myoclonic dystonia 34

A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22.

Signs and symptoms

• Hand tremor
• Dystonia
• Impaired smooth pursuit
• Torticollis
• Rotary nystagmus
• Writer's cramp
• Impaired tandem gait
• Head tremor
• Myoclonus
• Ptosis