Living with Spinal muscular atrophy with lower extremity predominance
A genetic condition with weakness and wasting of the leg muscles, mostly the thighs, that usually does not worsen over time.
Understanding Spinal muscular atrophy with lower extremity predominance
The thigh muscles are most affected. People may have a waddling or unsteady walk, walk on the balls of their feet, and have trouble rising from a seat or climbing stairs. Some also have upper limb weakness or joint tightness. Muscle problems usually show in infancy or early childhood, though about one-quarter of people develop weakness in adulthood. The weakness typically does not worsen over time.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, symptoms include:
- Weak, wasted leg muscles
- Waddling or unsteady walk
- Walking on the balls of the feet
- Trouble rising from a chair or climbing stairs
- Joint tightness (contractures)
- Some upper limb weakness
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says the loss of nerve cells that control muscle movement (motor neurons) leads to the muscle wasting. It doesn't list a gene. The condition is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: autosomal dominant childhood-onset proximal spinal muscular atrophy; lower extremity-predominant autosomal dominant proximal spinal muscular atrophy; smaled; smaled - spinal muscular atrophy, lower extremity, dominant
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 Spinal muscular atrophy with lower extremity predominance.
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