frontotemporal dementia and/or amyotrophic lateral sclerosis 6

An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13.

Signs and symptoms

• Fasciculations
• Type 1 muscle fiber predominance
• Muscle weakness
• EMG: chronic denervation signs
• Brisk reflexes
• Abnormal lower motor neuron morphology
• Depression
• Proximal lower limb muscle weakness
• Respiratory failure
• Proximal upper limb muscle weakness

Also known as: ALS14; amyotrophic lateral sclerosis 14; amyotrophic lateral sclerosis type 14; amyotrophic lateral sclerosis, with or without frontotemporal dementia