Living with Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
A rare inherited condition in which spinal cord nerve cells break down, causing weakness mostly in the thighs.
Understanding Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
It causes muscle weakness mainly in the upper legs. It is also known as DYNC1H1-related spinal muscular atrophy. It starts at a variety of ages.
Signs & symptoms
GARD lists these among the less common symptoms:
- Weakness in the upper legs
- Delayed walking
- Reduced knee reflex
- Foot differences
- Delayed development
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 DYNC1H1 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 DYNC1H1 Association and other patient organizations
- 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 the DYNC1H1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: dync1h1-related autosomal dominant childhood-onset proximal spinal muscular atrophy; dync1h1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy; kugelberg-welander syndrome, autosomal dominant; lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures; smaled1; spinal muscular atrophy, childhood, proximal, autosomal dominant
Patient organizations
- DYNC1H1 AssociationAutosomal dominant childhood-onset proximal spinal muscular atrophy without contractures · United States
- Simons SearchlightAutosomal dominant childhood-onset proximal spinal muscular atrophy without contractures · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures.
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