Huntington's disease-like 2

A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in

A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24.

Signs and symptoms

• Inertia
• Memory impairment
• Cerebral cortical atrophy
• Chorea
• Subcortical dementia
• Action tremor
• Bradykinesia
• Dystonia
• Dysarthria
• Rigidity

Also known as: HDL2; Huntington disease-like 2