autosomal dominant distal hereditary motor neuronopathy 9

An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gen

An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2.

Signs and symptoms

• Distal upper limb muscle weakness
• Distal lower limb muscle weakness
• Motor axonal neuropathy
• Distal upper limb amyotrophy
• Absent Achilles reflex
• Distal lower limb amyotrophy
• Absent patellar reflexes
• Hyporeflexia
• Gait disturbance
• Pes cavus

Also known as: DHMN9; HMN9; distal hereditary motor neuronopathy type 9; distal hereditary motor neuropathy type IX