Living with Proximal spinal muscular atrophy
A group of inherited conditions in which nerve cells that control muscles are lost, causing growing muscle weakness.
Understanding Proximal spinal muscular atrophy
Motor neurons are the nerve cells that tell muscles to move. When they are lost, muscles weaken. It can start at any age. The weakness can affect walking, swallowing, and breathing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness and wasting
- Difficulty walking, running, or climbing stairs
- Reduced or absent reflexes
- Trouble swallowing (dysphagia)
- Weak breathing muscles
- Poor sucking in newborns
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 Cure SMA
- 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 gene changes cause this group of conditions. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: sma
Patient organizations
- Cure SMAProximal spinal muscular atrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with Proximal spinal muscular atrophy.
Explore research for Proximal spinal muscular atrophy
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