Conditions / Genetic

dystonia 24

info · Genetic · ICD-10: G24.8

A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14

A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.

Signs and symptoms

  • Torticollis
  • Limb tremor
  • Arm dystonia
  • Oromandibular dystonia
  • Head tremor
  • Blepharospasm