loss of sensation ( sensory loss ), especially in the feet and legs and, less severely, in the hands and forearms.
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In 1975, Dyck and Otha proposed a descriptive classification of the diseases and introduced the term hereditary sensory neuropathy ( HSN ) which later was changed to hereditary sensory and autonomic neuropathy ( HSAN ) given the substantial autonomic involvement in the diseases.
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