Living with Scapuloperoneal spinal muscular atrophy
A rare genetic nerve and muscle condition causing slowly worsening weakness in the shoulder and lower leg muscles, starting from birth or childhood.
Understanding Scapuloperoneal spinal muscular atrophy
It affects muscles of the shoulder blades and lower legs, and it can cause weakness of the voice box (laryngeal palsy). Some people are born without certain muscles, and some have bone differences. It begins from birth to childhood.
Signs & symptoms
GARD doesn't list common symptoms for this condition. It reports these less common features:
- Weakness and wasting of shoulder and lower leg muscles
- Voice box weakness (laryngeal palsy)
- Muscles missing from birth
- Decreased feeling in hands and feet
- Absent tendon reflexes
- Eye movement weakness (abducens palsy)
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 and genetic specialists.
- 3Consider genetic testing
Changes in TRPV4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
It is caused by changes in the TRPV4 gene. It is autosomal dominant, so one changed copy of the gene can be enough to cause it.
Also known as: amyotrophy, neurogenic scapuloperoneal, new england type; neurogenic scapuloperoneal amyotrophy, new england type; scapuloperoneal form of spinal muscular atrophy; scapuloperoneal neuronopathy; scapuloperoneal spinal muscular atrophy, autosomal dominant; spsma
Patient organizations
Rare-disease groups that can help
- 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 Scapuloperoneal spinal muscular atrophy.
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