Living with Progressive scapulohumeroperoneal distal myopathy
A rare genetic muscle disease that causes slowly increasing weakness in the shoulders, upper arms, hands, and lower legs.
Understanding Progressive scapulohumeroperoneal distal myopathy
It often involves weak wrists, finger and foot drop, shoulder blades that stick out (scapular winging), and mild facial weakness. Tendons in the heels, elbows, and shoulders can tighten. Reflexes are reduced or absent. Breathing muscles are spared until late. Age at onset, speed of change, and severity vary a lot.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Progressive muscle weakness
- Wrist drop and foot drop
- Shoulder blades that stick out (scapular winging)
- Weak neck muscles
- Reduced or absent reflexes
- Tight heel tendons (Achilles contracture)
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 ACTA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- 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 Muscular Dystrophy Association
- 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
This condition is caused by changes in the ACTA1 gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: myopathy, scapulohumeroperoneal
Patient organizations
- Muscular Dystrophy AssociationProgressive scapulohumeroperoneal distal myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive scapulohumeroperoneal distal myopathy.
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