progressive myoclonus epilepsy 6

A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compoun

A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Scoliosis
• Areflexia
• Ataxia
• Loss of ambulation
• Myoclonus
• EEG with spike-wave complexes
• Bilateral tonic-clonic seizure
• Gait disturbance
• Generalized non-motor (absence) seizure

Also known as: EPM6; GOSR2-related progressive myoclonus ataxia; North Sea progressive myoclonus epilepsy; PME type 6; Progressive myoclonus epilepsy type 6