autosomal dominant distal hereditary motor neuronopathy 5

An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the

An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.

Signs and symptoms

• Distal muscle weakness
• Distal amyotrophy
• Upper limb muscle weakness
• First dorsal interossei muscle weakness
• Thenar muscle atrophy
• Peripheral neuropathy
• First dorsal interossei muscle atrophy
• Thenar muscle weakness
• Upper limb amyotrophy
• Cold-induced hand cramps

Also known as: DHMN5; DSMAV; HMN5; distal HMN V; distal HMN VA