Conditions / Genetic
progressive myoclonus epilepsy 4
info · Genetic
A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1.
Signs and symptoms
- Nephrotic syndrome
- Renal insufficiency
- Hypoalbuminemia
- Proteinuria
- Edema
- Normochromic anemia
- Myoclonus
- Action tremor
- Pleural effusion
- Cerebellar atrophy
Also known as: AMRF; EPM4; Myoclonus-nephropathy syndrome; action myoclonus-renal failure syndrome