Living with Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
A rare genetic condition starting in childhood with muscle weakness and wasting, followed by seizures and muscle jerks.
Understanding Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
After a few years of typical development, children have weakness and wasting in the legs, trouble walking and frequent falls. The weakness spreads through the body and can affect breathing and swallowing muscles, making pneumonia more likely. A few years later, recurrent seizures begin, including muscle jerks, and they are often hard to control with medication. Tremors and hearing loss can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Leg muscle weakness and wasting
- Frequent falls and clumsiness
- Seizures of several types
- Sudden muscle jerks (myoclonus)
- Tremor
- Pneumonia from swallowing problems
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 and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ASAH1 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: 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 Epilepsy Foundation
- 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
GARD lists changes in the ASAH1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: hereditary myoclonus and progressive distal muscular atrophy; hereditary myoclonus with progressive distal muscular atrophy; hereditary myoclonus-progressive distal muscular atrophy syndrome; jankovic-rivera syndrome; myoclonus, hereditary, with progressive distal muscular atrophy; sma-pme
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Spinal muscular atrophy-progressive myoclonic epilepsy syndrome.
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