Living with Adult-onset proximal spinal muscular atrophy, autosomal dominant
A rare genetic condition of the nerves that control muscles, with slowly worsening weakness near the center of the body, starting in adulthood.
Understanding Adult-onset proximal spinal muscular atrophy, autosomal dominant
It causes slowly worsening weakness in muscles near the center of the body, along with muscle twitching, wasting, and cramps. Reflexes are weak or absent. The summary notes there is no involvement of the muscles of the mouth and throat (bulbar) or of the upper motor neurons (pyramidal).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak or absent reflexes
- Trouble climbing stairs
- Tiredness (fatigue)
- Muscle cramps and spasms
- Muscle twitching (fasciculations)
- Wasting of muscles near the body's center
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 VAPB 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
Changes in the VAPB gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: autosomal dominant adult-onset proximal sma; autosomal dominant adult-onset proximal spinal muscular atrophy; autosomal dominant late-onset spinal muscular atrophy finkel type; autosomal dominant late-onset spinal muscular atrophy, finkel type; finkel disease; finkel late-adult type sma
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
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Perspectives from people navigating life with Adult-onset proximal spinal muscular atrophy, autosomal dominant.
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