autosomal recessive distal hereditary motor neuronopathy 8

An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the

An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.

Signs and symptoms

• Elevated circulating sorbitol concentration
• Distal lower limb muscle weakness
• Decreased amplitude of sensory action potentials
• Distal upper limb muscle weakness
• Scoliosis
• Gait disturbance
• Pes cavus
• Impaired vibratory sensation
• Impaired pain sensation
• Decreased motor nerve conduction velocity

Also known as: SORDD; sorbitol dehydrogenase deficiency with peripheral neuropathy