Community
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy
A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that is caused by homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22.
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that is caused by homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22.
Resources
Join the Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy community
Talk with people who understand, share what helps, and find support from others living with spinal muscular atrophy with progressive myoclonic epilepsy. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.