autosomal recessive distal hereditary motor neuronopathy 7

An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36.

Signs and symptoms

• Motor axonal neuropathy
• Distal lower limb muscle weakness
• Proximal lower limb muscle weakness
• Pes cavus
• Lower limb amyotrophy
• Proximal upper limb muscle weakness
• Flexion contracture
• Foot dorsiflexor weakness
• Hyporeflexia
• Distal upper limb muscle weakness