Conditions / Genetic
autosomal dominant distal hereditary motor neuronopathy 6
info · Genetic
A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32.
Signs and symptoms
- Decreased motor nerve conduction velocity
- Proximal muscle weakness
- Decreased Achilles reflex
- EMG: chronic denervation signs
- Triceps weakness
- Gait disturbance
- Muscle spasm
- Fasciculations
- Lower limb muscle weakness
- Difficulty running
Also known as: HMN IID; HMN2D; distal hereditary motor neuronopathy type 2D; distal hereditary motor neuropathy type IID; distal spinal muscular atrophy with calf predominance