torsion dystonia 6

A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain contain

A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11.

Signs and symptoms

• Limb dystonia
• Torticollis
• Writer's cramp
• Dysarthria
• Dysphonia
• Torsion dystonia
• Oromandibular dystonia
• Laryngeal dystonia
• Lingual dystonia
• Myoclonus