autosomal recessive distal hereditary motor neuronopathy 10

An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutat

An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32.

Signs and symptoms

• Motor delay
• Increased endomysial connective tissue
• Motor axonal neuropathy
• Decreased number of peripheral myelinated nerve fibers
• Increased variability in muscle fiber diameter
• Distal muscle weakness
• Skeletal muscle atrophy
• Hyporeflexia
• Hypotonia
• Pes cavus