autosomal dominant distal hereditary motor neuronopathy 2

An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding

An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.

Signs and symptoms

• EMG: neuropathic changes
• Distal lower limb muscle weakness
• Distal muscle weakness
• Paralysis
• Paresis of extensor muscles of the big toe
• Areflexia of lower limbs
• Hyporeflexia of lower limbs

Also known as: HMN II; HMN IIA; HMN2; HMN2A; autosomal dominant adult spinal muscular atrophy IIA