amyotrophic lateral sclerosis type 21

An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5.

Signs and symptoms

• Distal muscle weakness
• Increased variability in muscle fiber diameter
• Distal lower limb muscle weakness
• Hand muscle weakness
• Rimmed vacuoles
• Dysphagia
• Elevated circulating creatine kinase activity
• Abnormal lower motor neuron morphology
• Bulbar signs
• Hoarse voice

Also known as: ALS21