Conditions / Genetic
autosomal dominant distal hereditary motor neuronopathy 3
info · Genetic
An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23.
Signs and symptoms
- EMG: neuropathic changes
- Gait disturbance
- Distal lower limb muscle weakness
- Peripheral neuropathy
- Paralysis
- Paresis of extensor muscles of the big toe
- Areflexia of lower limbs
- Hyporeflexia of lower limbs
Also known as: HMN IIB; HMN2B; distal hereditary motor neuronopathy type 2B; distal hereditary motor neuropathy type IIB