hereditary sensory and autonomic neuropathy type 1A

A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.

Signs and symptoms

• Skeletal muscle atrophy
• Hand tremor
• Decreased motor nerve conduction velocity
• Impaired distal proprioception
• Impaired distal tactile sensation
• Distal muscle weakness
• Cataract
• Tongue fasciculations
• Frequent falls
• Hyporeflexia

Also known as: HSAN1A; HSN1A; hereditary sensory and autonomic neuropathy type IA; hereditary sensory neuropathy type 1A; hereditary sensory neuropathy type IA