Living with Bulbospinal muscular atrophy
A genetic nerve condition, mostly in males, with slowly worsening muscle weakness and wasting, usually starting in adulthood.
Understanding Bulbospinal muscular atrophy
It mainly affects males and causes muscle weakness and wasting that usually begins in adulthood and worsens slowly. Leg weakness can make walking hard and lead to falls. Face and throat muscles can be affected, causing swallowing and speech problems. Muscle twitches are common. Some males have breast enlargement (gynecomastia) or may be unable to father a child.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, these are the main features:
- Muscle weakness and wasting
- Muscle cramps and twitches
- Trouble walking and falls
- Swallowing problems
- Speech problems
- Breast enlargement in some males
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 changes in genes cause this condition but doesn't name a gene. It mainly affects males.
Also known as: bulbospinal neuronopathy; sbma; spinal and bulbal muscular atrophy; spinal-bulbar muscular atrophy
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 Bulbospinal muscular atrophy.
Explore research for Bulbospinal muscular atrophy
Explore actively recruiting Bulbospinal muscular atrophy studies with HealthSpark.
Find actively recruiting studies for Bulbospinal muscular atrophy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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