dystonia 32

A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, r

A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.

Signs and symptoms

• Torticollis
• Dysphagia
• Lower limb hyperreflexia
• Limb dystonia
• Dysarthria
• Brain atrophy
• Laryngeal dystonia
• T2 hypointense basal ganglia

Also known as: DYT32