Living with Cap myopathy
A condition that mainly affects the muscles used for movement, causing weakness that starts at birth or in childhood.
Understanding Cap myopathy
People with cap myopathy have muscle weakness (myopathy) and low muscle tone (hypotonia). The face, neck, and limbs are most affected. Weakness begins at birth or in childhood and can worsen over time. Infants may have feeding and swallowing trouble.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed motor skills like sitting and walking (motor delay)
- Lower tendon reflexes
- High palate
- Long face
- Muscle fibers that look different under a microscope
- Muscle weakness and low muscle tone
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
GARD says changes in genes cause cap myopathy. It is inherited in an autosomal dominant way, so one changed copy of a gene can cause it.
Also known as: cap disease; congenital myopathy with caps
Patient organizations
- Muscular Dystrophy AssociationCap myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Cap myopathy.
Explore research for Cap myopathy
Explore actively recruiting Cap myopathy studies with HealthSpark.
Find actively recruiting studies for Cap myopathy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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