dystonia 16

A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of inte

A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.

Signs and symptoms

• Generalized dystonia
• Limb dystonia
• Abnormal pyramidal sign
• Parkinsonism
• Bradykinesia
• Abnormal pyramidal tract morphology
• Motor delay
• Laryngeal dystonia
• Limb pain
• Hyperreflexia