Living with Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
A rare nerve and muscle condition starting in early childhood with weakness in the thighs, waddling walk, and tight joints.
Understanding Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
It starts in early childhood. Symptoms include delayed walking, a waddling gait, foot differences, and tight joints (contractures). Some children have hip dysplasia. Sensation and thinking are normal in most cases. Many people have thin legs and a very broad upper body, giving a bodybuilder-like shape.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the thighs and upper arms
- Waddling walk
- Delayed walking
- Foot deformities
- Tight joints (contractures)
- Muscle loss in the lower legs
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 BICD2 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 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 changes in the BICD2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: bicd2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; bicd2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; smaled2; smaled2a; spinal muscular atrophy, lower extremity-predominant, 2a, autosomal dominant
Patient organizations
- Cure SMAAutosomal dominant childhood-onset proximal spinal muscular atrophy with contractures · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures.
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