amyotrophic neuralgia

A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene o

A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25.

Signs and symptoms

• Epicanthus
• Skeletal muscle atrophy
• Cleft palate
• Upslanted palpebral fissure
• Short stature
• Narrow mouth
• Deeply set eye
• Blepharophimosis
• Brachial plexus neuropathy
• Depressed nasal bridge

Also known as: neuralgic amyotrophy