torsion dystonia 1

A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q

A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34.

Signs and symptoms

• Hypertonia
• Facial palsy
• Inability to walk
• Cerebellar atrophy
• Motor delay
• Oromandibular dystonia
• Generalized dystonia
• Hyperreflexia
• Dysphagia
• Babinski sign

Also known as: dystonia musculorum deformans