Living with Proximal myopathy with extrapyramidal signs
A rare genetic condition with muscle weakness near the center of the body, learning problems, and movement disorders.
Understanding Proximal myopathy with extrapyramidal signs
It causes weakness in the muscles closest to the center of the body, and learning disabilities. The weakness does not progress. Most people develop worsening involuntary muscle movements that affect walking, movement, and posture, which can be disabling. Symptoms vary.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the upper arms and thighs
- Jerky, uncontrolled movements (chorea)
- Tremor at rest
- Abnormal postures (dystonia)
- Walking difficulty
- Delays in 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 MICU1 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
This condition is caused by changes in the MICU1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: myopathy with extrapyramidal signs
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 Proximal myopathy with extrapyramidal signs.
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