autosomal dominant distal hereditary motor neuronopathy 10

An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23.

Signs and symptoms

• Fiber type grouping
• Decreased compound muscle action potential amplitude
• Distal lower limb muscle weakness
• Pes cavus
• Clonus
• Small thenar eminence
• Intellectual disability
• Hyperreflexia
• Pes planus
• Joint hypermobility