Conditions / Genetic
autosomal dominant distal hereditary motor neuronopathy 12
info · Genetic
An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2.
Signs and symptoms
- Decreased motor nerve conduction velocity
- Pes cavus
- Thenar muscle atrophy
- Absent Achilles reflex
- Peroneal muscle weakness
- Peroneal muscle atrophy
- Decreased patellar reflex
Also known as: distal HMN VB; distal hereditary motor neuronopathy type 5B; distal spinal muscular atrophy type VB