Action myoclonus-renal failure syndrome Overview Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. Symptoms Neurological Symptoms Action Myoclonus: S udden, brief, involuntary muscle jerks in the face, torso, and limbs that worsen when attempting voluntary movement. Tremors: Fine or rhythmic shaking in the hands, fingers, and sometimes the head or tongue. Seizures: Generalized tonic-clonic or myoclonic seizures.Ataxia: Loss of balance and unco...
GM3 Synthase Deficiency Overview GM3 synthase deficiency is a rare genetic condition that can affect several different body systems. Many individuals with this condition have symptoms of severe infantile irritability with feeding difficulties, vomiting, seizures, low muscle tone, poor vision, hearing impairment, a small head, growth failure and frequent infections. Some people with this condition may have additional symptoms, such as uncontrolled and abnormal movements, abnormal lateral curvature of the spine (scoliosis) and gastrointestinal issues. Many individuals have severe-to-profound developmental delays and intellectual disability, with few individuals meeting early developmental milestones. The condition is rare, with more than 100 patients reported in medical literature. Many of these individuals come from Old Order Amish or La Réunion Island ancestry, but the condition has been reported in other populations as well. GM3 synthase deficiency is an autosomal recessive condition ...