autosomal dominant distal hereditary motor neuronopathy 8

An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 g

An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.

Signs and symptoms

• Areflexia
• Distal lower limb muscle weakness
• Distal lower limb amyotrophy
• Arthrogryposis multiplex congenita
• Scoliosis
• Hyporeflexia
• Elevated circulating creatine kinase activity
• Talipes equinovarus
• Distal amyotrophy
• Hip contracture

Also known as: DHMN8; HMN8; autosomal dominant benign distal spinal muscular atrophy; autosomal dominant congenital benign spinal muscular atrophy; congenital benign spinal muscular atrophy with contractures