Conditions / Genetic
autosomal dominant distal hereditary motor neuronopathy 14
info · Genetic
An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1.
Signs and symptoms
- Abnormal lower motor neuron morphology
- Hand muscle weakness
- Hand muscle atrophy
- Distal amyotrophy
- Lower limb muscle weakness
- Distal muscle weakness
- Vocal cord paralysis
- Weakness of facial musculature
Also known as: DHMN7B; HMN VIIB; HMN7B; Harper-Young myopathy; distal hereditary motor neuronopathy type 7B