dystonia 37, early-onset with striatal lesions

A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21.

Signs and symptoms

• Dysphagia
• Dysarthria
• Ataxia
• Chorea
• Motor delay
• Loss of ambulation
• Hypotonia
• Generalized dystonia
• Microcephaly
• Choreoathetosis