autosomal dominant distal hereditary motor neuronopathy 11

An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_m

An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.

Signs and symptoms

• Peripheral axonal neuropathy
• Achilles tendon contracture
• Difficulty climbing stairs
• Hypotonia
• Distal muscle weakness
• Dyslexia
• Claw hand deformity
• Hyperactive patellar reflex
• Motor axonal neuropathy
• Foot dorsiflexor weakness