Living with Action myoclonus-renal failure syndrome
An inherited condition with muscle jerks, tremor, and often kidney disease, usually starting in the teens or twenties.
Understanding Action myoclonus-renal failure syndrome
Movement problems usually start with a tremor in the fingers and hands, which can spread and become myoclonic jerks triggered by movement. Anxiety, stress, excitement, or fatigue can make them worse. Some people have seizures, nerve damage in the limbs, or hearing loss. When kidneys are affected, an early sign is protein in the urine, and kidney function can worsen over time. Not everyone has kidney problems. GARD lists onset as teenager and adult.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle jerks (myoclonus)
- Action tremor
- Kidney disease (nephrotic syndrome)
- Seizures
- Unsteady walk
- Trouble swallowing
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists, kidney specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in SCARB2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
NephCure Kidney International and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: NephCure Kidney International, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with NephCure Kidney International and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SCARB2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: action myoclonus renal failure syndrome; amrf; amrf - action myoclonus renal failure; epilepsy, progressive myoclonic 4, with or without renal failure; epilepsy, progressive myoclonic, 4, with or without renal failure; epilepsy, progressive myoclonic, 4, with renal failure
Patient organizations
- NephCure Kidney InternationalAction myoclonus-renal failure syndrome · United States
- Epilepsy FoundationEpilepsy · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
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Perspectives from people navigating life with Action myoclonus-renal failure syndrome.
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