Conditions / Genetic
autosomal dominant distal hereditary motor neuronopathy 4
info · Genetic
A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2.
Signs and symptoms
- EMG: neuropathic changes
- Hand muscle weakness
- Steppage gait
- Distal upper limb muscle weakness
- Distal lower limb muscle weakness
- Absent Achilles reflex
- Gait disturbance
- Easy fatigability
- Peripheral neuropathy
- Distal upper limb amyotrophy
Also known as: DHMN2C; HMN IIC; HMN2C; distal hereditary motor neuronopathy type 2C; distal hereditary motor neuropathy type IIC